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Sample records for congenitally corrected transposition

  1. Congenitally corrected transposition of great arteries with ischemic symptoms in middle age

    International Nuclear Information System (INIS)

    Zaidi, Syed M.; Al-Sharary, Mabrooke M.; Sajid, Najeb U.; Al-Khuwaitir, Tarig S.

    2007-01-01

    Congenitally corrected transposition of great arteries (CCTGA) is a rare congenital disease first described by Von Rokitansky in 1875. Transposition of the great arteries comprises 2.6-7.8% of all cases of congenital heart disease, and if uncorrected, is commonly fatal in first year of life. Patients with corrected transposition of the great arteries without associated defects may remain undiagnosed until adult life. Symptoms occur rarely before the fourth and fifth decades, when rhythm disturbance, left atrioventricular valve regurgitation and moderately impaired systemic ventricular function cause congestive cardiac failure. We report here a case of drug overdose with ischemic symptoms and CCTGA without associated anomalies in a 40-year-old male. (author)

  2. An unreported type of coronary artery naomaly in congenitally corrected transposition of great arteries

    Energy Technology Data Exchange (ETDEWEB)

    Kwak, Min Kyu; Jeong, Yeon Joo; Lee, Gee Won; Lee, Nam Kyung; Choi, Jung Hyun; Lee, Ji Won [Medical Research Institute, Pusan National University Hospital, Busan (Korea, Republic of)

    2016-07-15

    Coronary artery variations are associated anomalies in 45% of congenitally corrected transposition of the great arteries (ccTGA) cases, and it is important to detect any coronary artery anomalies before cardiac surgery. We report a case of a 51-year-old woman with ccTGA and an unreported type of coronary artery anomaly.

  3. 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

    2018-05-01

    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.

  4. The natural history of congenitally corrected transposition of the great arteries.

    Science.gov (United States)

    Huhta, James

    2011-01-01

    The natural history of congenitally corrected transposition of the great arteries is of clinical/surgical importance once the fetus is born without heart block or signs of heart failure. Without significant tricuspid valve malformation, associated defects such as ventricular septal defect and left ventricular outflow obstruction can be repaired surgically. The mortality and long-term outcome appear to be linked strongly with the severity of tricuspid valve regurgitation. Some patients with an intact ventricular septum and no right ventricular dysfunction will live long lives without detection, and some women will successfully complete pregnancy.

  5. Flail Tricuspid Valve in an Adult Patient with Congenitally Corrected Transposition of the Great Arteries.

    Science.gov (United States)

    Meloni, Luigi; Abbruzzese, Piero A.; Pirisi, Raimondo; Cherchi, Angelo

    1997-01-01

    We describe a case of a 50-year-old woman with congenitally corrected transposition of the great vessels, in whom severe left-sided tricuspid (systemic atrioventricular) valve insufficiency was the only associated anomaly. The tricuspid valve was dysplastic and abnormally oriented toward the interventricular septum, without the downward displacement of Ebstein's anomaly. The mechanism of atrioventricular regurgitation was unusual in that it consisted of the rupture of chordae tendineae of both the anterior and septal leaflets. The left-sided tricuspid valve was replaced with a St. Jude prosthesis and the postoperative course was uneventful.

  6. Situs Inversus with Levocardia and Congenitally Corrected Transposition of Great Vessels in a 35 year old Male: A Case report.

    Science.gov (United States)

    Ghorbnazadeh, Atefeh; Zirak, Nahid; Fazlinezhad, Afsoon; Moenipour, Aliasghar; Manshadi, Hamid Hoseinikhah; Teshnizi, Mohammad Abbasi

    2017-01-01

    Situs inversus with levocardia and congenitally corrected transposition of the great arteries represents a relatively very rare congenital condition and most patients are diagnosed in infancy or early age. This case report describes a 35-year old man with congenitally corrected transposition of the great arteries which presented with a five month history of exertional dyspnea. A diagnosis was confirmed by transesophageal echocardiogram, showing situs inversus, levocardia, atrioventricular and ventriculoarterial discordance. He underwent physiologic repair, and was discharged thirty five days after the operation, in a good general condition. Although management of the corrected transposition of the great arteries patients remains controversial, the recommendation is that physiologic repair may be the procedure of choice for some patients, particularly complicated cases.

  7. Contemporary management and outcomes in congenitally corrected transposition of the great arteries.

    Science.gov (United States)

    Kutty, Shelby; Danford, David A; Diller, Gerhard-Paul; Tutarel, Oktay

    2018-01-11

    Congenitally corrected transposition of the great arteries (ccTGA) can occur in isolation, or in combination with other structural cardiac anomalies, most commonly ventricular septal defect, pulmonary stenosis and tricuspid valve disease. Clinical recognition can be challenging, so echocardiography is often the means by which definitive diagnosis is made. The tricuspid valve and right ventricle are on the systemic arterial side of the ccTGA circulation, and are therefore subject to progressive functional deterioration. The natural history of ccTGA is also greatly influenced by the nature and severity of accompanying lesions, some of which require surgical repair. Some management strategies leave the right ventricle as the systemic arterial pump, but carry the risk of worsening heart failure. More complex 'double switch' repairs establish the left ventricle as the systemic pump, and include an atrial baffle to redirect venous return in combination with either arterial switch or Rastelli operation (if a suitable ventricular septal defect permits). Occasionally, the anatomic peculiarities of ccTGA do not allow straightforward biventricular repair, and Fontan palliation is a reasonable option. Regardless of the approach selected, late cardiovascular complications are relatively common, so ongoing outpatient surveillance should be established in an age-appropriate facility with expertise in congenital heart disease care. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  8. Correction of congenital ptosis of the eyelid by frontal muscle transposition

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    Jevtović Dobrica

    2002-01-01

    Full Text Available Congenital ptosis (CP represents a significant reconstructive problem Numerous studies have not yet provided full and satisfactory results. In this study, we have presented our experience in the surgical treatment of 108 patients by the use of Son Ye Guang's modified method - frontal muscle transposition. A total of 108 patients with CP were surgically treated at the Clinic for Plastic Surgery and Burns of the Military Medical Academy in the period 1991-2000. Unilateral ptosis was operated in 85 patients, and bilateral in 23 patients. CP was more frequently found in males (58.34% than in females (41.66%. The youngest patient was only 5.5 years old, and the oldest was 42, the average age was 21.3 years. All patients were operated on by the same surgeon, and were monitored monthly during the first six months and then twice a year for the next 3 years. Postoperative results were evaluated after 6 months: the action of raising the eyelids was compared to the full amplitude of movement of the eye on the healthy side. The closure of the eyelids and the symmetry of the palpebral fissure in a steady horizontal view was also assessed. The action of the opening as well as closure of the eyelids in full amplitude was obtained in all operated patients. Asymmetry of the palpebral fissure in a steady horizontal view up to 1 mm did not require additional correction. In 9 cases, asymmetry of the palpebral fissure greater than 1 mm was subsequently corrected. The advantages of this surgical method compared to the other, previously described techniques, were emphasized in the conclusion. The main advantage was the elimination of postoperative lagophthalmos, which represented the problem in all previously used methods.

  9. Comparison of systemic right ventricular function in transposition of the great arteries after atrial switch and congenitally corrected transposition of the great arteries.

    Science.gov (United States)

    Morcos, Michael; Kilner, Philip J; Sahn, David J; Litt, Harold I; Valsangiacomo-Buechel, Emanuela R; Sheehan, Florence H

    2017-12-01

    In patients with transposition of the great arteries corrected by interatrial baffle (TGA) and those with congenitally corrected transposition of the great arteries (ccTGA) the right ventricle (RV) is subjected to systemic pressure and fails prematurely. Previous studies have demonstrated RV dysfunction may be more pronounced in patients with TGA. The present study sought to compare patients with TGA and ccTGA using three-dimensional (3D) techniques to comprehensively analyze the shape, volume, global and regional function in the systemic RV. We compared RV size, shape, and regional and global function in 25 patients with TGA, 17 patients with ccTGA, and 9 normal subjects. The RVs were reconstructed from cardiac Magnetic Resonance Images for 3D analyses. Compared to normal, the RV in TGA and ccTGA was dilated, rounded, and reduced in function. Compared to each other, TGA and ccTGA patients had similar RV size and shape. Global RV function was lower in TGA than ccTGA when assessed from ejection fraction (EF) (30 ± 7 vs. 35 ± 7, p = 0.02) and from normalized tricuspid annular systolic plane excursion (TAPSE) (0.10 ± 0.04 vs. 0.18 ± 0.04, p < 0.01). Basilar RV function was poorer in the TGA patients when compared to ccTGA. The systemic RVs in both TGA and ccTGA are dilated, spherical, and poorly functioning. Compared to ccTGA, TGA RVs have reduced TAPSE and worse basilar hypokinesis.

  10. Long term follow up after surgery in congenitally corrected transposition of the great arteries with a right ventricle in the systemic circulation

    NARCIS (Netherlands)

    A.J.J.C. Bogers (Ad); S.J. Head (Stuart); P.L. de Jong (Peter); M. Witsenburg (Maarten); A.P. Kappetein (Arie Pieter)

    2010-01-01

    textabstractAim of the study: To investigate the long-term outcome of surgical treatment for congenitally corrected transposition of the great arteries (CCTGA), in patients with biventricular repair with the right ventricle as systemic ventricle.Methods: A total of 32 patients with CCTGA were

  11. The morphology of the coronary sinus in patients with congenitally corrected transposition: implications for cardiac catheterisation and re-synchronisation therapy.

    Science.gov (United States)

    Aiello, Vera D; Ferreira, Flávia C N; Scanavacca, Mauricio I; Anderson, Robert H; D'Avila, André

    2016-02-01

    Patients with congenitally corrected transposition frequently benefit from re-synchronisation therapy or ablation procedures. This is likely to require catheterisation of the coronary sinus. Its anatomy, however, is not always appreciated, despite being well-described. With this caveat in mind, we have evaluated its location and structure in hearts with congenitally corrected transposition in order to reinforce the guidance needed by the cardiac interventionist. We dissected and inspected the coronary sinus, the oblique vein of the left atrium, and the left-sided-circumflex venous channel in eight heart specimens with corrected transposition and eight controls, measuring the orifice and length of the sinus and the atrioventricular valves. In two-thirds of the malformed hearts, the sinus deviated from its anticipated course in the atrioventricular groove, ascending obliquely on the left atrial inferior wall to meet the left oblique vein. The maximal deviation coincided in all hearts with the point where the left oblique vein joined the left-sided-circumflex vein to form the coronary sinus. We describe a circumflex vein, rather than the great cardiac vein, as the latter venous channel is right-sided in the setting of corrected transposition. The length of the sinus correlated positively with the diameter of the tricuspid valve (p=0.02). Compared with controls, the left oblique vein in the malformed hearts joined the circumflex venous channel significantly closer to the mouth of the sinus. The unexpected course of the coronary sinus in corrected transposition and the naming of the cardiac veins have important implications for venous cannulation and interpretation of images.

  12. Corrected transposition of the great arteries

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Young Hi; Park, Jae Hyung; Han, Man Chung [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1981-12-15

    The corrected transposition of the great arteries is an usual congenital cardiac malformation, which consists of transposition of great arteries and ventricular inversion, and which is caused by abnormal development of conotruncus and ventricular looping. High frequency of associated cardiac malformations makes it difficult to get accurate morphologic diagnosis. A total of 18 cases of corrected transposition of the great arteries is presented, in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between September 1976 and June 1981. The clinical, radiographic, and operative findings with the emphasis on the angiocardiographic findings were analyzed. The results are as follows: 1. Among 18 cases, 13 cases have normal cardiac position, 2 cases have dextrocardia with situs solitus, 2 cases have dextrocardia with situs inversus and 1 case has levocardia with situs inversus. 2. Segmental sets are (S, L, L) in 15 cases, and (I, D,D) in 3 cases and there is no exception to loop rule. 3. Side by side interrelationships of both ventricles and both semilunar valves are noticed in 10 and 12 cases respectively. 4. Subaortic type conus is noted in all 18 cases. 5. Associated cardic malformations are VSD in 14 cases, PS in 11, PDA in 3, PFO in 3, ASD in 2, right aortic arch in 2, tricuspid insufficiency, mitral prolapse, persistent left SVC and persistent right SVC in 1 case respectively. 6. For accurate diagnosis of corrected TGA, selective biventriculography using biplane cineradiography is an essential procedure.

  13. Corrected transposition of the great arteries

    International Nuclear Information System (INIS)

    Choi, Young Hi; Park, Jae Hyung; Han, Man Chung

    1981-01-01

    The corrected transposition of the great arteries is an usual congenital cardiac malformation, which consists of transposition of great arteries and ventricular inversion, and which is caused by abnormal development of conotruncus and ventricular looping. High frequency of associated cardiac malformations makes it difficult to get accurate morphologic diagnosis. A total of 18 cases of corrected transposition of the great arteries is presented, in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between September 1976 and June 1981. The clinical, radiographic, and operative findings with the emphasis on the angiocardiographic findings were analyzed. The results are as follows: 1. Among 18 cases, 13 cases have normal cardiac position, 2 cases have dextrocardia with situs solitus, 2 cases have dextrocardia with situs inversus and 1 case has levocardia with situs inversus. 2. Segmental sets are (S, L, L) in 15 cases, and (I, D,D) in 3 cases and there is no exception to loop rule. 3. Side by side interrelationships of both ventricles and both semilunar valves are noticed in 10 and 12 cases respectively. 4. Subaortic type conus is noted in all 18 cases. 5. Associated cardic malformations are VSD in 14 cases, PS in 11, PDA in 3, PFO in 3, ASD in 2, right aortic arch in 2, tricuspid insufficiency, mitral prolapse, persistent left SVC and persistent right SVC in 1 case respectively. 6. For accurate diagnosis of corrected TGA, selective biventriculography using biplane cineradiography is an essential procedure

  14. Anatomically corrected transposition of great vessels

    International Nuclear Information System (INIS)

    Ivanitskij, A.V.; Sarkisova, T.N.

    1989-01-01

    The paper is concerned with the description of rare congenital heart disease: anatomically corrected malposition of major vessels in a 9-mos 24 day old girl. The diagnosis of this disease was shown on the results of angiocardiography, concomitant congenital heart diseases were descibed. This abnormality is characterized by common atrioventricular and ventriculovascular joints and inversion position of the major vessels, it is always attended by congenital heart diseases. Surgical intervention is aimed at the elimination of concomitant heart dieseases

  15. Outcomes after corrective surgery for congenital dextro-transposition of the great arteries using the arterial switch technique: a protocol for a scoping systematic review

    Science.gov (United States)

    Mbuagbaw, Lawrence; Forlemu-Kamwa, Doris; Chu, Angela; Thabane, Lehana; Dillenberg, Rejane

    2014-01-01

    Introduction Dextro-transposition of the great arteries (d-TGA) is a life-threatening congenital health defect that requires rapid surgery. The most widely used approach is the arterial switch operation (ASO) developed by Jatene in the 1970s. The first set of children who received this intervention are now adults. The objective of this scoping review of the literature was to document the short-term (less than 1 year), medium-term (1–20 years) and long-term (more than 20 years) outcomes in children who underwent the ASO. Our primary income is survival, but we will explore other secondary surgical, cardiovascular, reproductive and quality-of-life outcomes. Methods and analyses Using a systematic scoping review approach, we will conduct a systematic search of the published literature for experimental and observational studies published on children who received the ASO intervention for classic d-TGA. We will search MEDLINE, Excerpta Medica Database (EMBASE), Cumulative Index to Nursing and Allied Health Literature (CINAHL) and Literatura Latino Americana em Ciências da Saúde (LILACS) from 1973 (date of the first successful ASO) to February 2014. Identified articles will be screened in duplicate and full text for selected articles will be retrieved. Data extraction will be carried out in duplicate. Discrepancies will be resolved by consensus or by consulting a third author. Where possible, proportions will be pooled using the inverse variance method. Our findings will be reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and Meta-analysis Of Observational studies in Epidemiology (MOOSE) guidelines. Ethics and dissemination The results of this paper will be disseminated as peer-reviewed publications, at conferences and at clinical rounds. Our findings may answer important questions for surgeons who perform the ASO intervention and for clinicians who take care of patients after surgery and throughout their

  16. Nydiagnosticeret kongenit transposition hos en 76-årig kvinde

    DEFF Research Database (Denmark)

    Sloth, Astrid Drivsholm; Jensen, Jesper Khedri; Hald Steffensen, Flemming

    2009-01-01

    A case of congenitally corrected transposition presenting for the first time with second-degree AV block in a 76-year-old woman is presented. This case demonstrates that congenitally corrected transposition can remain asymptomatic and undiagnosed, especially when no other cardiac defects are pres...

  17. Surgical treatment of the concomitant pathology in corrected transposition of great arteries

    Directory of Open Access Journals (Sweden)

    O.Ye. Repin

    2016-03-01

    Full Text Available The aim – to analyze our experience in the treatment of patients with congenitally corrected transposition of great arteries (CCTGA. Materials and methods. Thirty-nine patients with CCTGA (0.7 %, age from 4 months to 48 years, were observed since 1995 to 2014. Insufficiency of the tricuspid valve was diagnosed in 7 patients, ventricular septal defect (VSD – in 12, III degree AV blockade – in 5 patients (in 4 cases – primary AV blockade and in one case – after VSD repair, insufficiency of mitral valve – in 3 cases (in one of them as a result of bacterial endocarditis after implantation of the endocardial electrode, pulmonary stenosis – in 5. Rezults. Totally 24 surgeries were performed: correction of systemic valve insufficiency – in 6 patients (plastics – in 4 of them and prosthesis in 2 patients, VSD plastics – 9, pacemaker implantation – 4, mitral valve plastics – 2, pulmonary artery banding – 2, bidirectional Glenn – 1. Surgeries were performed without lethal outcomes. Patients were observed from 8 months till 14 years. Adequate correction of all associated pathology was achieved in all patients. Concerning the progressing of tricuspid valve insufficiency, replacement of it was done in 3 cases. Medical treatment of the progressive heart failure was prescribed to 48 years-old patient. Conclusion. The submitted material confirms the data regarding high risk of the development of AV blockade, tricuspid valve insufficiency, as well as right ventricular failure during 4–5th decade of life. Early revealing and adequate correction of accompanying defects and developing complications allows to achieve satisfactory immediate and long-term results.

  18. Congenital heart defect corrective surgeries

    Science.gov (United States)

    ... make it bigger with a patch made of Gore-tex, a man-made (synthetic) material. Another way ... 434. Bhatt AB, Foster E, Kuehl K, et al; American Heart Association Council on Clinical Cardiology. Congenital ...

  19. Pulmonary Arterial Hypertension and Neonatal Arterial Switch Surgery for Correction of Transposition of the Great Arteries.

    Science.gov (United States)

    Domínguez Manzano, Paula; Mendoza Soto, Alberto; Román Barba, Violeta; Moreno Galdó, Antonio; Galindo Izquierdo, Alberto

    2016-09-01

    There are few reports of the appearance of pulmonary arterial hypertension following arterial switch surgery in the neonatal period to correct transposition of the great arteries. We assessed the frequency and clinical pattern of this complication in our series of patients. Our database was reviewed to select patients with transposition of the great arteries corrected by neonatal arterial switch at our hospital and who developed pulmonary hypertension over time. We identified 2 (1.3%) patients with transposition of the great arteries successfully repaired in the first week of life who later experienced pulmonary arterial hypertension. The first patient was a 7-year-old girl diagnosed with severe pulmonary hypertension at age 8 months who did not respond to medical treatment and required lung transplantation. The anatomic pathology findings were consistent with severe pulmonary arterial hypertension. The second patient was a 24-month-old boy diagnosed with severe pulmonary hypertension at age 13 months who did not respond to medical therapy. Pulmonary hypertension is a rare but very severe complication that should be investigated in all patients with transposition of the great arteries who have undergone neonatal arterial switch, in order to start early aggressive therapy for affected patients, given the poor therapeutic response and poor prognosis involved. Copyright © 2016 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  20. Correction of incomplete penoscrotal transposition by a modified Glenn-Anderson technique

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    Saleh Amin

    2010-01-01

    Full Text Available Purpose: Penoscrotal transposition may be partial or complete, resulting in variable degrees of positional exchanges between the penis and the scrotum. Repairs of penoscrotal transposition rely on the creation of rotational flaps to mobilise the scrotum downwards or transpose the penis to a neo hole created in the skin of the mons-pubis. All known techniques result in complete circular incision around the root of the penis, resulting in severe and massive oedema of the penile skin, which delays correction of the associated hypospadias and increases the incidence of complications, as the skin vascularity and lymphatics are impaired by the designed incision. A new design to prevent this post-operative oedema, allowing early correction of the associated hypospadias and lowering the incidence of possible complications, had been used, whose results were compared with other methods of correction. Materials and Methods: Ten patients with incomplete penoscrotal transposition had been corrected by designing rotational flaps that push the scrotum back while the penile skin remains attached by small strip to the skin of the mons-pubis. Results : All patients showed an excellent cosmetic outcome. There was minimal post-operative oedema and no vascular compromise to the penile or scrotal skin. Correction of associated hypospadias can be performed in the same sitting or in another sitting, without or with minimal complications. Conclusion: This modification, which maintains the penile skin connected to the skin of the lower abdomen by a small strip of skin during correction of penoscrotal transposition, prevents post-operative oedema and improves healing with excellent cosmetic appearance, allows one-stage repair with minimal complications and reduce post-operative complications such as urinary fistula and flap necrosis.

  1. The challenge of staphylococcal pacemaker endocarditis in a patient with transposition of the great arteries endocarditis in congenital heart disease

    International Nuclear Information System (INIS)

    Ch'ng, Julie; Chan, William; Lee, Paul; Joshi, Subodh; Grigg, Leanne E.; Ajani, Andrew E.

    2003-01-01

    Staphylococcus aureus is a leading cause of septicaemia and infective endocarditis. The overall incidence of staphylococcal bacteraemia is increasing, contributing to 16% of all hospital-acquired bacteraemias. The use of cardiac pacemakers has revolutionized the management of rhythm disturbances, yet this has also resulted in a group of patients at risk of pacemaker lead endocarditis and seeding in the range of 1% to 7%. We describe a 26-year-old man with transposition of the great arteries who had a pacemaker implanted and presented with S. aureus septicaemia 2 years postpacemaker implantation and went on to develop pacemaker lead endocarditis. This report illustrates the risk of endocarditis in the population with congenital heart disease and an intracardiac device

  2. Bilateral Superior Labial Mucosal Transposition Flaps to Correct Stenosis of the Nares Following Bilateral Rostral Maxillectomy Combined with Nasal Planum Resection in a Dog.

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    Séguin, Bernard; Steinke, Julia R

    2016-04-01

    To describe a technique using labial mucosal flaps to correct stenosis of the nares subsequent to bilateral rostral maxillectomy and nasal planum resection. Case report Client-owned dog. A 10-year-old, neutered male Golden Retriever developed repeated stenosis of the nares, at first after bilateral rostral maxillectomy and nasal planum resection, and again after revision surgery. Bilateral, superior labial mucosal transposition flaps were created and interpolated between the nasal mucosa and skin after debridement of scar tissue. The stenosis did not recur after mucosal flap transposition and the dog returned to normal quality of life (last follow-up 25 months postoperative). Single-stage, superior labial mucosal transposition flaps can be used to correct nares stenosis subsequent to previous surgery. © Copyright 2016 by The American College of Veterinary Surgeons.

  3. Long-term results after atrial correction of complete transposition of the great arteries.

    Science.gov (United States)

    Merlo, M; de Tommasi, S M; Brunelli, F; Abbruzzese, P A; Crupi, G; Ghidoni, I; Casari, A; Pitì, A; Mamprin, F; Parenzan, L

    1991-02-01

    This study presents the late results for the first 104 consecutive patients surviving and atrial repair for transposition of the great arteries (TGA) between January 1971 and December 1978 (group 1). Mean follow-up was 12 years (range, 0.1 to 17.7 years). The actuarial survival rate at 18 years was 84.2% (70% confidence limits, 79% to 88%) for simple TGA and 93.7% (70% confidence limits, 84% to 97%) for complex TGA. Nine of the 11 deaths were sudden. Two (2.6%) of the 78 late survivors operated on for simple TGA are in New York Heart Association functional class III or IV versus 4 (26.7%) of the 15 survivors with complex TGA; the other patients are doing very well. To better assess long-term results, we report the findings for randomly obtained electrocardiograms, Holter monitor recordings, radionuclide angiographic studies, and cardiac catheterizations performed in 1987 in a larger group of 159 long-term survivors of atrial repair operated on at Ospedale Riuniti di Bergamo from January 1971 to December 1984 (group 2), which includes all of group 1. The findings confirm that the arterial switch repair is the procedure of choice for complex TGA and that there is a major incidence (approximately 10%) of systemic right ventricular dysfunction and rhythm disturbances after the atrial repair. On the other hand, our late survival rate at 18 years of 84% for simple TGA with 97.5% of the patients in functional class I is a result that should be kept in mind, especially in institutions where the arterial switch is a relatively new approach and presumably is a higher risk to cause early death.

  4. Bounded Rationality in Transposition Processes

    DEFF Research Database (Denmark)

    Vollaard, Hans; Martinsen, Dorte Sindbjerg

    2014-01-01

    Studies explaining the timeliness and correctness of the transposition of EU directives into national legislation have provided rather inconclusive findings. They do not offer a clear-cut prediction concerning the transposition of the patients’ rights directive, which is one of the first that con......Studies explaining the timeliness and correctness of the transposition of EU directives into national legislation have provided rather inconclusive findings. They do not offer a clear-cut prediction concerning the transposition of the patients’ rights directive, which is one of the first...... that concerns the organisation and financing of national healthcare systems. This article applies the perspective of bounded rationality to explain (irregularities in) the timely and correct transposition of EU directives. The cognitive and organisational constraints long posited by the bounded rationality...

  5. Assessment of sistemic ventricle function in corrected transposition of great arteries with Gated SPECT: comparison with radionuclide ventriculography

    International Nuclear Information System (INIS)

    Alexanderson, E.; Espinola, N.; Duenas, D.; Fermon, S.; Acevedo, C.; Martinez, C.

    2002-01-01

    Corrected trasposition of great arteries is a uncommon congenital heart disease where the right ventricle works as the sistemic one. QGS Gated SPECT program was designed to recognize the contours of left ventricle being a good method to evaluate left ventricle ejection fraction. The purpose of this study was to evaluate the right ventricle ejection fraction (RVEF) by gated SPECT using Tc-99mSestaMIBI in comparison with radionuclide ventriculography (RVG) in patients with corrected trasposition of great arteries. Methods: We performed gated SPECT and radionuclide ventriculography within 15 days of each other in 7 adults consecutive patients with the diagnosis of corrected trasposition of great arteries (5 men, 2 women; mean age 47 y). Gated tomographic data, including ventricular volumes and ejection fraction, were processed using QGS automatic algorithm, whereas equilibrium radionuclide ventriculography used standard techniques. Results: We found a good correlation between right ventricle ejection fraction obtained with Gated SPECT compared with equilibrium radionuclide ventriculography. The mean of the RVEF with Gated SPECT was 41.2% compared with 44.2% of RVEF with equilibrium radionuclide ventriculography. Both methods recognized abnormal RVEF in 5 patients ( 50%) with Gated SPECT and abnormal with RVG meanwhile another patient had normal RVEF with RVG and abnormal with Gated SPECT. Conclusion: Quantitative gated tomography, using Tc 99mSestaMIBI, has a good correlation with radionuclide ventriculography for the assessment of right ventricle ejection fraction in patients with corrected trasposition of great arteries. These results support the clinical use of this technique among these patients

  6. CORRECTIVE SURGERY IN CONGENITAL TALIPES EQUINOVARUS DEFORMITY: A CAMP APPROACH

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    Antony R.

    2015-09-01

    Full Text Available The study was intended to assess the results of soft tissue release and bony corrective surgery in patients of moderate to severe deformed rigid club foot (CTEV and neglected clubfoot (CTEV at free disabled surgical camps at Chhattisgarh state . MATERIAL AND METHODS : In our study 50 patients were included with 70% male and 30% female with 4 - 16 years of age grou p and 70% unilateral and 30% bilateral foot involvement. Patients were admitted and operated in different free disabled surgical camps at Chhattisgarh state over the period of 36 months (1 may 2004 to 30 th April 2007. Improvement in functional ability and locomotion of all operated patients were assessed by physical and clinical examination. RESULTS : All patients who were operated in our study showed significant improvement in functional ability and locomotion after surgery. All patients were maintaining f unctional ability at follow up duration of 12 months (1 year. 75% patients were walking normally, 10% cases were walking with internal rotation of leg and 5% cases were walking with midtarsal varus foot with AFO with medial bar support. CONCLUSION : Our st udy showed and established that excellent results can be obtained in congenital talipes equinovarus (CTEV patients by soft tissue release with bony corrective surgery. The team work of devoted surgeons, paramedical and rehabilitation staff in whole durati on of camps to achieve the goal. With an aim to help more number of CTEV cases by surgery, our team has started doing surgeries in small institutions, and organize charity camps to help poor patients and mankind even in small clinics

  7. Didactic Transposition

    DEFF Research Database (Denmark)

    Achiam, Marianne

    The term didactic transposition refers to the deconstruction and reconstruction of science knowledge, values or practices in order to make them teachable. In this paper, I present the theoretical framework that has grown around this notion. I use examples from different levels of science educatio...... framework to the more normative construct of today (the Anthropological Theory of Didactics or ATD), where it converges with other comparable frameworks, e.g. the Model of Educational Reconstruction.......The term didactic transposition refers to the deconstruction and reconstruction of science knowledge, values or practices in order to make them teachable. In this paper, I present the theoretical framework that has grown around this notion. I use examples from different levels of science education...... and different subjects to illustrate how science is transformed in any teaching undertaking, and how that transformation influences the way science is experienced and appropriated by learners. The chosen examples also illustrate the development of the notion of didactic transposition from a descriptive...

  8. Denonvilliers' advancement flap in congenital alar rim defects correction

    Directory of Open Access Journals (Sweden)

    Novaković Marijan

    2009-01-01

    Full Text Available Background. Alar rim defects are mostly acquired, resulting from burns, traumas or tumor excision. Sometimes they can accompany craniofacial clefts. However, isolated congenital alar defects are extremely rare. Case report. We presented two cases of congenital isolated alar cleft. The defect was closed by the use of an advancement flap, the technique described by Denonvilliers. We achieved both symmetry and appropriate thickness of the nostrils. Skin color and texture of the alar rim were excellent, with scars not excessively visible. Conclusion. Denonvilliers' z-plasty technique by using advancement flap provides both functionally and aesthetically satisfying outcome in patients with congenital alar rim defects.

  9. Transposição corrigida das grandes artérias: apresentação clínica tardia, na quinta década de vida Corrected transposition of the great arteries: late clinical presentation, in the fifth decade of life

    Directory of Open Access Journals (Sweden)

    Roger Pereira de Oliveira

    2008-10-01

    Full Text Available A transposição corrigida das grandes artérias, cardiopatia congênita rara, está relacionada a maior incidência de complicações cardiológicas. Reportamos um caso no qual a apresentação clínica da doença ocorreu apenas na quinta década de vida, com insuficiência tricúspide, ocasião em que a paciente foi submetida a troca valvar.The corrected transposition of the great arteries, rare congenital cardiopathy, is related to the largest incidence of cardiological complications. We report a case in which the clinical presentation of the disease occurred in the fifth decade of life, with tricuspid insufficiency, occasion that the patient was submitted to valvar replacement.

  10. Transposition of the great arteries

    Directory of Open Access Journals (Sweden)

    Castela Eduardo

    2008-10-01

    Full Text Available Abstract Transposition of the great arteries (TGA, also referred to as complete transposition, is a congenital cardiac malformation characterised by atrioventricular concordance and ventriculoarterial (VA discordance. The incidence is estimated at 1 in 3,500–5,000 live births, with a male-to-female ratio 1.5 to 3.2:1. In 50% of cases, the VA discordance is an isolated finding. In 10% of cases, TGA is associated with noncardiac malformations. The association with other cardiac malformations such as ventricular septal defect (VSD and left ventricular outflow tract obstruction is frequent and dictates timing and clinical presentation, which consists of cyanosis with or without congestive heart failure. The onset and severity depend on anatomical and functional variants that influence the degree of mixing between the two circulations. If no obstructive lesions are present and there is a large VSD, cyanosis may go undetected and only be perceived during episodes of crying or agitation. In these cases, signs of congestive heart failure prevail. The exact aetiology remains unknown. Some associated risk factors (gestational diabetes mellitus, maternal exposure to rodenticides and herbicides, maternal use of antiepileptic drugs have been postulated. Mutations in growth differentiation factor-1 gene, the thyroid hormone receptor-associated protein-2 gene and the gene encoding the cryptic protein have been shown implicated in discordant VA connections, but they explain only a small minority of TGA cases. The diagnosis is confirmed by echocardiography, which also provides the morphological details required for future surgical management. Prenatal diagnosis by foetal echocardiography is possible and desirable, as it may improve the early neonatal management and reduce morbidity and mortality. Differential diagnosis includes other causes of central neonatal cyanosis. Palliative treatment with prostaglandin E1 and balloon atrial septostomy are usually

  11. Lung scintiscanning in corrective surgery of congenital heart disease, 2

    International Nuclear Information System (INIS)

    Endo, Kaoru

    1981-01-01

    Lung scintiscanning was performed to investigate the distribution of pulmonary blood flow before and after surgery in 30 patients with tetralogy of Fallot. Uniformity of lung scintigram and the derangement of the distribution pattern were observed preoperatively and postoperatively. The results were as follows: 1) Preoperatively, uniformity of lung scintigram was 27.7 - 100% (average 63.4%). It is more necessary to construct the outflow tract in most cases, when the PA/Ao diameter ratio was lower than 0.5 and uniformity of lung scintigram was under 50%. Besides, preoperative uniformity of lung scintigram correlated with the degree of polycythemia. In 3 cases who died after corrective surgery, the value of uniformity of lung scintigram was as low as 33.3 - 61.1%. 2) Preoperative pulmonary blood flow disturbances were found in 50% of 30 cases. In all of the cases without pulmonary blood flow disturbances, total correction was successfully performed. On the other hand, in cases with pulmonary blood flow disturbances, the result of total correction was not satisfactory. 3) In cases with the slight and moderately deranged distribution preoperatively, postoperative follow up study by scintiscanning at 1 to 2 months after surgery showed considerately more improvement of pulmonary blood flow. (author)

  12. Baseline correction of phase-contrast images in congenital cardiovascular magnetic resonance

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    Lai Wyman W

    2010-03-01

    Full Text Available Abstract Background One potential source of error in phase contrast (PC congenital CMR flow measurements is caused by phase offsets due to local non-compensated eddy currents. Phantom correction of these phase offset errors has been shown to result in more accurate measurements of blood flow in adults with structurally normal hearts. We report the effect of phantom correction on PC flow measurements at a clinical congenital CMR program. Results Flow was measured in the ascending aorta, main pulmonary artery, and right and left pulmonary arteries as clinically indicated, and additional values such as Qp/Qs were derived from these measurements. Phantom correction in our study population of 149 patients resulted in clinically significant changes in 13% to 48% of these phase-contrast measurements in patients with known or suspected heart disease. Overall, 640 measurements or calculated values were analyzed, and clinically significant changes were found in 31%. Larger vessels were associated with greater phase offset errors, with 22% of the changes in PC flow measurements attributed to the size of the vessel measured. In patients with structurally normal hearts, the pulmonary-to-systemic flow ratio after phantom correction was closer to 1.0 than before phantom correction. There was no significant difference in the effect of phantom correction for patients with tetralogy of Fallot as compared to the group as a whole. Conclusions Phantom correction often resulted in clinically significant changes in PC blood flow measurements in patients with known or suspected congenital heart disease. In laboratories performing clinical CMR with suspected phase offset errors of significance, the routine use of phantom correction for PC flow measurements should be considered.

  13. Lung scintiscanning in corrective surgery of congenital heart diseases, 1

    International Nuclear Information System (INIS)

    Endo, Kaoru

    1981-01-01

    External scintillation scanning of intravenously administered 131 I-MAA was employed to evaluate the distribution of pulmonary blood flow in 63 patients (42 VSD, 9 PDA, 5 VSD with PDA, 4 ECD, 2 VSD with MI and 1 A-P window) with pulmonary hypertension. 1) Preoperative uniformity of lung scintigram was 33.3 - 100% (average 73.0%) in VSD, 27.7 - 100% (68.8%) in PDA, 66.6 - 72.2% (68.2%) in VSD with PDA, 63.8 - 86.1% (78.4%) in ECD, 58.3 - 100% in VSD with MI and 88.8% in A-P window. 2) Preoperative uniformity of lung scintigram correlated with the pulmonary arterial systolic pressure and the ratio of pulmonary to systemic pressure in patients over 1 year of age, but not correlated with pulmonary hemodynamics in patients under 1 year of age. 3) Even though the value of uniformity of lung scintigram was low, pulmonary arterial pressure decreased evidently after corrective surgery in the cases under 1 year of age. However, its decrease was mild in the cases over 1 year of age. Operative death was found in 6 cases. Of these, the value of uniformity of lung scintigram was as low as 55.5 - 72.2% in VSD and PDA, on the other hand, it was as high as 80.5 - 83.3% in ECD. 4) Preoperative pulmonary blood flow disturbances were found in about 51% of the cases of VSD, PDA and VSD with PDA. In cases with the deranged distribution pattern in the left lung or both lungs, postoperative care in the acute stage must be done carefully. 5) In cases with the deranged distribution preoperatively, the postoperative changes of the lung scintigrams were studied at 1 to 2 months after surgery. Postoperative distribution pattern of the pulmonary flow has not improved sufficiently at this time. (author)

  14. Psychosocial functioning of young adults after surgical correction for congenital heart disease in childhood: a follow-up study

    NARCIS (Netherlands)

    Utens, E. M.; Verhulst, F. C.; Erdman, R. A.; Meijboom, F. J.; Duivenvoorden, H. J.; Bos, E.; Roelandt, J. R.; Hess, J.

    1994-01-01

    To investigate the long-term psychosocial outcome of congenital heart disease, the emotional, intellectual and social functioning of 288 (young) adult patients was assessed with standardized assessment procedures 9-23 years (mean follow-up interval: 16 years) after surgical correction for congenital

  15. What determines nutritional recovery in malnourished children after correction of congenital heart defects?

    Science.gov (United States)

    Vaidyanathan, Balu; Radhakrishnan, Reshma; Sarala, Deepa Aravindakshan; Sundaram, Karimassery Ramaiyar; Kumar, Raman Krishna

    2009-08-01

    Malnutrition is common in children with congenital heart disease (CHD), especially in developing countries. To examine the impact of corrective intervention on the nutritional status of children with CHD and identify factors associated with suboptimal recovery. Consecutive patients with CHD in a tertiary center in South India were evaluated for nutritional status before and 2 years after corrective intervention. Anthropometry was performed at presentation and every 6 months for 2 years, and z scores were compared. Malnutrition was defined as a weight-for-age, height-for-age, and weight/height z score nutritional status at presentation, and height of parents and not with type of cardiac lesion, dietary intake, or socioeconomic factors. This study from South India demonstrates severe malnutrition in over half of the patients with CHD and is not always reversed by corrective surgery or intervention. Persistent malnutrition after corrective intervention is predicted by nutritional status at presentation, birth weight, and parental anthropometry.

  16. Advances in visual correction and postoperative visual treatment of congenital cataract

    Directory of Open Access Journals (Sweden)

    Lin Mei

    2014-04-01

    Full Text Available Congenital cataract is one of the important diseases that cause irreversible visual impairment on children. Compared with adult cataract, the surgery of congenital cataract is more complicated and the complications are more severer, especially the postoperative amblyopia often leads to bad prognosis. Therefore, the postoperative treatment is necessary to obtain the better visual outcome. The traditional visual correction methods after surgery include the combined use of spectacles, contact lens, and intraocular lens(IOL, but some problems such as IOL power calculation and IOL implantation time are still controversial. Besides, occlusion therapy and visual training are also essential for preventing amblyopia after cataract surgery. Occlusion in an appropriate dose and course must be mastered, accompanied by visual training. Both of the operative eyes and normal eyes will be able to achieve much better visual acuity and color sensitivity, so that the binocular vision can recover and develop as normal function.

  17. Frontalis muscle flap suspension for the correction of congenital blepharoptosis in early age children.

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    Dianju Hou

    Full Text Available BACKGROUND: We aimed to report our successful use of frontalis muscle flap suspension for the correction of congenital blepharoptosis in early age children. METHODS: This retrospective study included 61 early age children (41 boys, 20 girls with an average age of 6 years (range, 3-10 years with congenital blepharoptosis who received surgery during the period from March 2007 to January 2011. There were 39 cases of unilateral blepharoptosis and 22 cases of bilateral blepharoptosis, thus a total of 83 eyes were affected. If patient had bilateral blepharoptosis, both eyes were operated on in the same surgery. Patients were followed for 3 months to 5 years. The procedure was performed without complications in all cases. RESULTS: The postoperative healing grade was good in 81 eyes (97.6%; the correction of blepharoptosis was satisfactory, the double eyelid folds were natural and aesthetic, the eyelid position and the curvature were ideal, and the eyes were bilaterally symmetrical. The postoperative healing grade was fair in 2 eyes (2.4%; blepharoptosis was improved compared with that before surgery. At discharge, lagophthalmos was noted in 10 eyes of which 4 cases resolved by the last follow-up. The remaining 6 cases were mild. Eleven eyes received reoperation for residual ptosis after the first surgery. The curvature of the palpebral margin was not natural in 4 eyes. These unnatural curvature possibly was caused by an excessively low lateral fixation point or postoperative avulsion. CONCLUSION: Frontalis muscle flap suspension under general anesthesia for the correction of congenital blepharoptosis in early age children can achieve good surgical results.

  18. Cyanotic congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Yeon, Kyung Mo; Yoo, Shi Joon; Han, Man Chung; Hong, Chang Yee; Lee, Yung Kyoon [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1979-12-15

    Authors analyzed 265 cases of cyanotic congenital heart disease in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between April 1973 and August 1979. The results are as follows; 1. Among 265 cases, 178 patients were male and 87 patients were female. 240 patients were below the age of 20 and none was over 35 year. 2. The incidence of individual lesions are as follows: tetralogy of Fallot-176; double outlet right ventricle-20; pentalogy-12; trilogy-11; corrected transposition of great arteries-10; complete transposition of great arteries-8; pulmonary atresia-7; single ventricle-6; Ebstein's anomaly-5; total anomalous pulmonary venous return-4; tricuspid atresia-3; double outlet left ventricle-1; truncus arteriosus-1; hypoplastic left ventricle-1. 3. Fallot's teralogy, pentalogy and trilogy were characteristic in their simple chest and angiocardiographic manifestations, but in a few cases of tetralogy and pentalogy it was difficult to differentiate them from double outlet right ventricle or pulmonary atresia. 4. In double outlet right ventricle and transposition of great arteries which are the pathologic spectrum resulting from abnormal conal growth, differential points were ventricular and great arterial loop patterns and their connections but it was very difficult to differentiate them from each other by single injection into one ventricle alone. 5. Ebstein's anomaly and total anomalous pulmonary venous return were so characteristic in angiocardiography was done ventriculography alone. 6. In 7 cases with double outlet right ventricle and transposition of great arteries, selective biventriculography was done and more accurate diagnosis could be made, which was quite difficult with one ventriculography alone. In 31 cases, cineangiocardiography was done and it gave more accurate information about the type and degree of pulmonary stenosis and overriding of aorta, the origin

  19. Cyanotic congenital heart disease

    International Nuclear Information System (INIS)

    Yeon, Kyung Mo; Yoo, Shi Joon; Han, Man Chung; Hong, Chang Yee; Lee, Yung Kyoon

    1979-01-01

    Authors analyzed 265 cases of cyanotic congenital heart disease in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between April 1973 and August 1979. The results are as follows; 1. Among 265 cases, 178 patients were male and 87 patients were female. 240 patients were below the age of 20 and none was over 35 year. 2. The incidence of individual lesions are as follows: tetralogy of Fallot-176; double outlet right ventricle-20; pentalogy-12; trilogy-11; corrected transposition of great arteries-10; complete transposition of great arteries-8; pulmonary atresia-7; single ventricle-6; Ebstein's anomaly-5; total anomalous pulmonary venous return-4; tricuspid atresia-3; double outlet left ventricle-1; truncus arteriosus-1; hypoplastic left ventricle-1. 3. Fallot's teralogy, pentalogy and trilogy were characteristic in their simple chest and angiocardiographic manifestations, but in a few cases of tetralogy and pentalogy it was difficult to differentiate them from double outlet right ventricle or pulmonary atresia. 4. In double outlet right ventricle and transposition of great arteries which are the pathologic spectrum resulting from abnormal conal growth, differential points were ventricular and great arterial loop patterns and their connections but it was very difficult to differentiate them from each other by single injection into one ventricle alone. 5. Ebstein's anomaly and total anomalous pulmonary venous return were so characteristic in angiocardiography was done ventriculography alone. 6. In 7 cases with double outlet right ventricle and transposition of great arteries, selective biventriculography was done and more accurate diagnosis could be made, which was quite difficult with one ventriculography alone. In 31 cases, cineangiocardiography was done and it gave more accurate information about the type and degree of pulmonary stenosis and overriding of aorta, the origin of great

  20. TRANSPOSITION OF GREAT ARTERIES: NEW INSIGHTS INTO THE PATHOGENESIS

    Directory of Open Access Journals (Sweden)

    Marta eUnolt

    2013-06-01

    Full Text Available Transposition of great arteries (TGA is one of the most common and severe congenital heart diseases (CHD. It is also one of the most mysterious CHD because it has no precedent in phylogenetic and ontogenetic development, it does not represent an alternative physiological model of blood circulation and its etiology and morphogenesis are still largely unknown. However, recent epidemiologic, experimental and genetic data suggest new insights into the pathogenesis. TGA is very rarely associated with the most frequent genetic syndromes, such as Turner, Noonan, Williams or Marfan syndromes, and in Down syndrome, it is virtually absent. The only genetic syndrome with a strong relation with TGA is Heterotaxy. Moreover, TGA is rather frequent in cases of isolated dextrocardia with situs solitus, showing link with defect of visceral situs. In lateralization defects TGA is frequently associated with asplenia syndrome. Nowadays, the most reliable method to induce TGA consists in treating pregnant mice with retinoic acid or with retinoic acid inhibitors. Following such treatment not only cases of TGA with d-ventricular loop have been registered, but also some cases of congenitally corrected transposition of great arteries (CCTGA. In another experiment, the embryos of mice treated with retinoic acid in day 6.5 presented Heterotaxy, suggesting a relationship among these morphologically different CHD. In some families, beside TGA cases, there were first-degree relatives with CCTGA. This data suggest that monogenic inheritance with a variable phenotypic expression could explain the familial aggregation of TGA and CCTGA. In some of these families we previously found multiple mutations in laterality genes including Nodal and ZIC3, confirming a pathogenetic relation between TGA and Heterotaxy. These overall data suggest to include TGA in the pathogenetic group of laterality defects instead of conotruncal abnormalities due to ectomesenchymal tissue migration.

  1. Inferior Oblique Overaction: Anterior Transposition Versus Myectomy.

    Science.gov (United States)

    Rajavi, Zhale; Feizi, Mohadeseh; Behradfar, Narges; Yaseri, Mehdi; Sayanjali, Shima; Motevaseli, Tahmine; Sabbaghi, Hamideh; Faghihi, Mohammad

    2017-07-01

    To compare the efficacy of inferior oblique myectomy and anterior transposition for correcting inferior oblique overaction (IOOA). This retrospective study was conducted on 56 patients with IOOA who had either myectomy or anterior transposition of the inferior oblique muscle from 2010 to 2015. The authors compared preoperative and postoperative inferior oblique muscle function grading (-4 to +4) as the main outcome measure and vertical and horizontal deviation, dissociated vertical deviation (DVD), and A- and V-pattern between the two surgical groups as secondary outcomes. A total of 99 eyes of 56 patients with a mean age of 5.9 ± 6.5 years were included (47 eyes in the myectomy group and 52 eyes in the anterior transposition group). There were no differences in preoperative best corrected visual acuity, amblyopia, spherical equivalent, and primary versus secondary IOOA between the two groups. Both surgical procedures were effective in reducing IOOA and satisfactory results were similar between the two groups: 61.7% and 67.3% in the myectomy and anterior transposition groups, respectively (P = .56). After adjustment for the preoperative DVD, there was no statistically significant difference between the two groups postoperatively. The preoperative hypertropia was 6 to 14 and 6 to 18 prism diopters (PD) in the myectomy and anterior transposition groups, respectively. After surgery, no patient had a vertical deviation greater than 5 PD. Both the inferior oblique myectomy and anterior transposition procedures are effective in reducing IOOA with similar satisfactory results. DVD and hypertropia were also corrected similarly by these two surgical procedures. [J Pediatr Ophthalmol Strabismus. 2017;54(4):232-237.]. Copyright 2017, SLACK Incorporated.

  2. Survival and health in liveborn infants with transposition of great arteries

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria A; Nelen, Vera

    2007-01-01

    OBJECTIVE: To describe treatment, survival, and morbidity for liveborn infants with isolated transposition of great arteries (TGA). DESIGN: Population-based data from 7 European registries of congenital malformations (EUROCAT). RESULTS: Ninety-seven infants were diagnosed with isolated TGA...

  3. Surgical correction of congenital esotropia alternating and subsequent abnormal correspondence retinal: a case report

    Directory of Open Access Journals (Sweden)

    Luigi Mazzeo

    2015-10-01

    Full Text Available Introduction: Accomodative esotropia is secondary to inappropriate convergence during accomodative effort in an uncorrected hyperope and is often familial. Case presentation: we report the case of 20 year old Caucasian patient with congenital esotropia alternating, of 30 prism diopters distance (5 m and 40 prism diopters of esotropia at near, in both eyes. Measures: Was performed strabismus, in peribulbar anesthesia, the right medial rectus was cashed 3.0mm, the left medial rectus was collected 3.5 mm. Results: Immediately after surgery, the patient complained of intermittent diplopia, resolved with orthotic exercise which stimulated binocular vision, Conclusion: This case report suggests that the surgical correction strabismus, should be considered with due caution in the treatment of congenital esotropia alternating and branches, and in some clinical scenarios selected to avoid the complication of postoperative diplopia, that in the case report resolved so benign. After three months surgical treatmen, remains a small angle strabismus aesthetically acceptable, has not given double vision and remains abnormal retinal correspondence with orthotic exercise.

  4. Didactic Transposition in Mathematics Textbooks.

    Science.gov (United States)

    Kang, Wan; Kilpatrick, Jeremy

    1992-01-01

    Didactic transposition theory asserts that bodies of knowledge are designed not to be taught but to be used. Discusses didactic transposition, the transposition of knowledge regarded as a tool to be used to knowledge as something to be learned in mathematics textbooks. (14 references) (MDH)

  5. Visual impairment secondary to congenital glaucoma in children: visual responses, optical correction and use of low vision AIDS

    Directory of Open Access Journals (Sweden)

    Maria Aparecida Onuki Haddad

    2009-01-01

    Full Text Available INTRODUCTION: Congenital glaucoma is frequently associated with visual impairment due to optic nerve damage, corneal opacities, cataracts and amblyopia. Poor vision in childhood is related to global developmental problems, and referral to vision habilitation/rehabilitation services should be without delay to promote efficient management of the impaired vision. OBJECTIVE: To analyze data concerning visual response, the use of optical correction and prescribed low vision aids in a population of children with congenital glaucoma. METHOD: The authors analyzed data from 100 children with congenital glaucoma to assess best corrected visual acuity, prescribed optical correction and low vision aids. RESULTS: Fifty-five percent of the sample were male, 43% female. The mean age was 6.3 years. Two percent presented normal visual acuity levels, 29% mild visual impairment, 28% moderate visual impairment, 15% severe visual impairment, 11% profound visual impairment, and 15% near blindness. Sixty-eight percent received optical correction for refractive errors. Optical low vision aids were adopted for distance vision in 34% of the patients and for near vision in 6%. A manual monocular telescopic system with 2.8 × magnification was the most frequently prescribed low vision aid for distance, and for near vision a +38 diopter illuminated stand magnifier was most frequently prescribed. DISCUSSION AND CONCLUSION: Careful low vision assessment and the appropriate prescription of optical corrections and low vision aids are mandatory in children with congenital glaucoma, since this will assist their global development, improving efficiency in daily life activities and promoting social and educational inclusion.

  6. Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.

    Science.gov (United States)

    Eklund, Erik A; Merbouh, Nabyl; Ichikawa, Mie; Nishikawa, Atsushi; Clima, Jessica M; Dorman, James A; Norberg, Thomas; Freeze, Hudson H

    2005-11-01

    Patients with Type I congenital disorders of glycosylation (CDG-I) make incomplete lipid-linked oligosaccharides (LLO). These glycans are poorly transferred to proteins resulting in unoccupied glycosylation sequons. Mutations in phosphomannomutase (PMM2) cause CDG-Ia by reducing the activity of PMM, which converts mannose (Man)-6-P to Man-1-P before formation of GDP-Man. These patients have reduced Man-1-P and GDP-Man. To replenish intracellular Man-1-P pools in CDG-Ia cells, we synthesized two hydrophobic, membrane permeable acylated versions of Man-1-P and determined their ability to normalize LLO size and N-glycosylation in CDG-Ia fibroblasts. Both compounds, compound I (diacetoxymethyl 2,3,4,6-tetra-O-acetyl-alpha-D-mannopyranosyl phosphate) (C-I) and compound II (diacetoxymethyl 2,3,4,6-tetra-O-ethyloxycarbonyl-alpha-D-mannopyranosyl phosphate) (C-II), contain two acetoxymethyl (CH2OAc) groups O-linked to phosphorous. C-I contains acetyl esters and C-II contains ethylcarbonate (CO2Et) esters on the Man residue. Both C-I and C-II normalized truncated LLO, but C-II was about 2-fold more efficient than C-I. C-II replenished the GDP-Man pool in CDG-Ia cells and was more efficiently incorporated into glycoproteins than exogenous Man at low concentrations (25-75 mM). In a glycosylation assay of DNaseI in CDG-Ia cells, C-II restored glycosylation to control cell levels. C-II also corrected impaired LLO biosynthesis in cells from a Dolichol (Dol)-P-Man deficient patient (CDG-Ie) and partially corrected LLO in cells from an ALG12 mannosyltransferase-deficient patient (CDG-Ig), whereas cells from an ALG3-deficient patient (CDG-Id) and from an MPDU1-deficient patient (CDG-If) were not corrected. These results validate the general concept of using pro-Man-1-P substrates as potential therapeutics for CDG-I patients.

  7. Predictive factors for perioperative blood transfusion in surgeries for correction of idiopathic, neuromuscular or congenital scoliosis

    Directory of Open Access Journals (Sweden)

    Alexandre Fogaça Cristante

    2014-12-01

    Full Text Available OBJECTIVE: To evaluate the association of clinical and demographic variables in patients requiring blood transfusion during elective surgery to treat scoliosis with the aim of identifying markers predictive of the need for blood transfusion. METHODS: Based on the review of medical charts at a public university hospital, this retrospective study evaluated whether the following variables were associated with the need for red blood cell transfusion (measured by the number of packs used during scoliosis surgery: scoliotic angle, extent of arthrodesis (number of fused levels, sex of the patient, surgery duration and type of scoliosis (neuromuscular, congenital or idiopathic. RESULTS: Of the 94 patients evaluated in a 55-month period, none required a massive blood transfusion (most patients needed less than two red blood cell packs. The number of packs was not significantly associated with sex or type of scoliosis. The extent of arthrodesis (r = 0.103, surgery duration (r = 0.144 and scoliotic angle (r = 0.004 were weakly correlated with the need for blood transfusion. Linear regression analysis showed an association between the number of spine levels submitted to arthrodesis and the volume of blood used in transfusions (p = 0.001. CONCLUSION: This study did not reveal any evidence of a significant association between the need for red blood cell transfusion and scoliotic angle, sex or surgery duration in scoliosis correction surgery. Submission of more spinal levels to arthrodesis was associated with the use of a greater number of blood packs.

  8. Nail bed expansion: A new technique for correction of multiple isolated congenital micronychia

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    Gholamhossein Ghaffarpour

    2014-01-01

    Full Text Available Congenital micronychia may involve big toes or may involve other nails. The etiology of micronychia is not clear but amniotic bands, teratogens (drugs, alcohol, Nail Patella Syndrome etc. A 44-year-old woman with multiple isolated congenital micronychia over her hands and feet was selected. The major affected nails were thumbs and Index fingers. Surgical method were done step by step: Anesthesia of the area, extraction of short nail, elevation of nail bed, longitudinal nail bed incisions, suturing the lateral nail bed to the nail wall, covering the nail bed by a splint of plastic suction tube, bandage with gauze Vaseline. Finally, we hypnotized that in congenital micronychia, the main pathology is in nail bed; through this theory by nail bed expansion better outcomes are coming.

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

    Science.gov (United States)

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

    2015-01-01

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

  10. Morphosyntactic correctness of written language production in adults with moderate to severe congenital hearing loss

    NARCIS (Netherlands)

    Huysmans, Elke; de Jong, Jan; Festen, Joost M.; Coene, Martine M.R.; Goverts, S. Theo

    2017-01-01

    Objective To examine whether moderate to severe congenital hearing loss (MSCHL) leads to persistent morphosyntactic problems in the written language production of adults, as it does in their spoken language production. Design Samples of written language in Dutch were analysed for morphosyntactic

  11. Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models

    DEFF Research Database (Denmark)

    Kuang, W; Xu, H; Vachon, P H

    1998-01-01

    Humans and mice with deficiency of the alpha2 subunit of the basement membrane protein laminin-2/merosin suffer from merosin-deficient congenital muscular dystrophy (MCMD). We have expressed a human laminin alpha2 chain transgene under the regulation of a muscle-specific creatine kinase promoter...

  12. Late versus early surgical correction for congenital diaphragmatic hernia in newborn infants.

    Science.gov (United States)

    Moyer, V; Moya, F; Tibboel, R; Losty, P; Nagaya, M; Lally, K P

    2002-01-01

    Congenital diaphragmatic hernia, although rare (1 per 2-4,000 births), is associated with high mortality and cost. Opinion regarding the timing of surgical repair has gradually shifted from emergent repair to a policy of stabilization using a variety of ventilatory strategies prior to operation. Whether delayed surgery is beneficial remains controversial. To summarize the available data regarding whether surgical repair in the first 24 hours after birth rather than later than 24 hours of age improves survival to hospital discharge in infants with congenital diaphragmatic hernia who are symptomatic at or immediately after birth. Search of MEDLINE (1966-2002), EMBASE (1978-2002) and the Cochrane databases using the terms "congenital diaphragmatic hernia" and "surg*"; citations search, and contact with experts in the field to locate other published and unpublished studies. Studies were eligible for inclusion if they were randomized or quasi-randomized trials that addressed infants with CDH who were symptomatic at or shortly after birth, comparing early (24 hours) surgical intervention, and evaluated mortality as the primary outcome. Data were collected regarding study methods and outcomes including mortality, need for ECMO and duration of ventilation, both from the study reports and from personal communication with investigators. Analysis was performed in accordance with the standards of the Cochrane Neonatal Review Group. Two trials met the pre-specified inclusion criteria for this review. Both were small trials (total n<90) and neither showed any significant difference between groups in mortality. Meta-analysis was not performed because of significant clinical heterogeneity between the trials. There is no clear evidence which favors delayed (when stabilized) as compared with immediate (within 24 hours of birth) timing of surgical repair of congenital diaphragmatic hernia, but a substantial advantage to either one cannot be ruled out. A large, multicenter randomized

  13. Polybezoar in a child with Down's Syndrome after corrective surgery of congenital duodenal stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Arlart, I

    1980-11-01

    Case report of a mongoloid child (Trisomie 21), age 9, operated on in his neonatal period for congenital stenosis of the duodenum; now presenting with acute clinical signs of gastric outlet obstruction and increasing weight loss. Radiologic work-up showed this to be due to a large gastric and duodenal polybezoar, claimed to be due to emotional disturbance as part of this patients primary disease.

  14. Polybezoar in a child with Down's Syndrome after corrective surgery of congenital duodenal stenosis

    International Nuclear Information System (INIS)

    Arlart, I.

    1980-01-01

    Case report of a mongoloid child (Trisomie 21), age 9, operated on in his neonatal period for congenital stenosis of the duodenum; now presenting with acute clinical signs of gastric outlet obstruction and increasing weight loss. Radiologic work-up showed this to be due to a large gastric and duodenal polybezoar, claimed to be due to emotional disturbance as part of this patients primary disease. (orig.) [de

  15. The helical ventricular myocardial band of Torrent-Guasp: potential implications in congenital heart defects.

    Science.gov (United States)

    Corno, Antonio F; Kocica, Mladen J; Torrent-Guasp, Francisco

    2006-04-01

    The new concepts of cardiac anatomy and physiology, based on the observations made by Francisco Torrent-Guasp's discovery of the helical ventricular myocardial band, can be useful in the context of the surgical strategies currently used to manage patients with congenital heart defects. The potential impact of the Torrent-Guasp's Heart on congenital heart defects have been analyzed in the following settings: ventriculo-arterial discordance (transposition of the great arteries), double (atrio-ventricular and ventriculo-arterial) discordance (congenitally corrected transposition of the great arteries), Ebstein's anomaly, pulmonary valve regurgitation after repair of tetralogy of Fallot, Ross operation, and complex intra-ventricular malformations. The functional interaction of right and left ventricles occurs not only through their arrangements in series but also thanks to the structural spiral features. Changes in size and function of either ventricle may influence the performance of the other ventricle. The variety and complexity of congenital heart defects make the recognition of the relationship between form and function a vital component, especially when compared to acquired disease. The new concepts of cardiac anatomy and function proposed by Francisco Torrent-Guasp, based on his observations, should stimulate further investigations of alternative surgical strategies by individuals involved with the management of patients with congenital heart defects.

  16. Transposition of the great arteries - a phenotype associated with 16p11.2 duplications?

    Science.gov (United States)

    Karunanithi, Zarmiga; Vestergaard, Else Marie; Lauridsen, Mette H

    2017-12-26

    Genetic analyses of patients with transposition of the great arteries have identified rare copy number variations, suggesting that they may be significant to the aetiology of the disease. This paper reports the identification of a 16p11.2 microduplication, a variation that has yet to be reported in association with transposition of the great arteries. The 16p11.2 microduplication is associated with autism spectrum disorder and developmental delay, but with highly variable phenotypic effects. Autism and attention deficit disorders are observed more frequently in children with congenital heart disease than in the general population. Neonatal surgery is proposed as a risk factor, but as yet unidentified genetic abnormalities should also be taken into account. Thus, congenital heart abnormalities may constitute a part of the phenotypic spectrum associated with duplications at 16p11.2. We suggest chromosomal microarray be considered part of the diagnostic work-up in patients with transposition of the great arteries.

  17. Orthodontic treatment of the transposition of a maxillary canine and a first premolar: a case report.

    Science.gov (United States)

    Teresa, Dinoi Maria; Stefano, Mummolo; Annalisa, Monaco; Enrico, Marchetti; Vincenzo, Campanella; Giuseppe, Marzo

    2015-03-01

    Transposition is an anomaly of tooth position, the most frequent of which involves the canine and the first maxillary premolar. We describe the orthodontic treatment of a unilateral transposition of an upper canine and an upper right first premolar in the permanent dentition. A 12-year-old Caucasian boy presented with transposition of his upper right canine and upper right first premolar. He had combined surgical-orthodontic treatment to correct the transposition and to obtain a Class I relationship between the molar and canine. This treatment resolved the dental crowding and achieved good functional and aesthetic results. In transposition, the choice of the most suitable treatment depends on the occlusion, level of dental crowding, aesthetics, position of the radicular apices, and the specific needs of the patient. In this case, orthodontic alignment of the transposed teeth into their physiological position achieved all of our objectives and our patient was satisfied with the aesthetic results obtained.

  18. Non-conformable, partial and conformable transposition

    DEFF Research Database (Denmark)

    König, Thomas; Mäder, Lars Kai

    2013-01-01

    and the Commission regarding a directive’s outcome, play a much more strategic role than has to date acknowledged in the transposition literature. Whereas disagreement of a member state delays conformable transposition, it speeds up non-conformable transposition. Disagreement of the Commission only prolongs...... the transposition process. We therefore conclude that a stronger focus on an effective sanctioning mechanism is warranted for safeguarding compliance with directives....

  19. Spectrum of Congenital Heart Diseases in Eastern Nepal: A tertiary care hospital experience

    Directory of Open Access Journals (Sweden)

    Prashant Shah

    2017-01-01

    arteries, congenitally corrected transposition of great arteries, various types of total anomalous pulmonary venous drainage, double inlet left ventricle, interrupted aortic arch, Shone complex, etc. were also observed, however represented only the minority of the study population.Conclusion: The spectrum of congenital heart disease seen in this study very likely and only represents the tip of the iceberg. Public awareness programmes and training of health care personnel needs to be emphasized in order to facilitate its early diagnosis and improve its outcome.

  20. Lung scintiscanning in corrective surgery of congenital heart disease, 2. Tetralogy of Fallot

    Energy Technology Data Exchange (ETDEWEB)

    Endo, K. (Iwate Medical Coll., Morioka (Japan). School of Medicine)

    1981-06-01

    Lung scintiscanning was performed to investigate the distribution of pulmonary blood flow before and after surgery in 30 patients with tetralogy of Fallot. Uniformity of lung scintigram and the derangement of the distribution pattern were observed preoperatively and postoperatively. The results were as follows: 1) Preoperatively, uniformity of lung scintigram was 27.7 - 100% (average 63.4%). It is more necessary to construct the outflow tract in most cases, when the PA/Ao diameter ratio was lower than 0.5 and uniformity of lung scintigram was under 50%. Besides, preoperative uniformity of lung scintigram correlated with the degree of polycythemia. In 3 cases who died after corrective surgery, the value of uniformity of lung scintigram was as low as 33.3 - 61.1%. 2) Preoperative pulmonary blood flow disturbances were found in 50% of 30 cases. In all of the cases without pulmonary blood flow disturbances, total correction was successfully performed. On the other hand, in cases with pulmonary blood flow disturbances, the result of total correction was not satisfactory. 3) In cases with the slight and moderately deranged distribution preoperatively, postoperative follow up study by scintiscanning at 1 to 2 months after surgery showed considerately more improvement of pulmonary blood flow.

  1. Mandibular Symmetrical Bilateral Canine-Lateral Incisors Transposition: Its Early Diagnosis and Treatment Considerations

    Directory of Open Access Journals (Sweden)

    Yehoshua Shapira

    2016-01-01

    Full Text Available Bilateral mandibular tooth transposition is a relatively rare dental anomaly caused by distal migration of the mandibular lateral incisors and can be detected in the early mixed dentition by radiographic examination. Early diagnosis and interceptive intervention may reduce the risk of possible transposition between the mandibular canine and lateral incisor. This report illustrates the orthodontic management of bilateral mandibular canine-lateral incisor transposition. Correct positioning of the affected teeth was achieved on the left side while teeth on the right side were aligned in their transposed position. It demonstrates the outcome of good alignment of the teeth in the dental arch.

  2. Mandibular Symmetrical Bilateral Canine-Lateral Incisors Transposition: Its Early Diagnosis and Treatment Considerations.

    Science.gov (United States)

    Shapira, Yehoshua; Finkelstein, Tamar; Kadry, Rana; Schonberger, Shirley; Shpack, Nir

    2016-01-01

    Bilateral mandibular tooth transposition is a relatively rare dental anomaly caused by distal migration of the mandibular lateral incisors and can be detected in the early mixed dentition by radiographic examination. Early diagnosis and interceptive intervention may reduce the risk of possible transposition between the mandibular canine and lateral incisor. This report illustrates the orthodontic management of bilateral mandibular canine-lateral incisor transposition. Correct positioning of the affected teeth was achieved on the left side while teeth on the right side were aligned in their transposed position. It demonstrates the outcome of good alignment of the teeth in the dental arch.

  3. Partial Transposition on Bipartite System

    International Nuclear Information System (INIS)

    Xi-Jun, Ren; Yong-Jian, Han; Yu-Chun, Wu; Guang-Can, Guo

    2008-01-01

    Many properties of partial transposition are unclear as yet. Here we carefully consider the number of the negative eigenvalues of ρ T (ρ's partial transposition) when ρ is a two-partite state. There is strong evidence to show that the number of negative eigenvalues of ρ T is N(N − 1)/2 at most when ρ is a state in Hilbert space C N C N . For the special case, the 2 × 2 system, we use this result to give a partial proof of the conjecture |ρ T | T ≥ 0. We find that this conjecture is strongly connected with the entanglement of the state corresponding to the negative eigenvalue of ρ T or the negative entropy of ρ

  4. An unanswered question in pediatric urology: the post pubertal persistence of prepubertal congenital penile curvature correction by tunical plication.

    Science.gov (United States)

    Ozkuvanci, Ünsal; Ziylan, Orhan; Dönmez, M Irfan; Yucel, Omer Baris; Oktar, Tayfun; Ander, Haluk; Nane, Ismet

    2017-01-01

    The aim of this study is to analyze post pubertal results of pre pubertal tunica albuginea plication with non-absorbable sutures in the correction of CPC. The files of patients who underwent tunica albuginea plication without incision (dorsal/lateral) were retrospectively reviewed. Patients younger than 13 years of age at the time of operation and older than 14 years of age in November 2015 were included. Patients with a penile curvature of less than 30 degrees & more than 45 degrees and penile/urethral anomalies were excluded. All of the patients underwent surgery followed by circumcision. The mean age of patients at the time of the operation was 9.7 years (range, 6-13 years). The mean degree of ventral penile curvature measured during the operation was 39 degrees while it was 41 degrees in the lateral curvatures. All of the patients were curvature-free at the end of the operation. At the time of the follow-up examination, the mean age was 16.7 years (range, 14-25 years). Six patients had a straight (0-10 degrees) penis during erection and seven patients had recurrent penile curvatures ranging from 30 to 50 degrees. Pre pubertal tunica albuginea plication of congenital penile curvature (30-45 degrees) with non-absorbable sutures performed without incision is a minimal invasive method especially when performed during circumcision. However, recurrence might be observed in half of the patients after puberty. Copyright® by the International Brazilian Journal of Urology.

  5. An unanswered question in pediatric urology: the post pubertal persistence of prepubertal congenital penile curvature correction by tunical plication

    Directory of Open Access Journals (Sweden)

    Ünsal Ozkuvanci

    Full Text Available ABSTRACT Objective: The aim of this study is to analyze post pubertal results of pre pubertal tunica albuginea plication with non-absorbable sutures in the correction of CPC. Materials and Methods: The files of patients who underwent tunica albuginea plication without incision (dorsal/lateral were retrospectively reviewed. Patients younger than 13 years of age at the time of operation and older than 14 years of age in November 2015 were included. Patients with a penile curvature of less than 30 degrees & more than 45 degrees and penile/urethral anomalies were excluded. All of the patients underwent surgery followed by circumcision. Results: The mean age of patients at the time of the operation was 9.7 years (range, 6-13 years. The mean degree of ventral penile curvature measured during the operation was 39 degrees while it was 41 degrees in the lateral curvatures. All of the patients were curvature-free at the end of the operation. At the time of the follow-up examination, the mean age was 16.7 years (range, 14-25 years. Six patients had a straight (0-10 degrees penis during erection and seven patients had recurrent penile curvatures ranging from 30 to 50 degrees. Conclusion: Pre pubertal tunica albuginea plication of congenital penile curvature (30-45 degrees with non-absorbable sutures performed without incision is a minimal invasive method especially when performed during circumcision. However, recurrence might be observed in half of the patients after puberty.

  6. Corrective Surgery for Congenital Scoliosis Associated with Split Cord Malformation: It May Be Safe to Leave Diastematomyelia Untreated in Patients with Intact or Stable Neurological Status.

    Science.gov (United States)

    Shen, Jianxiong; Zhang, Jianguo; Feng, Fan; Wang, Yipeng; Qiu, Guixing; Li, Zheng

    2016-06-01

    The treatment of congenital scoliosis associated with split cord malformation (SCM) raises the issue of how to best manage such patients to avoid neurological deficit while achieving a satisfactory correction. This prospective clinical study was performed at our center from March 2000 through June 2013. We enrolled a total of 214 patients (61 male and 153 female) with congenital scoliosis associated with SCM who were undergoing spinal correction surgery. The mean age at surgery was 14.1 years. The inclusion criteria were congenital scoliosis with confirmed SCM; status as neurologically intact or stable over the preceding 2 years; and no neurological deterioration as evidenced on traction, side-bending, or fulcrum-bending radiographs. Patients with unstable neurological status or for whom vertebral column resection surgery was planned were excluded. All patients underwent scoliosis surgery without prophylactic detethering. On the basis of the Pang classification, 73 patients were in the type-I SCM group, and 141 were in the type-II SCM group. The groups did not differ significantly with respect to preoperative characteristics, operative time, blood loss, or number of levels fused. The mean follow-up was 37 months (range, 24 to 108 months). The rate of scoliosis correction was lower in the type-I group than in the type-II group (p patients experienced transient neurological complications, with no significant difference between the groups (p = 0.415). No patient experienced permanent neurological deficit during surgery or follow-up. Patients with congenital scoliosis associated with SCM, regardless of type, can safely and effectively undergo spinal deformity correction and achieve spinal balance without neurological intervention. For such patients with intact or stable neurological status, prophylactic detethering prior to scoliosis surgery may not be necessary. Therapeutic Level II. See Instructions for Authors for a complete description of levels of evidence

  7. Syllable Transposition Effects in Korean Word Recognition

    Science.gov (United States)

    Lee, Chang H.; Kwon, Youan; Kim, Kyungil; Rastle, Kathleen

    2015-01-01

    Research on the impact of letter transpositions in visual word recognition has yielded important clues about the nature of orthographic representations. This study investigated the impact of syllable transpositions on the recognition of Korean multisyllabic words. Results showed that rejection latencies in visual lexical decision for…

  8. Transposition of Domain Knowledge into Educational Games

    DEFF Research Database (Denmark)

    Marchetti, Emanuela; Jensen, Kristoffer; Valente, Andrea

    2014-01-01

    Starting from Rogoff’s (1990) theory of apprenticeship in thinking and Apter’s (1987) reversal theory, this paper discusses the formulation of PlayDT (Playful Domain Transposition), a new approach to support the transposition of complex concepts, from different knowledge domains, into playful int...

  9. Correction

    DEFF Research Database (Denmark)

    Pinkevych, Mykola; Cromer, Deborah; Tolstrup, Martin

    2016-01-01

    [This corrects the article DOI: 10.1371/journal.ppat.1005000.][This corrects the article DOI: 10.1371/journal.ppat.1005740.][This corrects the article DOI: 10.1371/journal.ppat.1005679.].......[This corrects the article DOI: 10.1371/journal.ppat.1005000.][This corrects the article DOI: 10.1371/journal.ppat.1005740.][This corrects the article DOI: 10.1371/journal.ppat.1005679.]....

  10. Transposition and national level resources

    DEFF Research Database (Denmark)

    Vasev, Nikolay Rumenov; Vrangbæk, Karsten

    2014-01-01

    Several recent papers have summarised the status of EU implementation studies. In this paper we suggest that the issue of sector specific resources has received too little attention in previous studies. Sector specific resources include “health sector resources” and “state administrative resources......”. Our theoretical contribution is thus to add an explicit and more detailed concern for "sector specific resources" in national transposition. This can refine the understanding of resources, for example in the multi-variable models that are emerging as the state of the art in the field of EU...... implementation studies. To illustrate these points we have chosen an empirical design focusing on a directive with a potentially high impact on system resources and several ambiguous components (the Cross Border Health Care Directive). We have further chosen to focus on two Eastern European countries (Bulgaria...

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

    Directory of Open Access Journals (Sweden)

    I.P. Zhurylo

    2014-09-01

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

  12. Adult Congenital Heart Disease with Pregnancy

    Science.gov (United States)

    2018-01-01

    The number of women with congenital heart disease (CHD) at risk of pregnancy is growing because over 90% of them are grown-up into adulthood. The outcome of pregnancy and delivery is favorable in most of them provided that functional class and systemic ventricular function are good. Women with CHD such as pulmonary hypertension (Eisenmenger syndrome), severe left ventricular outflow stenosis, cyanotic CHD, aortopathy, Fontan procedure and systemic right ventricle (complete transposition of the great arteries [TGA] after atrial switch, congenitally corrected TGA) carry a high-risk. Most frequent complications during pregnancy and delivery are heart failure, arrhythmias, bleeding or thrombosis, and rarely maternal death. Complications of fetus are prematurity, low birth weight, abortion, and stillbirth. Risk stratification of pregnancy and delivery relates to functional status of the patient and is lesion specific. Medication during pregnancy and post-delivery (breast feeding) is a big concern. Especially prescribing medication with teratogenicity should be avoidable. Adequate care during pregnancy, delivery, and the postpartum period requires a multidisciplinary team approach with cardiologists, obstetricians, anesthesiologists, neonatologists, nurses and other related disciplines. Caring for a baby is an important issue due to temporarily pregnancy-induced cardiac dysfunction, and therefore familial support is mandatory especially during peripartum and after delivery. Timely pre-pregnancy counseling should be offered to all women with CHD to prevent avoidable pregnancy-related risks. Successful pregnancy is feasible for most women with CHD at relatively low risk when appropriate counseling and optimal care are provided. PMID:29625509

  13. The transposition distance for phylogenetic trees

    OpenAIRE

    Rossello, Francesc; Valiente, Gabriel

    2006-01-01

    The search for similarity and dissimilarity measures on phylogenetic trees has been motivated by the computation of consensus trees, the search by similarity in phylogenetic databases, and the assessment of clustering results in bioinformatics. The transposition distance for fully resolved phylogenetic trees is a recent addition to the extensive collection of available metrics for comparing phylogenetic trees. In this paper, we generalize the transposition distance from fully resolved to arbi...

  14. A case of severe and rigid congenital thoracolumbar lordoscoliosis with diastematomyelia presenting with type 2 respiratory failure: managed by staged correction with controlled axial traction.

    Science.gov (United States)

    Kanagaraju, Vijayanth; Chhabra, H S; Srivastava, Abhishek; Mahajan, Rajat; Kaul, Rahul; Bhatia, Pallav; Tandon, Vikas; Nanda, Ankur; Sangondimath, Gururaj; Patel, Nishit

    2016-10-01

    Congenital lordoscoliosis is an uncommon pathology and its management poses formidable challenge especially in the presence of type 2 respiratory failure and intraspinal anomalies. In such patients standard management protocols are not applicable and may require multistage procedure to minimize risk and optimize results. A 15-year-old girl presented in our hospital emergency services with severe breathing difficulty. She had a severe and rapidly progressing deformity in her back, noted since 6 years of age, associated with severe respiratory distress requiring oxygen and BiPAP support. She was diagnosed to have a severe and rigid congenital right thoracolumbar lordoscoliosis (coronal Cobb's angle: 105° and thoracic lordosis -10°) with type 1 split cord malformation with bony septum extending from T11 to L3. This leads to presentation of restrictive lung disease with type 2 respiratory failure. As her lung condition did not allow for any major procedure, we did a staged procedure rather than executing in a single stage. Controlled axial traction by halogravity was applied initially followed by halo-femoral traction. Four weeks later, this was replaced by halo-pelvic distraction device after a posterior release procedure with asymmetric pedicle substraction osteotomies at T7 and T10. Halo-pelvic distraction continued for 4 more weeks to optimize and correct the deformity. Subsequently definitive posterior stabilization and fusion was done. The detrimental effect of diastematomyelia resection in such cases is clearly evident from literature, so it was left unresected. A good scoliotic correction with improved respiratory function was achieved. Three years follow-up showed no loss of deformity correction, no evidence of pseudarthrosis and a good clinical outcome with reasonably balanced spine. The management of severe and rigid congenital lordoscoliotic deformities with intraspinal anomalies is challenging. Progressive reduction in respiratory volume in untreated

  15. Histologic examination of hepatic biopsy samples as a prognostic indicator in dogs undergoing surgical correction of congenital portosystemic shunts: 64 cases (1997-2005).

    Science.gov (United States)

    Parker, Jacquelyn S; Monnet, Eric; Powers, Barbara E; Twedt, David C

    2008-05-15

    To determine whether results of histologic examination of hepatic biopsy samples could be used as an indicator of survival time in dogs that underwent surgical correction of a congenital portosystemic shunt (PSS). Retrospective case series. 64 dogs that underwent exploratory laparotomy for an extrahepatic (n = 39) or intrahepatic (25) congenital PSS. All H&E-stained histologic slides of hepatic biopsy samples obtained at the time of surgery were reviewed by a single individual, and severity of histologic abnormalities (ie, arteriolar hyperplasia, biliary hyperplasia, fibrosis, cell swelling, lipidosis, lymphoplasmacytic cholangiohepatitis, suppurative cholangiohepatitis, lipid granulomas, and dilated sinusoids) was graded. A Cox proportional hazards regression model was used to determine whether each histologic feature was associated with survival time. Median follow-up time was 35.7 months, and median survival time was 50.6 months. Thirty-eight dogs were alive at the time of final follow-up; 15 had died of causes associated with the PSS, including 4 that died immediately after surgery; 3 had died of unrelated causes; and 8 were lost to follow-up. None of the histologic features examined were significantly associated with survival time. Findings suggested that results of histologic examination of hepatic biopsy samples obtained at the time of surgery cannot be used to predict long-term outcome in dogs undergoing surgical correction of a PSS.

  16. Macrovascular Decompression of the Brainstem and Cranial Nerves: Evolution of an Anteromedial Vertebrobasilar Artery Transposition Technique.

    Science.gov (United States)

    Choudhri, Omar; Connolly, Ian D; Lawton, Michael T

    2017-08-01

    Tortuous and dolichoectatic vertebrobasilar arteries can impinge on the brainstem and cranial nerves to cause compression syndromes. Transposition techniques are often required to decompress the brainstem with dolichoectatic pathology. We describe our evolution of an anteromedial transposition technique and its efficacy in decompressing the brainstem and relieving symptoms. To present the anteromedial vertebrobasilar artery transposition technique for macrovascular decompression of the brainstem and cranial nerves. All patients who underwent vertebrobasilar artery transposition were identified from the prospectively maintained database of the Vascular Neurosurgery service, and their medical records were reviewed retrospectively. The extent of arterial displacement was measured pre- and postoperatively on imaging. Vertebrobasilar arterial transposition and macrovascular decompression was performed in 12 patients. Evolution in technique was characterized by gradual preference for the far-lateral approach, use of a sling technique with muslin wrap, and an anteromedial direction of pull on the vertebrobasilar artery with clip-assisted tethering to the clival dura. With this technique, mean lateral displacement decreased from 6.6 mm in the first half of the series to 3.8 mm in the last half of the series, and mean anterior displacement increased from 0.8 to 2.5 mm, with corresponding increases in satisfaction and relief of symptoms. Compressive dolichoectatic pathology directed laterally into cranial nerves and posteriorly into the brainstem can be corrected with anteromedial transposition towards the clivus. Our technique accomplishes this anteromedial transposition from an inferolateral surgical approach through the vagoaccessory triangle, with sling fixation to clival dura using aneurysm clips. Copyright © 2017 by the Congress of Neurological Surgeons

  17. Interdisciplinary approach for bilateral maxillary canine: First premolar transposition with complex problems in an adult patient

    Directory of Open Access Journals (Sweden)

    Dhivakar Selvaraj

    2013-01-01

    Full Text Available Adult patients seeking orthodontic care were increased nowadays not only on esthetic need but also on functional demand. But problems with adult patients were not only malocclusions but also dental caries, pulpal pathology, missing teeth, muco-gingival problems and loss of supporting structures. We report here a case of 35-year-old female with complete transposition referred as a positional interchange of two permanent teeth within the same quadrant of the dental arch along with gingival recession of the lower anteriors and missing molars. Gingival health was improved by free gingival graft in lower anteriors followed by fixed orthodontic procedure to correct transposition. Based on transposition crown recontouring and restoration was done along with replacement of missing molars with fixed prosthesis. Thus, proper treatment planning with interdisciplinary management improves not only the esthetics and occlusal relationship but also with stable results.

  18. Integration of Computed Tomography and Three-Dimensional Echocardiography for Hybrid Three-Dimensional Printing in Congenital Heart Disease.

    Science.gov (United States)

    Gosnell, Jordan; Pietila, Todd; Samuel, Bennett P; Kurup, Harikrishnan K N; Haw, Marcus P; Vettukattil, Joseph J

    2016-12-01

    Three-dimensional (3D) printing is an emerging technology aiding diagnostics, education, and interventional, and surgical planning in congenital heart disease (CHD). Three-dimensional printing has been derived from computed tomography, cardiac magnetic resonance, and 3D echocardiography. However, individually the imaging modalities may not provide adequate visualization of complex CHD. The integration of the strengths of two or more imaging modalities has the potential to enhance visualization of cardiac pathomorphology. We describe the feasibility of hybrid 3D printing from two imaging modalities in a patient with congenitally corrected transposition of the great arteries (L-TGA). Hybrid 3D printing may be useful as an additional tool for cardiologists and cardiothoracic surgeons in planning interventions in children and adults with CHD.

  19. Comparison of hemihypoglossal-facial nerve transposition with a cross-facial nerve graft and muscle transplant for the rehabilitation of facial paralysis using the facial clima method.

    Science.gov (United States)

    Hontanilla, Bernardo; Vila, Antonio

    2012-02-01

    To compare quantitatively the results obtained after hemihypoglossal nerve transposition and microvascular gracilis transfer associated with a cross facial nerve graft (CFNG) for reanimation of a paralysed face, 66 patients underwent hemihypoglossal transposition (n = 25) or microvascular gracilis transfer and CFNG (n = 41). The commissural displacement (CD) and commissural contraction velocity (CCV) in the two groups were compared using the system known as Facial clima. There was no inter-group variability between the groups (p > 0.10) in either variable. However, intra-group variability was detected between the affected and healthy side in the transposition group (p = 0.036 and p = 0.017, respectively). The transfer group had greater symmetry in displacement of the commissure (CD) and commissural contraction velocity (CCV) than the transposition group and patients were more satisfied. However, the transposition group had correct symmetry at rest but more asymmetry of CCV and CD when smiling.

  20. Partial transposition on bi-partite system

    OpenAIRE

    Han, Y. -J.; Ren, X. J.; Wu, Y. C.; Guo, G. -C.

    2006-01-01

    Many of the properties of the partial transposition are not clear so far. Here the number of the negative eigenvalues of K(T)(the partial transposition of K) is considered carefully when K is a two-partite state. There are strong evidences to show that the number of negative eigenvalues of K(T) is N(N-1)/2 at most when K is a state in Hilbert space N*N. For the special case, 2*2 system(two qubits), we use this result to give a partial proof of the conjecture sqrt(K(T))(T)>=0. We find that thi...

  1. Permanent magnet machine with windings having strand transposition

    Science.gov (United States)

    Qu, Ronghai; Jansen, Patrick Lee

    2009-04-21

    This document discusses, among other things, a stator with transposition between the windings or coils. The coils are free from transposition to increase the fill factor of the stator slots. The transposition at the end connections between an inner coil and an outer coil provide transposition to reduce circulating current loss. The increased fill factor reduces further current losses. Such a stator is used in a dual rotor, permanent magnet machine, for example, in a compressor pump, wind turbine gearbox, wind turbine rotor.

  2. Impact of pacing on systemic ventricular function in L-transposition of the great arteries.

    Science.gov (United States)

    Hofferberth, Sophie C; Alexander, Mark E; Mah, Douglas Y; Bautista-Hernandez, Victor; del Nido, Pedro J; Fynn-Thompson, Francis

    2016-01-01

    To assess the impact of univentricular versus biventricular pacing (BiVP) on systemic ventricular function in patients with congenitally corrected transposition of the great arteries (ccTGA). We performed a retrospective review of all patients with a diagnosis of ccTGA who underwent pacemaker insertion. From 1993 to 2014, 53 patients were identified from the cardiology database and surgical records. Overall mortality was 7.5% (n = 4). One patient required transplantation and 3 late deaths occurred secondary to end-stage heart failure. Median follow-up was 3.7 years (range, 4 days to 22.5 years). Twenty-five (47%) underwent univentricular pacing only, of these, 8 (32%) developed significant systemic ventricular dysfunction. Twenty-eight (53%) received BiVP, 17 (26%) were upgraded from a dual-chamber system, 11 (21%) received primary BiVP. Fourteen (82%) of the 17 undergoing secondary BiVP demonstrated systemic ventricular dysfunction at the time of pacer upgrade, with 7 (50%) demonstrating improved systemic ventricular function after pacemaker upgrade. Overall, 42 (79%) patients underwent univentricular pacing, with 22 (52%) developing significant systemic ventricular dysfunction. In contrast, the 11 (21%) who received primary BiVP had preserved systemic ventricular function at latest follow-up. Late-onset systemic ventricular dysfunction is a major complication associated with the use of univentricular pacing in patients with ccTGA. All patients with ccTGA who develop heart block should undergo primary biventricular pacing, as this prevents late systemic ventricular dysfunction. Preemptive placement of BiVP leads at the time of anatomical repair or other permanent palliative procedure will facilitate subsequent BiVP should heart block develop. Copyright © 2016 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

  3. Correction

    CERN Multimedia

    2002-01-01

    Tile Calorimeter modules stored at CERN. The larger modules belong to the Barrel, whereas the smaller ones are for the two Extended Barrels. (The article was about the completion of the 64 modules for one of the latter.) The photo on the first page of the Bulletin n°26/2002, from 24 July 2002, illustrating the article «The ATLAS Tile Calorimeter gets into shape» was published with a wrong caption. We would like to apologise for this mistake and so publish it again with the correct caption.

  4. Correction

    Directory of Open Access Journals (Sweden)

    2012-01-01

    Full Text Available Regarding Gorelik, G., & Shackelford, T.K. (2011. Human sexual conflict from molecules to culture. Evolutionary Psychology, 9, 564–587: The authors wish to correct an omission in citation to the existing literature. In the final paragraph on p. 570, we neglected to cite Burch and Gallup (2006 [Burch, R. L., & Gallup, G. G., Jr. (2006. The psychobiology of human semen. In S. M. Platek & T. K. Shackelford (Eds., Female infidelity and paternal uncertainty (pp. 141–172. New York: Cambridge University Press.]. Burch and Gallup (2006 reviewed the relevant literature on FSH and LH discussed in this paragraph, and should have been cited accordingly. In addition, Burch and Gallup (2006 should have been cited as the originators of the hypothesis regarding the role of FSH and LH in the semen of rapists. The authors apologize for this oversight.

  5. Correction

    CERN Multimedia

    2002-01-01

    The photo on the second page of the Bulletin n°48/2002, from 25 November 2002, illustrating the article «Spanish Visit to CERN» was published with a wrong caption. We would like to apologise for this mistake and so publish it again with the correct caption.   The Spanish delegation, accompanied by Spanish scientists at CERN, also visited the LHC superconducting magnet test hall (photo). From left to right: Felix Rodriguez Mateos of CERN LHC Division, Josep Piqué i Camps, Spanish Minister of Science and Technology, César Dopazo, Director-General of CIEMAT (Spanish Research Centre for Energy, Environment and Technology), Juan Antonio Rubio, ETT Division Leader at CERN, Manuel Aguilar-Benitez, Spanish Delegate to Council, Manuel Delfino, IT Division Leader at CERN, and Gonzalo León, Secretary-General of Scientific Policy to the Minister.

  6. Correction

    Directory of Open Access Journals (Sweden)

    2014-01-01

    Full Text Available Regarding Tagler, M. J., and Jeffers, H. M. (2013. Sex differences in attitudes toward partner infidelity. Evolutionary Psychology, 11, 821–832: The authors wish to correct values in the originally published manuscript. Specifically, incorrect 95% confidence intervals around the Cohen's d values were reported on page 826 of the manuscript where we reported the within-sex simple effects for the significant Participant Sex × Infidelity Type interaction (first paragraph, and for attitudes toward partner infidelity (second paragraph. Corrected values are presented in bold below. The authors would like to thank Dr. Bernard Beins at Ithaca College for bringing these errors to our attention. Men rated sexual infidelity significantly more distressing (M = 4.69, SD = 0.74 than they rated emotional infidelity (M = 4.32, SD = 0.92, F(1, 322 = 23.96, p < .001, d = 0.44, 95% CI [0.23, 0.65], but there was little difference between women's ratings of sexual (M = 4.80, SD = 0.48 and emotional infidelity (M = 4.76, SD = 0.57, F(1, 322 = 0.48, p = .29, d = 0.08, 95% CI [−0.10, 0.26]. As expected, men rated sexual infidelity (M = 1.44, SD = 0.70 more negatively than they rated emotional infidelity (M = 2.66, SD = 1.37, F(1, 322 = 120.00, p < .001, d = 1.12, 95% CI [0.85, 1.39]. Although women also rated sexual infidelity (M = 1.40, SD = 0.62 more negatively than they rated emotional infidelity (M = 2.09, SD = 1.10, this difference was not as large and thus in the evolutionary theory supportive direction, F(1, 322 = 72.03, p < .001, d = 0.77, 95% CI [0.60, 0.94].

  7. A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation

    Directory of Open Access Journals (Sweden)

    Jaime Chu

    2013-01-01

    Individuals with congenital disorders of glycosylation (CDG have recessive mutations in genes required for protein N-glycosylation, resulting in multi-systemic disease. Despite the well-characterized biochemical consequences in these individuals, the underlying cellular defects that contribute to CDG are not well understood. Synthesis of the lipid-linked oligosaccharide (LLO, which serves as the sugar donor for the N-glycosylation of secretory proteins, requires conversion of fructose-6-phosphate to mannose-6-phosphate via the phosphomannose isomerase (MPI enzyme. Individuals who are deficient in MPI present with bleeding, diarrhea, edema, gastrointestinal bleeding and liver fibrosis. MPI-CDG patients can be treated with oral mannose supplements, which is converted to mannose-6-phosphate through a minor complementary metabolic pathway, restoring protein glycosylation and ameliorating most symptoms, although liver disease continues to progress. Because Mpi deletion in mice causes early embryonic lethality and thus is difficult to study, we used zebrafish to establish a model of MPI-CDG. We used a morpholino to block mpi mRNA translation and established a concentration that consistently yielded 13% residual Mpi enzyme activity at 4 days post-fertilization (dpf, which is within the range of MPI activity detected in fibroblasts from MPI-CDG patients. Fluorophore-assisted carbohydrate electrophoresis detected decreased LLO and N-glycans in mpi morphants. These deficiencies resulted in 50% embryonic lethality by 4 dpf. Multi-systemic abnormalities, including small eyes, dysmorphic jaws, pericardial edema, a small liver and curled tails, occurred in 82% of the surviving larvae. Importantly, these phenotypes could be rescued with mannose supplementation. Thus, parallel processes in fish and humans contribute to the phenotypes caused by Mpi depletion. Interestingly, mannose was only effective if provided prior to 24 hpf. These data provide insight into treatment efficacy

  8. Pig transgenesis by Sleeping Beauty DNA transposition

    DEFF Research Database (Denmark)

    Jakobsen, Jannik E.; Li, Juan; Kragh, Peter M.

    2011-01-01

    disease models. In this report, we present transgenic pigs created by Sleeping Beauty DNA transposition in primary porcine fibroblasts in combination with somatic cell nuclear transfer by handmade cloning. Göttingen minipigs expressing green fluorescent protein are produced by transgenesis with DNA...... plasmid DNA. Our findings illustrate critical issues related to DNA transposon-directed transgenesis, including coincidental plasmid insertion and relatively low Sleeping Beauty transposition activity in porcine fibroblasts, but also provide a platform for future development of porcine disease models......Modelling of human disease in genetically engineered pigs provides unique possibilities in biomedical research and in studies of disease intervention. Establishment of methodologies that allow efficient gene insertion by non-viral gene carriers is an important step towards development of new...

  9. Didaktisk Transposition:Fra teori til forskningsprogram

    OpenAIRE

    Achiam, Marianne

    2014-01-01

    The term didactic transposition refers to the deconstruction and reconstruction of science knowledge, values or practices in order to make them teachable. In this paper, I present the theoretical framework that has grown around this notion. I use examples from different levels of science education and different subjects to illustrate how science is transformed in any teaching undertaking, and how that transformation influences the way science is experienced and appropriated by learners. The c...

  10. Target Capture during Mos1 Transposition*

    Science.gov (United States)

    Pflieger, Aude; Jaillet, Jerôme; Petit, Agnès; Augé-Gouillou, Corinne; Renault, Sylvaine

    2014-01-01

    DNA transposition contributes to genomic plasticity. Target capture is a key step in the transposition process, because it contributes to the selection of new insertion sites. Nothing or little is known about how eukaryotic mariner DNA transposons trigger this step. In the case of Mos1, biochemistry and crystallography have deciphered several inverted terminal repeat-transposase complexes that are intermediates during transposition. However, the target capture complex is still unknown. Here, we show that the preintegration complex (i.e., the excised transposon) is the only complex able to capture a target DNA. Mos1 transposase does not support target commitment, which has been proposed to explain Mos1 random genomic integrations within host genomes. We demonstrate that the TA dinucleotide used as the target is crucial both to target recognition and in the chemistry of the strand transfer reaction. Bent DNA molecules are better targets for the capture when the target DNA is nicked two nucleotides apart from the TA. They improve strand transfer when the target DNA contains a mismatch near the TA dinucleotide. PMID:24269942

  11. Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.

    Science.gov (United States)

    Caires-Júnior, Luiz Carlos; Goulart, Ernesto; Melo, Uirá Souto; Araujo, Bruno Henrique Silva; Alvizi, Lucas; Soares-Schanoski, Alessandra; de Oliveira, Danyllo Felipe; Kobayashi, Gerson Shigeru; Griesi-Oliveira, Karina; Musso, Camila Manso; Amaral, Murilo Sena; daSilva, Lucas Ferreira; Astray, Renato Mancini; Suárez-Patiño, Sandra Fernanda; Ventini, Daniella Cristina; da Silva, Sérgio Gomes; Yamamoto, Guilherme Lopes; Ezquina, Suzana; Naslavsky, Michel Satya; Telles-Silva, Kayque Alves; Weinmann, Karina; van der Linden, Vanessa; van der Linden, Helio; de Oliveira, João Ricardo Mendes; Arrais, Nivia Maria Rodrigues; Melo, Adriana; Figueiredo, Thalita; Santos, Silvana; Meira, Joanna Goes Castro; Passos, Saulo Duarte; de Almeida, Roque Pacheco; Bispo, Ana Jovina Barreto; Cavalheiro, Esper Abrão; Kalil, Jorge; Cunha-Neto, Edécio; Nakaya, Helder; Andreata-Santos, Robert; de Souza Ferreira, Luis Carlos; Verjovski-Almeida, Sergio; Ho, Paulo Lee; Passos-Bueno, Maria Rita; Zatz, Mayana

    2018-03-13

    The original PDF version of this Article contained errors in the spelling of Luiz Carlos Caires-Júnior, Uirá Souto Melo, Bruno Henrique Silva Araujo, Alessandra Soares-Schanoski, Murilo Sena Amaral, Kayque Alves Telles-Silva, Vanessa van der Linden, Helio van der Linden, João Ricardo Mendes de Oliveira, Nivia Maria Rodrigues Arrais, Joanna Goes Castro Meira, Ana Jovina Barreto Bispo, Esper Abrão Cavalheiro, and Robert Andreata-Santos, which were incorrectly given as Luiz Carlos de Caires Jr., UiráSouto Melo, Bruno Silva Henrique Araujo, Alessandra Soares Schanoski, MuriloSena Amaral, Kayque Telles Alves Silva, Vanessa Van der Linden, Helio Van der Linden, João Mendes Ricardo de Oliveira, Nivia Rodrigues Maria Arrais, Joanna Castro Goes Meira, Ana JovinaBarreto Bispo, EsperAbrão Cavalheiro, and Robert Andreata Santos. Furthermore, in both the PDF and HTML versions of the Article, the top panel of Fig. 3e was incorrectly labeled '10608-1' and should have been '10608-4', and financial support from CAPES and DECIT-MS was inadvertently omitted from the Acknowledgements section. These errors have now been corrected in both the PDF and HTML versions of the Article.

  12. A 1.375-approximation algorithm for sorting by transpositions.

    Science.gov (United States)

    Elias, Isaac; Hartman, Tzvika

    2006-01-01

    Sorting permutations by transpositions is an important problem in genome rearrangements. A transposition is a rearrangement operation in which a segment is cut out of the permutation and pasted in a different location. The complexity of this problem is still open and it has been a 10-year-old open problem to improve the best known 1.5-approximation algorithm. In this paper, we provide a 1.375-approximation algorithm for sorting by transpositions. The algorithm is based on a new upper bound on the diameter of 3-permutations. In addition, we present some new results regarding the transposition diameter: we improve the lower bound for the transposition diameter of the symmetric group and determine the exact transposition diameter of simple permutations.

  13. Transposition of the great arteries in MRI; Transposition der grossen Arterien im MRT des Herzens

    Energy Technology Data Exchange (ETDEWEB)

    Zaehringer, C.; Leiner, T.; Maki, J.H.; Potthast, S.

    2014-02-15

    The contribution on transposition of the great arteries (TGA) in the heart NMR images covers the following issues: different forms of TGA (dextro-TGA and levo-TGA), therapeutic options, long-term complication of TGA and the importance of heart NMR imaging in case of TGA.

  14. [Correction of congenital malformations by custom-made silicone implants: Contribution of computer-aided design. Experience of 611 cases].

    Science.gov (United States)

    Chavoin, J P; Chaput, B; Garrido, I; Moreno, B; Dahan, M; Grolleau, J L

    2016-10-01

    Modern techniques of computer-aided design and tridimensional prototyping for manufacturing silicone elastomer custom implants are growing. They have widely modified the surgical indications in our unit. By presenting their experience of 611 cases managed between 1993 and 2016, the authors describe the method of conception from CT-scans, the virtual image of the body and the manufacture of the custom-made implant perfectly adapted to the anatomy of each one. The operative techniques are described for the three main indications: the funnel chest or pectus excavatum (474 cases) according to a modified CHIN classification is corrected simply and very satisfactorily. This approach may render thoracic surgery techniques obsolete. Indeed, these operations remain risky and of doubtful functional utility; Poland syndrome (116 cases), where the use of a custom-made implant for compensation of muscle volume is frequently used, but can be improved by a transfer of adipose tissue or a classic breast implant; the leg atrophies (21 cases) receive custom elastomer implants introduced in a sub-fascial plane. The results are excellent for pectus excavatum but more difficult to optimize for the other two indications, requiring sometimes complementary techniques. Complications are rare and often benign, implants endure for life. Quality of life, psychological comfort and self-esteem have been improved with low morbidity and without having undergone a painful surgical experience. Reconstructive procedures of congenital malformations by custom-made silicone implants open a new field of activity for our surgical specialty with vast opportunities. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  15. Parallel transposition of sparse data structures

    DEFF Research Database (Denmark)

    Wang, Hao; Liu, Weifeng; Hou, Kaixi

    2016-01-01

    Many applications in computational sciences and social sciences exploit sparsity and connectivity of acquired data. Even though many parallel sparse primitives such as sparse matrix-vector (SpMV) multiplication have been extensively studied, some other important building blocks, e.g., parallel tr...... transposition in the latest vendor-supplied library on an Intel multicore CPU platform, and the MergeTrans approach achieves on average of 3.4-fold (up to 11.7-fold) speedup on an Intel Xeon Phi many-core processor....

  16. Echocardiographic diagnosis of transposition of the great arteries associated with anomalous pulmonary venous connection

    Directory of Open Access Journals (Sweden)

    Lilian Maria Lopes

    2001-07-01

    Full Text Available We report 2 cases of transposition of the great arteries associated with anomalous pulmonary venous connection emphasizing the clinical findings, the diagnosis, and the evolution of the association. One of the patients had the anomalous pulmonary venous connection in its total infradiaphragmatic form, in the portal system, and the other patient had a partial form, in which an anomalous connection of the left superior lobar vein with the innominate vein existed. At the time of hospital admission, the patients had cyanosis and respiratory distress with clinical findings suggesting transposition of the great arteries. The diagnosis in 1 of the cases, in which the anomalous connection was partial, was established only with echocardiography, without invasive procedures that would represent risk for the patient; in the other case, in which the anomalous connection was total, the malformation was only evidenced with catheterization. The patients underwent surgery for anatomical correction of the heart disease. Only 1 patient had a good outcome.

  17. Improving the accuracy of flood forecasting with transpositions of ensemble NWP rainfall fields considering orographic effects

    Science.gov (United States)

    Yu, Wansik; Nakakita, Eiichi; Kim, Sunmin; Yamaguchi, Kosei

    2016-08-01

    The use of meteorological ensembles to produce sets of hydrological predictions increased the capability to issue flood warnings. However, space scale of the hydrological domain is still much finer than meteorological model, and NWP models have challenges with displacement. The main objective of this study to enhance the transposition method proposed in Yu et al. (2014) and to suggest the post-processing ensemble flood forecasting method for the real-time updating and the accuracy improvement of flood forecasts that considers the separation of the orographic rainfall and the correction of misplaced rain distributions using additional ensemble information through the transposition of rain distributions. In the first step of the proposed method, ensemble forecast rainfalls from a numerical weather prediction (NWP) model are separated into orographic and non-orographic rainfall fields using atmospheric variables and the extraction of topographic effect. Then the non-orographic rainfall fields are examined by the transposition scheme to produce additional ensemble information and new ensemble NWP rainfall fields are calculated by recombining the transposition results of non-orographic rain fields with separated orographic rainfall fields for a generation of place-corrected ensemble information. Then, the additional ensemble information is applied into a hydrologic model for post-flood forecasting with a 6-h interval. The newly proposed method has a clear advantage to improve the accuracy of mean value of ensemble flood forecasting. Our study is carried out and verified using the largest flood event by typhoon 'Talas' of 2011 over the two catchments, which are Futatsuno (356.1 km2) and Nanairo (182.1 km2) dam catchments of Shingu river basin (2360 km2), which is located in the Kii peninsula, Japan.

  18. Uso de pericardio bovino para la corrección de cardiopatías congénitas Use of bovine pericardium for correcting congenital cardiopathies

    Directory of Open Access Journals (Sweden)

    Juan C Rendón

    2007-08-01

    una herramienta útil para la corrección de cardiopatías congénitas. Las características del tejido ofrecen al cirujano ventajas como el fácil moldeamiento, lo que permite implantarlo en diferentes zonas anatómicas.Bovine pericardial patch has been utilized as an alternative for different surgical pathologies, including congenital heart malformations. Nevertheless, there are only few articles that report the experience with this kind of patch. The objective of this study is to evaluate the experience with the use of bovine pericardium for the reconstruction of cardiopathies in the Santa Maria Cardiovascular Clinic Medellín since 1994. Materials and methods: 520 patients underwent a corrective or palliative surgical procedure of a congenital heart disease in which the bovine pericardial patch was utilized. 163 of these patients had at least two years follow-up. The localization of the patch, as well as the kind of procedures, the survival, calcifications, aneurysms and leaks, were evaluated. The functional class was evaluated as well and the patients’ survival was compared according to the localization and the kind of patch. Results: 520 procedures were realized using the bovine pericardial patch. Prevalent malformations were septal defects (58% followed by the tetralogy of Fallot (16%.The patch was also used in total or partial anomalous venous connections, and pulmonary atresia among others. 50.9% was localized in a systemic way and 49.7% in the pulmonary circulation. According to the localization, 50.3% were intracardiac and 49.7% extracardiac. Two leaks, two bleedings and three re-interventions were reported during the implantation. During the follow-up only three leaks were reported. Global survival was 95%. There were no significant differences in survival with intra or extracardiac patches or in those that supported pulmonary or systemic circulation. No calcifications were reported. 95% of patients were in functional class I or II, and the rest in III

  19. 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 ...

  20. Effectiveness of simulator-based echocardiography training of noncardiologists in congenital heart diseases.

    Science.gov (United States)

    Wagner, Robert; Razek, Vit; Gräfe, Florentine; Berlage, Thomas; Janoušek, Jan; Daehnert, Ingo; Weidenbach, Michael

    2013-07-01

    Congenital heart diseases (CHD) are responsible for substantial morbidity and mortality in neonates. The preliminary diagnosis often is made by noncardiologists. For this reason, there is a huge demand of training in echocardiography of CHD. This is difficult to achieve due to limited resources of specialized centers. The goal of this study was to investigate the training effect of the echocardiography simulator EchoCom on trainee's ability to diagnose CHD. We enrolled 10 residents for simulator-based training in echocardiography of CHD. All participants were instructed on the simulator's basic handling and had one hour to scan the first 9 datasets information (ventricular septal defect, atrial septal defect, atrioventricular septal defect, Tetralogy of Fallot, transposition of great arteries, congenital corrected transposition of great arteries, common arterial trunk, hypoplastic left heart syndrome, normal anatomy) and establish a diagnosis. No help was given except for support regarding simulator related issues. Afterward, 2 rounds of structured simulator based echocardiography training focused on echocardiographic anatomy, spatial orientation, standard views, and echocardiographic anatomy of different CHD followed. All participants completed a standardized questionnaire containing 10 multiple-choice (MC) questions focusing on basic theoretical knowledge in echocardiographic anatomy and common CHD. Almost all of the residents invited from the affiliated children's hospital had little (20%) or no experience (80%) in echocardiography of CHD. Their Pretest and Posttest scores showed significant improvement for both, MC test and performance test, respectively. Our study showed that simulator-based training in echocardiography in CHD could be very effective and may assist with training outside the scope of CHD. © 2013, Wiley Periodicals, Inc.

  1. Cyanotic Congenital Heart Defects – literature review

    Directory of Open Access Journals (Sweden)

    Vlad Drăgoi

    2017-11-01

    Full Text Available Congenital heart defects are one of the most interesting and important chapters regarding abnormal fetal growth pathology. The objective of this article is to present a literature review for the main cyanotic congenital heart defects. The ones presented in the article are: tetralogy of Fallot, transposition of the great vessels, double outlet right ventricle, truncus arteriosus, total anomalous pulmonary venous circulation and additional information regarding very rare malformations such as pentalogy of Cantrell and Uhl anomaly. An early and precise identification of congenital heart defects is an important step in an accurate follow-up of a potential problematic pregnancy. Knowing the sonographic aspect, associated pathology and the current available treatment procedures are vital for the fetal outcome and for the physician to adapt the right management in every situation that might appear during the pregnancy and in the neonatal period.

  2. Ovarian transposition in young women and fertility sparing.

    Science.gov (United States)

    Mossa, B; Schimberni, M; Di Benedetto, L; Mossa, S

    2015-09-01

    Ovarian transposition is a highly effective surgical procedure used to preserve ovarian function in premenopausal patients with cancers requiring postoperative or primary pelvic radiotherapy. Pelvic irradiation determines severe damage of ovarian DNA and iatrogenic ovarian failure with premature menopause, necessity of long-term hormone replacement therapy and infertility. We conducted an extensive research of the literature in Medline between January 2000 and April 2015 using the key-words "ovarian transposition radiotherapy", "radiotherapy gonadal function", radiotherapy fertility sparing". The population included young women with normal ovarian function affected by cancers that required pelvic radiotherapy. We have examined 32 articles reporting on 1189 women undergoing ovarian transposition. Median age was 32.5 years, follow up was median 48 months. The procedure has been performed in patients less than 40 years of age. Surgery has been achieved by laparotomy or laparoscoy. We have analyzed effects of radiotherapy on ovarian function. The proportion of women treated by ovarian transposition preserved ovarian function was 70%. About 86% of patients did not develop ovarian cysts and in 98-99% of cases did not occur any metastatic disease. Ovarian transposition is associated with significant preservation of ovarian function and a low frequency of complications as cysts and metastasis. In 31% of cases the procedure can fail. Further studies are needed to evaluate the efficacy of ovarian transposition and the follow up. Ovarian transposition should be discussed at the time of cancer diagnosis in every premenopausal woman requiring pelvic radiotherapy.

  3. Superior Oblique Anterior Transposition with Horizontal Recti Recession-Resection for Total Third-Nerve Palsy

    Directory of Open Access Journals (Sweden)

    Muhsin Eraslan

    2015-01-01

    Full Text Available Aims. To report the results of lateral rectus muscle recession, medial rectus muscle resection, and superior oblique muscle transposition in the restoration and maintenance of ocular alignment in primary position for patients with total third-nerve palsy. Methods. The medical records of patients who underwent surgery between March 2007 and September 2011 for total third-nerve palsy were reviewed. All patients underwent a preoperative assessment, including a detailed ophthalmologic examination. Results. A total of 6 patients (age range, 14–45 years were included. The median preoperative horizontal deviation was 67.5 Prism Diopter (PD (interquartile range [IQR] 57.5–70 and vertical deviation was 13.5 PD (IQR 10–20. The median postoperative horizontal residual exodeviation was 8.0 PD (IQR 1–16, and the vertical deviation was 0 PD (IQR 0–4. The median correction of hypotropia following superior oblique transposition was 13.5 ± 2.9 PD (range, 10–16. All cases were vertically aligned within 5 PD. Four of the six cases were aligned within 10 PD of the horizontal deviation. Adduction and head posture were improved in all patients. All patients gained new area of binocular single vision in the primary position after the operation. Conclusion. Lateral rectus recession, medial rectus resection, and superior oblique transposition may be used to achieve satisfactory cosmetic and functional results in total third-nerve palsy.

  4. Early treatment of an ectopic premolar to prevent molar-premolar transposition.

    Science.gov (United States)

    Cannavale, Rosangela; Matarese, Giovanni; Isola, Gaetano; Grassia, Vincenzo; Perillo, Letizia

    2013-04-01

    Orthodontic treatment is planned on an individual, case-by-case basis after thoroughly considering the patient's overall facial and dental characteristics, the expected duration of treatment, costs, patient preferences, and the orthodontist's experience. This article reports the treatment of a patient with a maxillary premolar-molar transposition in the permanent dentition that was successfully managed with orthodontic treatment. A girl, aged 10 years 2 months, came for treatment with an ectopic maxillary left premolar. Radiographic analysis indicated a developing complete transposition of the maxillary left premolar. The patient was treated with extraction of the deciduous molar and surgical exposure and ligation of the premolar. Eruption was properly guided, and the correct order of the 2 teeth was restored in the arch. This challenging treatment approach is described in detail, including the mechanics used to align the ectopic premolar. Early treatment can, in many cases, prevent a molar-premolar transposition. Copyright © 2013 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

  5. Nonsurgical endodontic retreatment of fused teeth with transposition: a case report

    Directory of Open Access Journals (Sweden)

    Miguel Agostinho Beco Pinto Cardoso

    2016-05-01

    Full Text Available Tooth transposition is a disorder in which a permanent tooth develops and erupts in the normal position of another permanent tooth. Fusion and gemination are developmental disturbances presenting as the union of teeth. This article reports the nonsurgical retreatment of a very rare case of fused teeth with transposition. A patient was referred for endodontic treatment of her maxillary left first molar in the position of the first premolar, which was adjacent to it on the distobuccal side. Orthopantomography and periapical radiography showed two crowns sharing the same root, with a root canal treatment and an associated periapical lesion. Tooth fusion with transposition of a maxillary molar and a premolar was diagnosed. Nonsurgical endodontic retreatment was performed. At four yr follow-up, the tooth was asymptomatic and the radiolucency around the apical region had decreased, showing the success of our intervention. The diagnosis and treatment of fused teeth require special attention. The canal system should be carefully explored to obtain a full understanding of the anatomy, allowing it to be fully cleaned and obturated. Thermoplastic techniques were useful in obtaining hermetic obturation. A correct anatomical evaluation improves the set of treatment options under consideration, leading to a higher likelihood of esthetically and functionally successful treatment.

  6. Omental pedicle transposition and suture repair of peripheral nerve ...

    African Journals Online (AJOL)

    Abu wael

    This study aimed to compare the effectiveness of omental pedicle transposition and ... Assessment of the nerve regeneration was based on functional (motor and sensory), ..... peripheral nerve fibers regenerating after crush, multiple crush, and.

  7. Transposon display supports transpositional activity of P elements in ...

    Indian Academy of Sciences (India)

    . Abstract. Mobilization of two P element subfamilies (canonical and O-type) from Drosophila sturtevanti and D. saltans was evaluated for copy number and transposition activity using the transposon display (TD) technique. Pairwise distances ...

  8. Universal platform for quantitative analysis of DNA transposition

    Directory of Open Access Journals (Sweden)

    Pajunen Maria I

    2010-11-01

    Full Text Available Abstract Background Completed genome projects have revealed an astonishing diversity of transposable genetic elements, implying the existence of novel element families yet to be discovered from diverse life forms. Concurrently, several better understood transposon systems have been exploited as efficient tools in molecular biology and genomics applications. Characterization of new mobile elements and improvement of the existing transposition technology platforms warrant easy-to-use assays for the quantitative analysis of DNA transposition. Results Here we developed a universal in vivo platform for the analysis of transposition frequency with class II mobile elements, i.e., DNA transposons. For each particular transposon system, cloning of the transposon ends and the cognate transposase gene, in three consecutive steps, generates a multifunctional plasmid, which drives inducible expression of the transposase gene and includes a mobilisable lacZ-containing reporter transposon. The assay scores transposition events as blue microcolonies, papillae, growing within otherwise whitish Escherichia coli colonies on indicator plates. We developed the assay using phage Mu transposition as a test model and validated the platform using various MuA transposase mutants. For further validation and to illustrate universality, we introduced IS903 transposition system components into the assay. The developed assay is adjustable to a desired level of initial transposition via the control of a plasmid-borne E. coli arabinose promoter. In practice, the transposition frequency is modulated by varying the concentration of arabinose or glucose in the growth medium. We show that variable levels of transpositional activity can be analysed, thus enabling straightforward screens for hyper- or hypoactive transposase mutants, regardless of the original wild-type activity level. Conclusions The established universal papillation assay platform should be widely applicable to a

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

    Science.gov (United States)

    Ali, Ahmed Ali Abdelrahim

    2018-01-01

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

  10. Regulation of mariner transposition: the peculiar case of Mos1.

    Directory of Open Access Journals (Sweden)

    Jérôme Jaillet

    Full Text Available BACKGROUND: Mariner elements represent the most successful family of autonomous DNA transposons, being present in various plant and animal genomes, including humans. The introduction and co-evolution of mariners within host genomes imply a strict regulation of the transposon activity. Biochemical data accumulated during the past decade have led to a convergent picture of the transposition cycle of mariner elements, suggesting that mariner transposition does not rely on host-specific factors. This model does not account for differences of transposition efficiency in human cells between mariners. We thus wondered whether apparent similarities in transposition cycle could hide differences in the intrinsic parameters that control mariner transposition. PRINCIPAL FINDINGS: We find that Mos1 transposase concentrations in excess to the Mos1 ends prevent the paired-end complex assembly. However, we observe that Mos1 transposition is not impaired by transposase high concentration, dismissing the idea that transposase over production plays an obligatory role in the down-regulation of mariner transposition. Our main finding is that the paired-end complex is formed in a cooperative way, regardless of the transposase concentration. We also show that an element framed by two identical ITRs (Inverted Terminal Repeats is more efficient in driving transposition than an element framed by two different ITRs (i.e. the natural Mos1 copy, the latter being more sensitive to transposase concentration variations. Finally, we show that the current Mos1 ITRs correspond to the ancestral ones. CONCLUSIONS: We provide new insights on intrinsic properties supporting the self-regulation of the Mos1 element. These properties (transposase specific activity, aggregation, ITR sequences, transposase concentration/transposon copy number ratio... could have played a role in the dynamics of host-genomes invasion by Mos1, accounting (at least in part for the current low copy number of

  11. Theoretical Basics of the Transpositional Grammar of Russian Language

    Directory of Open Access Journals (Sweden)

    Victor Vasilievich Shigurov

    2016-09-01

    Full Text Available The article presents the theoretical basics of the transpositional grammar of the Russian language (as the special areas of the functional grammar, which serves as a mechanism for describing the subject of the transposition of the linguistic units from one class (or interclass semantic-syntactic category to another (or others. The relation to the transposition of the grammar and vocabulary (word-formation was displayed; a typology of the transpositional processes in grammatical structure of the Russian language was submitted, and above all, in the parts of the speech and inter part-of-speech classes, grammatical categories and lexical-grammatical classes; general and specific objectives of the study types of transposition of the linguistic units were defined; the fragments of the description of the transition and syncretism of the language units were offered using the technique of opposition analysis and indexation. The results can be used in the development of the theory of the transpositional grammar of the Russian language.

  12. Successful pregnancy after office microlaparoscopic correction of tubal herneation for a very rare congenital fimbrial-ovarian relationship, a case report

    Directory of Open Access Journals (Sweden)

    Emad M. Siam

    2011-09-01

    Here, a case is described in which a very rare congenital tubo-ovarian relationship had been observed and assessed during routine laparoscopy to discover the cause of delayed conception after previous spontaneous pregnancy. This very rare tubo-ovarian relationship had been observed directly using a newly advanced fiber optic 2 mm microlaparoscopic set, in an office procedure under augmented local anesthesia in stead of the conventional 10 mm laparoscopy.

  13. No-Go Zones for Mariner Transposition

    Directory of Open Access Journals (Sweden)

    Brian J. Akerley

    2016-10-01

    Full Text Available The property of transposons to randomly insert into target DNA has long been exploited for generalized mutagenesis and forward genetic screens. Newer applications that monitor the relative abundance of each transposon insertion in large libraries of mutants can be used to evaluate the roles in cellular fitness of all genes of an organism, provided that transposition is in fact random across all genes. In a recent article, Kimura and colleagues identified an important exception to the latter assumption [S. Kimura, T. P. Hubbard, B. M. Davis, M. K. Waldor, mBio 7(4:e01351-16, 2016, doi:10.1128/mBio.01351-16]. They provide evidence that the Mariner transposon exhibits locus-specific site preferences in the presence of the histone-like nucleoid structuring protein H-NS. This effect was shown to bias results for important virulence loci in Vibrio cholerae and to result in misidentification of genes involved in growth in vitro. Fortunately, the bulk of this bacterium’s genome was unaffected by this bias, and recognizing the H-NS effect allows filtering to improve the accuracy of the results.

  14. Tibiofibula Transposition in High-Energy Fractures

    Directory of Open Access Journals (Sweden)

    Peter R. Loughenbury

    2016-01-01

    Full Text Available We report two cases of failed attempts at closed reduction of high-energy tibial fractures with an associated fibula fracture. The first case was a 39-year-old male involved in high-speed motorbike collision, while the second was a 14-year-old male who injured his leg following a fall of three metres. Emergency medical services at the scenes of the accidents reported a 90-degree valgus deformity of the injured limb and both limbs were realigned on scene and stabilized. Adequate alignment of the tibia could not be achieved by manipulation under sedation or anaesthesia. Open reduction and exposure of the fracture sites revealed that the distal fibula fragment was “transposed” and entrapped in the medulla of the proximal tibial fragment. Reduction required simulation of the mechanism of injury in order to disengage the fragments and allow reduction. Tibiofibula transposition is a rare complication of high-energy lower limb fractures which has not previously been reported and may prevent adequate closed reduction. Impaction of the distal fibula within the tibial medulla occurs as the limb is realigned by paramedic staff before transfer to hospital. We recommend that when this complication is identified the patient is transferred to the operating room for open reduction and stabilization of the fracture.

  15. Congenital tuberculosis

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-06-20

    Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

  16. Congenital Abnormalities

    Science.gov (United States)

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

  17. [Penile congenital abnormalities].

    Science.gov (United States)

    Boillot, B; Teklali, Y; Moog, R; Droupy, S

    2013-07-01

    Congenital abnormalities of the penis are usually diagnosed at birth and pose aesthetic and functional problems sometimes requiring surgical management. A literature review was conducted on Medline considering the articles listed until January 2012. Hypospadias is the most common malformation (1 in 250 boys. Familial forms: 7%). The causes remain hypothetical but the doubling of the incidence in 30 years could be linked to fetal exposure to endocrine disruptors "estrogen-like" used in the food industry in particular. Surgical treatment is usually intended to improve the aesthetic appearance but sometimes, in case of significant curvature or posterior meatus, necessary for normal sexual life and fertility. Other malformations (epispades, buried penis, transpositions, twists and preputial abnormalities) as well as management for functional or aesthetic consequences of these malformations in adulthood require complex surgical care in a specialized environment. The improvement of surgical techniques and pediatric anesthesia allows an early and effective specialized surgical approach of penile malformations. Management of sequelae in adulthood must be discussed and requires experience of surgical techniques on pediatric and adult penis. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  18. Significance of MR imaging in congenital heart disease

    International Nuclear Information System (INIS)

    Mayr, H.; Globits, S.; Frank, H.; Glogar, D.; Nouhold, A.; Imhof, H.

    1989-01-01

    To determine the diagnostic impact of MR imaging in congenital heart disease, the authors used a 0.5- or 1.5-T magnet to examine 85 patients. Multisection spin-echo images were obtained in three planes. Diagnoses included atrial septal defect, trilogy and tetralogy of Fallot, ventricular septal defect, transposition (seven), single ventricle, and other complex disorders. Compared with other noninvasive techniques, MR imaging allowed a much better visualization of anatomic structures and the relationship of great vessels to shunt lesions in complex congenital heart disease. In 53 (63%) of 85 patients, MR imaging made a major contribution to establishing or modifying diagnoses

  19. Systemic Right Ventricle in Adults With Congenital Heart Disease: Anatomic and Phenotypic Spectrum and Current Approach to Management.

    Science.gov (United States)

    Brida, Margarita; Diller, Gerhard-Paul; Gatzoulis, Michael A

    2018-01-30

    The systemic right ventricle (SRV) is commonly encountered in congenital heart disease representing a distinctly different model in terms of its anatomic spectrum, adaptation, clinical phenotype, and variable, but overall guarded prognosis. The most common clinical scenarios where an SRV is encountered are complete transposition of the great arteries with previous atrial switch repair, congenitally corrected transposition of the great arteries, double inlet right ventricle mostly with previous Fontan palliation, and hypoplastic left heart syndrome palliated with the Norwood-Fontan protocol. The reasons for the guarded prognosis of the SRV in comparison with the systemic left ventricle are multifactorial, including distinct fibromuscular architecture, shape and function, coronary artery supply mismatch, intrinsic abnormalities of the tricuspid valve, intrinsic or acquired conduction abnormalities, and varied SRV adaptation to pressure or volume overload. Management of the SRV remains an ongoing challenge because SRV dysfunction has implications on short- and long-term outcomes for all patients irrespective of underlying cardiac morphology. SRV dysfunction can be subclinical, underscoring the need for tertiary follow-up and timely management of target hemodynamic lesions. Catheter interventions and surgery have an established role in selected patients. Cardiac resynchronization therapy is increasingly used, whereas pharmacological therapy is largely empirical. Mechanical assist device and heart transplantation remain options in end-stage heart failure when other management strategies have been exhausted. The present report focuses on the SRV with its pathological subtypes, pathophysiology, clinical features, current management strategies, and long-term sequelae. Although our article touches on issues applicable to neonates and children, its main focus is on adults with SRV. © 2018 American Heart Association, Inc.

  20. 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.”

  1. Profiles in congenital heart disease

    International Nuclear Information System (INIS)

    Freed, M.D.; Keane, J.F.

    1986-01-01

    Pediatric cardiology has made great strides in the diagnosis, management, and correction of complex congenital malformations in the past two decades. The foundation of these advances is a more precise understanding of the physiology and anatomy of complex lesions that has been obtained from cardiac catheterization and angiography. The techniques for catheterization of infants and children have been discussed in another paper. This chapter focuses on brief profiles of some of the more important congenital abnormalities. The incidence cited in the discussion of each abnormality pertains to a population comprises of children and adults referred to The Children's Hospital Medical Center and Peter Bent Brigham Hospital, respectively, for evaluation of congenital heart disease

  2. Gene transposition causing natural variation for growth in Arabidopsis thaliana.

    Science.gov (United States)

    Vlad, Daniela; Rappaport, Fabrice; Simon, Matthieu; Loudet, Olivier

    2010-05-13

    A major challenge in biology is to identify molecular polymorphisms responsible for variation in complex traits of evolutionary and agricultural interest. Using the advantages of Arabidopsis thaliana as a model species, we sought to identify new genes and genetic mechanisms underlying natural variation for shoot growth using quantitative genetic strategies. More quantitative trait loci (QTL) still need be resolved to draw a general picture as to how and where in the pathways adaptation is shaping natural variation and the type of molecular variation involved. Phenotypic variation for shoot growth in the Bur-0 x Col-0 recombinant inbred line set was decomposed into several QTLs. Nearly-isogenic lines generated from the residual heterozygosity segregating among lines revealed an even more complex picture, with major variation controlled by opposite linked loci and masked by the segregation bias due to the defective phenotype of SG3 (Shoot Growth-3), as well as epistasis with SG3i (SG3-interactor). Using principally a fine-mapping strategy, we have identified the underlying gene causing phenotypic variation at SG3: At4g30720 codes for a new chloroplast-located protein essential to ensure a correct electron flow through the photosynthetic chain and, hence, photosynthesis efficiency and normal growth. The SG3/SG3i interaction is the result of a structural polymorphism originating from the duplication of the gene followed by divergent paralogue's loss between parental accessions. Species-wide, our results illustrate the very dynamic rate of duplication/transposition, even over short periods of time, resulting in several divergent--but still functional-combinations of alleles fixed in different backgrounds. In predominantly selfing species like Arabidopsis, this variation remains hidden in wild populations but is potentially revealed when divergent individuals outcross. This work highlights the need for improved tools and algorithms to resolve structural variation

  3. Congenital rubella

    Science.gov (United States)

    ... that usually closes shortly after birth remains open ( patent ductus arteriosus ) Narrowing of the large artery that ... prior to pregnancy can prevent congenital rubella. Pregnant women who have not had the vaccine should avoid ...

  4. Known knowns, known unknowns and unknown unknowns in prokaryotic transposition.

    Science.gov (United States)

    Siguier, Patricia; Gourbeyre, Edith; Chandler, Michael

    2017-08-01

    Although the phenomenon of transposition has been known for over 60 years, its overarching importance in modifying and streamlining genomes took some time to recognize. In spite of a robust understanding of transposition of some TE, there remain a number of important TE groups with potential high genome impact and unknown transposition mechanisms and yet others, only recently identified by bioinformatics, yet to be formally confirmed as mobile. Here, we point to some areas of limited understanding concerning well established important TE groups with DDE Tpases, to address central gaps in our knowledge of characterised Tn with other types of Tpases and finally, to highlight new potentially mobile DNA species. It is not exhaustive. Examples have been chosen to provide encouragement in the continued exploration of the considerable prokaryotic mobilome especially in light of the current threat to public health posed by the spread of multiple Ab R . Copyright © 2017 Elsevier Ltd. All rights reserved.

  5. Unilateral and bilateral dental transpositions in the maxilla

    DEFF Research Database (Denmark)

    Danielsen, Jakob Christian; Karimian, K; Ciarlantini, R

    2015-01-01

    and lateral incisor (Type 2). The dentitions were analysed regarding agenesis and dental morphological anomalies on panoramic radiographs, and craniofacial aspects were cephalometrically analysed on profile images The results were statistically evaluated. RESULTS: All groups demonstrated increased occurrences......AIM: This was to elucidate dental and skeletal findings in individuals with unilateral and bilateral maxillary dental transpositions. MATERIAL AND METHODS: The sample comprised of radiographic materials from 63 individuals with maxillary dental transpositions from the Departments of Odontology...... retrognathia (more pronounced in Type 1B). Type 2 showed a significant posterior inclination of the maxilla. CONCLUSION: Transpositions of maxillary canines involve dental and skeletal deviations. Dental deviations were predominantly taurodontic root morphology and agenesis. Regarding skeletal deviations...

  6. Congenital heart disease with high origin of coronary artery

    International Nuclear Information System (INIS)

    Zhu Ming; Li Yuhua; Zhong Yumin

    2002-01-01

    Objective: To report 6 cases of congenital heart disease with high origin of coronary artery and to evaluate the imaging method for diagnosis of congenital high origin of coronary artery. Methods: Six patients with congenital high origin of coronary artery underwent angiocardiography, echocardiography, and 2 patients also underwent magnetic resonance examination. All 6 cases were confirmed by operation. Results: All 6 cases were congenital high origin of right coronary artery. Angiocardiography made correct diagnosis in all 6 cases; MRI made the correct diagnosis in 1 of the 2 cases; echocardiography made 1 correct diagnosis. Conclusion: Correct diagnosis of congenital high origin of coronary artery was very important for patients with congenital heart disease. Angiocardiography was a very reliable imaging method and MRI can play an important role in preoperative diagnosis of congenital high origin of coronary artery

  7. Method and structure for cache aware transposition via rectangular subsections

    Science.gov (United States)

    Gustavson, Fred Gehrung; Gunnels, John A

    2014-02-04

    A method and structure for transposing a rectangular matrix A in a computer includes subdividing the rectangular matrix A into one or more square submatrices and executing an in-place transposition for each of the square submatrices A.sub.ij.

  8. Efficient Sleeping Beauty DNA Transposition From DNA Minicircles

    Directory of Open Access Journals (Sweden)

    Nynne Sharma

    2013-01-01

    Full Text Available DNA transposon-based vectors have emerged as new potential delivery tools in therapeutic gene transfer. Such vectors are now showing promise in hematopoietic stem cells and primary human T cells, and clinical trials with transposon-engineered cells are on the way. However, the use of plasmid DNA as a carrier of the vector raises safety concerns due to the undesirable administration of bacterial sequences. To optimize vectors based on the Sleeping Beauty (SB DNA transposon for clinical use, we examine here SB transposition from DNA minicircles (MCs devoid of the bacterial plasmid backbone. Potent DNA transposition, directed by the hyperactive SB100X transposase, is demonstrated from MC donors, and the stable transfection rate is significantly enhanced by expressing the SB100X transposase from MCs. The stable transfection rate is inversely related to the size of circular donor, suggesting that a MC-based SB transposition system benefits primarily from an increased cellular uptake and/or enhanced expression which can be observed with DNA MCs. DNA transposon and transposase MCs are easily produced, are favorable in size, do not carry irrelevant DNA, and are robust substrates for DNA transposition. In accordance, DNA MCs should become a standard source of DNA transposons not only in therapeutic settings but also in the daily use of the SB system.

  9. Esthetics with prosthetics in case of maxillary canine transposition: A ...

    African Journals Online (AJOL)

    Esthetics with prosthetics in case of maxillary canine transposition: A clinical report. ... provides a helpful Frequently Asked Questions about PDFs. Alternatively, you can download the PDF file directly to your computer, from where it can be opened using a PDF reader. To download the PDF, click the Download link above.

  10. Esthetics with prosthetics in case of maxillary canine transposition: A ...

    African Journals Online (AJOL)

    These are mainly genetically governed and are treated orthodontically if complete segment of tooth is present; in case of missing teeth, participation of cosmetic dentist is must. The present case report describes a situation where left canine to lateral incisor complete transposition was present along with a missing left central ...

  11. Anterior transposition of the radial nerve--a cadaveric study.

    Science.gov (United States)

    Yakkanti, Madhusudhan R; Roberts, Craig S; Murphy, Joshua; Acland, Robert D

    2008-01-01

    The radial nerve is at risk during the posterior plating of the humerus. The purpose of this anatomic study was to assess the extent of radial nerve dissection required for anterior transposition through the fracture site (transfracture anterior transposition). A cadaver study was conducted approaching the humerus by a posterior midline incision. The extent of dissection of the nerve necessary for plate fixation of the humerus fracture was measured. An osteotomy was created to model a humeral shaft fracture at the spiral groove (OTA classification 12-A2, 12-A3). The radial nerve was then transposed anterior to the humeral shaft through the fracture site. The additional dissection of the radial nerve and the extent of release of soft tissue from the humerus shaft to achieve the transposition were measured. Plating required a dissection of the radial nerve 1.78 cm proximal and 2.13 cm distal to the spiral groove. Transfracture anterior transposition of the radial nerve required an average dissection of 2.24 cm proximal and 2.68 cm distal to the spiral groove. The lateral intermuscular septum had to be released for 2.21 cm on the distal fragment to maintain laxity of the transposed nerve. Transfracture anterior transposition of the radial nerve before plating is feasible with dissection proximal and distal to the spiral groove and elevation of the lateral intermuscular septum. Potential clinical advantages of this technique include enhanced fracture site visualization, application of broader plates, and protection of the radial nerve during the internal fixation.

  12. Involvement of a bifunctional, paired-like DNA-binding domain and a transpositional enhancer in Sleeping Beauty transposition.

    Science.gov (United States)

    Izsvák, Zsuzsanna; Khare, Dheeraj; Behlke, Joachim; Heinemann, Udo; Plasterk, Ronald H; Ivics, Zoltán

    2002-09-13

    Sleeping Beauty (SB) is the most active Tc1/mariner-like transposon in vertebrate species. Each of the terminal inverted repeats (IRs) of SB contains two transposase-binding sites (DRs). This feature, termed the IR/DR structure, is conserved in a group of Tc1-like transposons. The DNA-binding region of SB transposase, similar to the paired domain of Pax proteins, consists of two helix-turn-helix subdomains (PAI + RED = PAIRED). The N-terminal PAI subdomain was found to play a dominant role in contacting the DRs. Transposase was able to bind to mutant sites retaining the 3' part of the DRs; thus, primary DNA binding is not sufficient to determine the specificity of the transposition reaction. The PAI subdomain was also found to bind to a transpositional enhancer-like sequence within the left IR of SB, and to mediate protein-protein interactions between transposase subunits. A tetrameric form of the transposase was detected in solution, consistent with an interaction between the IR/DR structure and a transposase tetramer. We propose a model in which the transpositional enhancer and the PAI subdomain stabilize complexes formed by a transposase tetramer bound at the IR/DR. These interactions may result in enhanced stability of synaptic complexes, which might explain the efficient transposition of Sleeping Beauty in vertebrate cells.

  13. 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.

  14. Procedimento de Lecompte para a correção de transposição das grandes artérias, associada à comunicação interventricular e obstrução de via de saída do ventrículo esquerdo Lecompte procedure for correction of the transposition of the great arteries associated with ventricular septal defect and left ventricle outflow tract obstruction

    Directory of Open Access Journals (Sweden)

    Miguel Angel Maluf

    2006-12-01

    Full Text Available OBJETIVO: Avaliar o procedimento de Lecompte para a correção da transposição das grandes artérias associada à comunicação interventricular e obstrução da via de saída do ventrículo esquerdo (TGA, CIV e OVSVE e apresentar os resultados no período pós-operatório intermediário e tardio. MÉTODO: Entre fevereiro de 1994 e julho de 2005, sete pacientes, com idade de 2 a 8 anos (mediana -M-: 3,0, portadores de TGA, CIV e OVSVE, foram submetidos a tratamento cirúrgico corretivo. Em seis casos, foi utilizado o procedimento de Lecompte. Esta técnica consiste na abordagem por ventriculotomia direita, ressecção ampla do septo conal e construção de um túnel ventricular conectando o ventrículo esquerdo à aorta; o caso restante apresentava obstrução da prótese valvulada implantada entre o ventrículo direito e a artéria pulmonar (VD-AP e falência do VD e foi submetido à conversão no procedimento de Lecompte. RESULTADOS: Os tempos de CEC variaram entre 105 e 194 min (M: 130 e os tempos de anoxia entre 65 e 90 min (M: 78. Houve um óbito no pós-operatório imediato devido a coagulopatia, seguido de insuficiência ventricular direita. Os seis pacientes sobreviventes receberam alta hospitalar no período de 5 a 30 dias (M: 11 e permaneceram em acompanhamento entre 12 a 144 meses (M: 73,6. CONCLUSÃO: O procedimento de Lecompte teve como vantagens: 1 - Indicação cirúrgica em pacientes com menor faixa etária; 2 - Baixa morbi-mortalidade; 3 - Expectativa de acompanhamento a longo prazo, sem reoperação; 4 - Possibilidade de converter o procedimento de Rastelli em Lecompte.OBJECTIVE: To evaluate the Lecompte procedure used for the correction of transposition of the great arteries (TGA associated with ventricular septal defect (VSD and left ventricle outflow tract obstruction (LVOTO and to present the intermediate and long-term results of the surgery. METHODS: Between February 1994 and July 2005, seven patients with ages between 2

  15. A faster 1.375-approximation algorithm for sorting by transpositions.

    Science.gov (United States)

    Cunha, Luís Felipe I; Kowada, Luis Antonio B; Hausen, Rodrigo de A; de Figueiredo, Celina M H

    2015-11-01

    Sorting by Transpositions is an NP-hard problem for which several polynomial-time approximation algorithms have been developed. Hartman and Shamir (2006) developed a 1.5-approximation [Formula: see text] algorithm, whose running time was improved to O(nlogn) by Feng and Zhu (2007) with a data structure they defined, the permutation tree. Elias and Hartman (2006) developed a 1.375-approximation O(n(2)) algorithm, and Firoz et al. (2011) claimed an improvement to the running time, from O(n(2)) to O(nlogn), by using the permutation tree. We provide counter-examples to the correctness of Firoz et al.'s strategy, showing that it is not possible to reach a component by sufficient extensions using the method proposed by them. In addition, we propose a 1.375-approximation algorithm, modifying Elias and Hartman's approach with the use of permutation trees and achieving O(nlogn) time.

  16. Development of quality metrics for ambulatory pediatric cardiology: Transposition of the great arteries after arterial switch operation.

    Science.gov (United States)

    Baker-Smith, Carissa M; Carlson, Karina; Ettedgui, Jose; Tsuda, Takeshi; Jayakumar, K Anitha; Park, Matthew; Tede, Nikola; Uzark, Karen; Fleishman, Craig; Connuck, David; Likes, Maggie; Penny, Daniel J

    2018-01-01

    To develop quality metrics (QMs) for the ambulatory care of patients with transposition of the great arteries following arterial switch operation (TGA/ASO). Under the auspices of the American College of Cardiology Adult Congenital and Pediatric Cardiology (ACPC) Steering committee, the TGA/ASO team generated candidate QMs related to TGA/ASO ambulatory care. Candidate QMs were submitted to the ACPC Steering Committee and were reviewed for validity and feasibility using individual expert panel member scoring according to the RAND-UCLA methodology. QMs were then made available for review by the entire ACC ACPC during an "open comment period." Final approval of each QM was provided by a vote of the ACC ACPC Council. Patients with TGA who had undergone an ASO were included. Patients with complex transposition were excluded. Twelve candidate QMs were generated. Seven metrics passed the RAND-UCLA process. Four passed the "open comment period" and were ultimately approved by the Council. These included: (1) at least 1 echocardiogram performed during the first year of life reporting on the function, aortic dimension, degree of neoaortic valve insufficiency, the patency of the systemic and pulmonary outflows, the patency of the branch pulmonary arteries and coronary arteries, (2) neurodevelopmental (ND) assessment after ASO; (3) lipid profile by age 11 years; and (4) documentation of a transition of care plan to an adult congenital heart disease (CHD) provider by 18 years of age. Application of the RAND-UCLA methodology and linkage of this methodology to the ACPC approval process led to successful generation of 4 QMs relevant to the care of TGA/ASO pediatric patients in the ambulatory setting. These metrics have now been incorporated into the ACPC Quality Network providing guidance for the care of TGA/ASO patients across 30 CHD centers. © 2017 Wiley Periodicals, Inc.

  17. The heart: Congenital disease

    International Nuclear Information System (INIS)

    Higgins, C.B.

    1987-01-01

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

  18. Successful surrogate pregnancy after ovarian transposition, pelvic irradiation and hysterectomy.

    Science.gov (United States)

    Zinger, Michael; Liu, James H; Husseinzadeh, Nader; Thomas, Michael A

    2004-07-01

    Treatment of cervical cancer is often effective but at the cost of the woman's fertility. Ovarian transposition with subsequent oocyte retrieval and surrogate pregnancy can enable these patients to become genetic parents. We present the third reported such case. A 22-year-old woman was diagnosed with bulky, stage IB cervical cancer. Following transposition of both ovaries to the upper abdomen, she underwent pelvic irradiation followed by total abdominal hysterectomy. Eleven years later she presented for assisted reproduction. Two oocytes were retrieved following ovarian stimulation and transcutaneous, abdominal oocyte retrieval. One embryo was transferred to the gestational surrogate, resulting in a single intrauterine pregnancy and successful delivery at term. These procedures can preservefertility while successfully treating cervical cancer.

  19. Aging and experience in the recognition of musical transpositions.

    Science.gov (United States)

    Halpern, A R; Bartlett, J C; Dowling, W J

    1995-09-01

    The authors examined the effects of age, musical experience, and characteristics of musical stimuli on a melodic short-term memory task in which participants had to recognize whether a tune was an exact transposition of another tune recently presented. Participants were musicians and nonmusicians between ages 18 and 30 or 60 and 80. In 4 experiments, the authors found that age and experience affected different aspects of the task, with experience becoming more influential when interference was provided during the task. Age and experience interacted only weakly, and neither age nor experience influenced the superiority of tonal over atonal materials. Recognition memory for the sequences did not reflect the same pattern of results as the transposition task. The implications of these results for theories of aging, experience, and music cognition are discussed.

  20. Different Points of View Concerning the Didactic Transposition

    Directory of Open Access Journals (Sweden)

    Késia Caroline Ramires Neves

    2011-10-01

    Full Text Available The present article treats the concept of Didactic Transposition, taking as reference the work of Yves Chevallard, La transposición didáctica: del saber sabio al saber enseñado (2005. We compared the adduction of the concept in several works, such as thesis, dissertations and articles, and discussed the multiple impressions concerning the process of didactic transposition. These papers show that the conceptualizations are not well defined, entailing dubiousness and discussions. Some differences accrue from different areas of science, distinct of mathematics, others are inherent on the original ideas in Chevallard (2005, paper that served as bibliographical reference for the majority of the studied works.

  1. Congenital Hydrocephalus.

    Science.gov (United States)

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Congenital diplopodia

    International Nuclear Information System (INIS)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam

    2003-01-01

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

  3. Congenital toxoplasmosis.

    Science.gov (United States)

    Kieffer, François; Wallon, Martine

    2013-01-01

    Congenital toxoplasmosis results from the transplacental transmission of the parasite Toxoplasma gondii after a maternal infection acquired in pregnancy. Prevalence of congenital infection ranges from 0.1 to 0.3 per 1000 live births. The maternal-fetal transmission rate increases with gestational age at maternal seroconversion, from less than 15% at 13 weeks of gestation to over 70% at 36 weeks. Conversely, the later the maternal infection, the lower the risk of symptomatic congenital infection (infections acquired during the third trimester are most often asymptomatic at birth). Prenatal diagnosis is currently performed by PCR analysis in amniotic fluid. Antenatal management and treatment vary considerably among countries. In some European countries, maternal infections are detected through serological screening allowing a prompt treatment with spiramycin, which is expected to reduce the risk of vertical transmission. If PCR analysis in amniotic fluid is positive or if maternal infection was acquired in the third trimester of pregnancy, a combination with pyrimethamine and sulphonamide is given until delivery. Benefits of antenatal treatments remain controversial. Infected newborns are prescribed pyrimethamine and sulphonamide for 12 months. Despite antenatal and postnatal treatment, chorioretinitis can occur at any age (prevalence>20% at 10 years of age): long-term ophthalmological follow-up remains necessary. Copyright © 2013 Elsevier B.V. All rights reserved.

  4. A Modified Technique of Basilic Vein Transposition for Haemodialysis

    International Nuclear Information System (INIS)

    Chaudhary, F. A.; Parvez, Z.

    2014-01-01

    Objective: To modify the technique of basilic vein transposition for vascular accesss for haemodialysis aiming at better maturation rate, longer survival of fistula and lesser complications. Study Design: Case series. Place and Duration of Study: Shaikh Zayed Hospital and Omer Hospital, Lahore, from February 2008 to July 2011. Methodology: Patients referred for basilic vein transposition for haemodialysis vascular access were prospectively enrolled. The surgical technique included small tracking incisions, an extra 3 - 4 cm of vein length harvesting to avoid tension in the vein in its new course, an oval arteriotomy and a smooth curved pathway, away from vein harvesting incision to avoid entrapment of vein in the scar. Maturation rate, fistula survival and other complications were noted. Results: There was no immediate failure in 51 patients. The complications during follow-up period were infection and thrombosis, bleeding and non-development of basilic vein in 2 patients each; and false aneurysm formation in one. Four patients died during follow-up period. The maturation time was 4.9 A +- 1.1 weeks. The early patency rate was 92.2%, same at 6 months and 90.7% at 12 months. Conclusion: Arteriovenous fistula constructed with modified technique of basilic vein transposition is an acceptable and valid option of vascular access for haemodialysis. (author)

  5. Insertion sequence transposition determines imipenem resistance in Acinetobacter baumannii.

    Science.gov (United States)

    Kuo, Han-Yueh; Chang, Kai-Chih; Liu, Chih-Chin; Tang, Chuan Yi; Peng, Jhih-Hua; Lu, Chia-Wei; Tu, Chi-Chao; Liou, Ming-Li

    2014-10-01

    This study employed genomewide analysis to investigate potential resistance mechanisms in Acinetobacter baumannii following imipenem exposure. Imipenem-selected mutants were generated from the imipenem-susceptible strain ATCC 17978 by multistep selection resistance. Antibiotic susceptibilities were examined, and the selected mutants originated from the ATCC 17978 strain were confirmed by pulsed-field gel electrophoresis. The genomic sequence of a resistant mutant was analyzed using a next-generation sequencing platform, and genetic recombination was further confirmed by PCR. The result showed that phenotypic resistance was observed with carbapenem upon exposure to various concentrations of imipenem. Genomewide analysis showed that ISAba1 transposition was initiated by imipenem exposure at concentrations up to 0.5 mg/L. Transposition of ISAba1 upstream of blaOXA-95 was detected in all the selected mutants. The expression of blaOXA-95 was further analyzed by quantitative PCR, and the results demonstrated that a 200-fold increase in gene expression was required for resistance to imipenem. This study concluded that imipenem exposure at a concentration of 0.5 mg/L mediated the transposition of ISAba1 upstream of the blaOXA-95 gene and resulted in the overexpression of blaOXA-95 gene, which may play a major role in the resistance to imipenem in A. baumannii.

  6. Potential implications of the helical heart in congenital heart defects.

    Science.gov (United States)

    Corno, Antonio F; Kocica, Mladen J

    2007-01-01

    The anatomic and functional observations made by Francisco Torrent-Guasp, in particular his discovery of the helical ventricular myocardial band (HVMB), have challenged what has been taught to cardiologists and cardiac surgeons over centuries. A literature debate is ongoing, with interdependent articles and comments from supporters and critics. Adequate understanding of heart structure and function is obviously indispensable for the decision-making process in congenital heart defects. The HVMB described by Torrent-Guasp and the potential impact on the understanding and treatment of congenital heart defects has been analyzed in the following settings: embryology, ventriculo-arterial discordance (transposition of great arteries), Ebstein's anomaly, pulmonary valve regurgitation after repair of tetralogy of Fallot, Ross operation, and other congenital heart defects. The common structural spiral feature is only one of the elements responsible for the functional interaction of right and left ventricles, and understanding the form/function relationship in congenital heart defects is more difficult than for acquired heart disease because of the variety and complexity of congenital heart defects. Individuals involved in the care of patients with congenital heart defects have to be stimulated to consider further investigations and alternative surgical strategies.

  7. Considerations and concerting on the european directive transposition to the internal gas market

    International Nuclear Information System (INIS)

    Bricq, N.

    1999-10-01

    In the framework of the directive 98/30/CE transposition on the the gas internal market, a report has been asked by the First Ministry to define the new form of the gas utilities. The directive deals with the competition opening. The first part presents the gas market organization in France, today and after the transposition. The second part analyses the big stakes of this transposition. (A.L.B)

  8. Maxillary canine-first premolar bilateral transposition in a Class III patient: A case report.

    Science.gov (United States)

    Potrubacz, Maciej Iancu; Tepedino, Michele; Chimenti, Claudio

    2016-05-01

    Tooth transposition is a rare dental anomaly that often represents a challenge for the clinician. The case of a girl with skeletal Class III malocclusion and concomitant maxillary canine-first premolar bilateral transposition, followed from 7 to 17 years of age, is presented. After a first phase of treatment aimed at resolving the Class III malocclusion, the transposition was maintained and the case finalized with a multibracket appliance.

  9. Patient with congenital heart malformation and infective endocarditis

    Directory of Open Access Journals (Sweden)

    Ramírez Ortiz, Zoraida

    2014-10-01

    Full Text Available We present the case of a 17 year-old-man, with no remarkable past medical history, who had a one month history of worsening functional class, fatigability and dyspnea, in addition to fever and systemic inflammatory response syndrome (SIRS; a de-novo congenital heart malformation, situs inversus type, with levocardia and a ventricular septal defect (VSD associated with transposition of great vessels were documented. During hospitalization he received several antibiotic treatments without microbiological isolation or identification of the cause of hemodynamic decompensation. An Aspergillus endocarditis with emboli to different organs was identified in the post-mortem examination.

  10. Congenital syphilis

    International Nuclear Information System (INIS)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don

    1983-01-01

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

  11. Imaging diagnosis of congenital heart disease with single coronary artery

    International Nuclear Information System (INIS)

    Zhu Ming; Li Yuhua; Zhong Yumin; Sun Aimin

    2003-01-01

    Objective: To report 56 cases of congenital heart disease with congenital single coronary artery and to evaluate the imaging diagnostic techniques. Methods: All 56 patients with congenital single coronary artery underwent angiocardiography. Contrast enhancement magnetic resonance angiography (CE MRA) was performed in 4 cases. 48 cases were confirmed by operation. Results: In these 56 cases, single left coronary artery was found in 44 cases and single right coronary artery was found in 12. Conclusion: Congenital heart disease with congenital single coronary artery is not rare and correct diagnosis is very important for surgery

  12. Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries.

    Science.gov (United States)

    Zahid, Maliha; Bais, Abha; Tian, Xin; Devine, William; Lee, Dong Ming; Yau, Cyrus; Sonnenberg, Daniel; Beerman, Lee; Khalifa, Omar; Lo, Cecilia W

    2018-01-01

    Our prior work on congenital heart disease (CHD) with heterotaxy, a birth defect involving randomized left-right patterning, has shown an association of a high prevalence of airway ciliary dysfunction (CD; 18/43 or 42%) with increased respiratory symptoms. Furthermore, heterotaxy patients with ciliary dysfunction were shown to have more postsurgical pulmonary morbidities. These findings are likely a reflection of the common role of motile cilia in both airway clearance and left-right patterning. As CHD comprising transposition of the great arteries (TGA) is commonly thought to involve disturbance of left-right patterning, especially L-TGA with left-right ventricular inversion, we hypothesize CHD patients with transposition of great arteries (TGA) may have high prevalence of airway CD with increased respiratory symptoms. We recruited 75 CHD patients with isolated TGA, 28% L and 72% D-TGA. Patients were assessed using two tests typically used for evaluating airway ciliary dysfunction in patients with primary ciliary dyskinesia (PCD), a recessive sinopulmonary disease caused by respiratory ciliary dysfunction. This entailed the measurement of nasal nitric oxide (nNO), which is typically low with PCD. We also obtained nasal scrapes and conducted videomicroscopy to assess respiratory ciliary motion (CM). We observed low nNO in 29% of the patients, and abnormal CM in 57%, with 22% showing both low nNO and abnormal CM. No difference was observed for the prevalence of either low nNO or abnormal ciliary motion between patients with D vs. L-TGA. Respiratory symptoms were increased with abnormal CM, but not low nNO. Sequencing analysis showed no compound heterozygous or homozygous mutations in 39 genes known to cause PCD, nor in CFTR, gene causing cystic fibrosis. As both are recessive disorders, these results indicate TGA patients with ciliary dysfunction do not have PCD or cystic fibrosis (which can cause low nNO or abnormal ciliary motion). TGA patients have high

  13. 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.

  14. Cognitive and attentional functioning in adolescents and young adults with Tetralogy of Fallot and d-transposition of the great arteries.

    Science.gov (United States)

    Murphy, Lexa K; Compas, Bruce E; Reeslund, Kristen L; Gindville, Melissa C; Mah, May Ling; Markham, Larry W; Jordan, Lori C

    2017-01-01

    The objective of this study is to investigate cognitive and attentional function in adolescents and young adults with operated congenital heart disease. Previous research has indicated that children with congenital heart disease have deficits in broad areas of cognitive function. However, less attention has been given to survivors as they grow into adolescence and early adulthood. The participants were 18 non-syndromic adolescents and young adults with tetralogy of Fallot and d-transposition of the great arteries that required cardiac surgery before the age of 5 years, and 18 healthy, unaffected siblings (11-22 years of age for both groups). Cases with congenital heart disease and their siblings were administered Wechsler Intelligence scales and reported attention problems using the Achenbach System of Empirically Based Assessments. Cases were compared to both healthy siblings and established norms. Cases performed significantly lower than siblings on full scale IQ and processing speed, and significantly lower than norms on perceptual reasoning. Cases also reported more attention problems compared to both siblings and norms. Effect sizes varied with medium-to-large effects for processing speed, perceptual reasoning, working memory, and attention problems. Findings suggest that neurocognitive function may continue to be affected for congenital heart disease survivors in adolescence and young adulthood, and that comparisons to established norms may underestimate neurocognitive vulnerabilities.

  15. Clinical outcome in MPFL reconstruction with and without tuberositas transposition.

    Science.gov (United States)

    Mulliez, A; Lambrecht, D; Verbruggen, D; Van Der Straeten, C; Verdonk, P; Victor, J

    2017-09-01

    There are several surgical options for recurrent patella dislocations. As the reconstruction of the medial patellofemoral ligament (MPFL) has been proven to restore stability, it has become more accepted. Aim of this study was to investigate the clinical outcome after MPFL reconstruction as an isolated procedure or in association with a transposition of the tibial tubercle (in case of patella alta or an excessive TT-TG) in a large prospective cohort study. Additionally, the effect on patellar height was analysed radiographically using the Caton-Deschamps index. In a large prospective cohort study of 129 knees in 124 patients (81 females, 48 males, mean age 22.8 ± 7.7 years), 91 knees received primary MPFL reconstruction (group 1) and 38 were a combination with a transposition of the tibial tubercle (group 2). The clinical follow-up was evaluated using KOOS and Kujala scores preoperatively and 1 year postoperatively. Patient satisfaction, complications and revision surgery were recorded. Overall, Kujala improved significantly from 53.5 (SD 22.7) preoperatively to 74.7 (SD 20.5) postoperatively (p < 0.01). All KOOS subdomains improved significantly (p < 0.01). No significant difference for Kujala score between groups was noticed. Revision rate was (5/129) 3.9 %. Reconstruction was supplemented with a transfer of the tibial tuberosity in (38/129) 29.4 % of the cases and shows a comparable outcome. MPFL reconstruction is a viable treatment option for episodic patellar dislocation. A concomitant tuberositas transposition is useful in selected patients. I.

  16. 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.

  17. Congenital amusia.

    Science.gov (United States)

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. Copyright © 2013 Elsevier B.V. All rights reserved.

  18. The politics of compliance : explaining the transposition of EC directives in the Netherlands

    NARCIS (Netherlands)

    Mastenbroek, Ellen

    2007-01-01

    The EU suffers from an implementation deficit. Member states often do not comply with EU policies, which in turn hampers the process of European integration. This book documents the problem with the timely transposition of EU directives. It explores the size and the causes of the transposition

  19. Congenital hypopituitarism and renal failure

    Directory of Open Access Journals (Sweden)

    Gaurav Atreja

    2011-01-01

    Full Text Available Congenital hypopituitarism is potentially fatal in the newborn period but treatable if the diagnosis is made early. We report a neonate who presented with hypothermia and severe hypoglycemia. He also had undescended testis and micropenis. Initial screening revealed panhypopituitarism, which was corrected promptly. He developed renal failure due to initial cardiovascular compromise related to hypotension but recovered quickly with standard management. Magnetic resonance imaging revealed absent stalk of anterior pituitary.

  20. Infraorbital nerve transposition to expand the endoscopic transnasal maxillectomy.

    Science.gov (United States)

    Salzano, Giovanni; Turri-Zanoni, Mario; Karligkiotis, Apostolos; Zocchi, Jacopo; Dell'Aversana Orabona, Giovanni; Califano, Luigi; Battaglia, Paolo; Castelnuovo, Paolo

    2017-02-01

    The infraorbital nerve (ION) is a terminal branch of the maxillary nerve (V2) providing sensory innervation to the malar skin. It is sometimes necessary to sacrifice the ION and its branches to obtain adequate maxillary sinus exposure for radical resection of sinonasal tumors. Consequently, patients suffer temporary or permanent paresthesia, hypoestesthia, and neuralgia of the face. We describe an innovative technique used for preservation of the ION while removing the anterior, superior, and lateral walls of the maxillary sinus through a medial endoscopic transnasal maxillectomy. All patients who underwent transnasal endoscopic maxillectomy with ION transposition in our institute were retrospectively reviewed. Two patients were identified who had been treated for sinonasal cancers using this approach. No major complications were observed. Transient loss of ION function was observed with complete recovery of skin sensory perception within 6 months of surgery. One patient referred to a mild permanent anesthesia of the upper incisors. No diplopia or enophthalmos were encountered in any of the patients. The ION transposition is useful for selected cases of benign and malignant sinonasal tumors that do not infiltrate the ION itself but involve the surrounding portion of the maxillary sinus. Anatomic preservation of the ION seems to be beneficial to the postoperative quality of life of such patients. © 2016 ARS-AAOA, LLC.

  1. Aorto-Right Ventricular Tunnel in Transposition of the Great Arteries

    Directory of Open Access Journals (Sweden)

    Antonio F. Corno

    2018-02-01

    Full Text Available Aorto-ventricular tunnel is an extremely rare congenital heart defect, consisting of failure of attachment of an aortic leaflet along the semilunar hinge. In all published reports the leaflet involved was either the right coronary leaflet, most frequently, or the left coronary leaflet, in most of the cases opening toward the left ventricle, with only one-eighth of the reported cases communicating with the right ventricle. Treatment of the aorto-ventricular tunnel has been anecdotally reported by interventional closure with a device and more frequently with surgical approach, either as an isolated malformation or as associated lesions. To the best of our knowledge, the presence of an aorto-ventricular tunnel of the non-adjacent aortic leaflet in transposition of the great arteries has never been reported. We have observed an aorto-ventricular tunnel involving the non-adjacent leaflet of the aortic root, which after arterial switch became the pulmonary root. The patient presented 18 years after the arterial switch with progressive dilatation of the right ventricle due to severe degree of pulmonary valve regurgitation, confirmed by echocardiography and cardiac MRI. Indication for surgery was given with the plan for a pulmonary valve implantation. Because of the intra-operative finding of disconnection of the anterior leaflet of the pulmonary valve (former aortic valve along the semilunar hinge, the surgical plan was modified and the anterior leaflet was attached to the valve annulus, with subsequent plasty in correspondence with the right and left commissurae to reduce the size of the dilated annulus to normal diameter. The post-operative course was uneventful, with extubation after few hours and discharge 4 days after surgery, with echocardiography showing trivial degree of pulmonary valve regurgitation. The patient remains in good conditions 6 months after surgery.

  2. [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.

  3. Congenital Malformations Associated with Maternal Diabetes

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2005-03-01

    Full Text Available Maternal diabetes has toxic effects on the development of the embryo and significantly increases the risk of congenital malformations in humans. The incidence of fetal structural defects caused by maternal pregestational diabetes is three- to fourfold higher than that caused by non-diabetic pregnancy. The congenital malformations associated with diabetic pregnancy arise before the seventh gestational week. Diabetic embryopathy can affect any developing organ system, including the central nervous system (CNS (anencephaly, spina bifida, microcephaly, and holoprosencephaly, skeletal system (caudal regression syndrome, sacral agenesis, and limb defects, renal system (renal agenesis, hydronephrosis, and ureteric abnormalities, cardiovascular system (transposition of the great vessels, ventricular septal defects, atrial septal defects, coarctation of the aorta, cardiomyopathy, and single umbilical artery, and gastrointestinal system (duodenal atresia, anorectal atresia, and small left colon syndrome. Pregnant women with fetuses with diabetic embryopathy may have chronic or unrecognized hyperglycemia and elevated levels of glycerated hemoglobin. This review emphasizes the necessity to consider hyperglycemia-induced teratogenesis during genetic counseling of parents with prenatally detected fetal malformations. Successful preconception counseling for women with diabetes mellitus and metabolic control will reduce birth defects and maternal morbidity.

  4. Usefulness of electrocardiography-gated dual-source computed tomography for evaluating morphological features of the ventricles in children with complex congenital heart defects

    International Nuclear Information System (INIS)

    Nakagawa, Motoo; Hara, Masaki; Sakurai, Keita; Asano, Miki; Shibamoto, Yuta; Ohashi, Kazuya

    2011-01-01

    Improved time resolution using dual-source computed tomography (DSCT) enabled adaptation of electrocardiography (ECG)-gated cardiac CT for children with a high heart rate. In this study, we evaluated the ability of ECG-gated DSCT (ECG-DSCT) to depict the morphological ventricular features in patients with congenital heart disease (CHD). Between August 2006 and March 2010, a total of 66 patients with CHD (aged 1 day to 9 years, median 11 months) were analyzed using ECG-DSCT. The type of anomaly was ventricular septal defect (VSD) in 32 (malaligned type in 20, perimembranous type in 7, supracristal type in 3, muscular type in 2), single ventricle (SV) in 11, and corrected transposition of the great arteries (cTGA) in 3. All patients underwent ECG-DSCT and ultrasonography (US). We evaluated the accuracy of diagnosing the type of VSD. For the cases with SV and cTGA, we evaluated the ability to depict anatomical ventricular features. In all 32 cases of VSD, DSCT could confirm the VSD defects, and the findings were identical to those obtained by US. Anatomical configurations of the SV and cTGA were correctly diagnosed, similar to that on US. Our study suggests that ECG-DSCT can clearly depict the configuration of ventricles. (author)

  5. As the transposition goes on in France: new rules

    International Nuclear Information System (INIS)

    Kiffel, T.

    2002-01-01

    European directive transposition in radioprotection (96-29 EURATOM for workers and 97-43 for patients) in association with the reformation of radioprotection structures in France will change drastically the situation of radioprotection. New laws (L.1333-1 and L.1333-11) enforce justification, optimisation for the medical exposures and formation of all professionals using radiation. A new ministerial administration (Direction Generale de la Surete Nucleaire et de la Radioprotection) and a new technical operator (Institut de Radioprotection et de Surete Nucleaire) will also change radioprotection. In the new system, radioprotection of the patient becomes as important as for the workers... It's new and will change comportment of professionals. The new rules will probably change the mentality at long term in term of guidelines. Even if radioprotection becomes a very important matter, it is still the time to say that radiation is necessary for medical use in 21. century as well as in the 20. century. (author)

  6. Transposition of the gas directive in French law

    International Nuclear Information System (INIS)

    Anon.

    2002-01-01

    On September 25, 2002, the French government adopted the project of law relative to the energy markets. This project of law takes up the essential part of the measures proposed by the directive no 98/30/CE of the European Union from June 22, 1998, about the 'common rules of the internal natural gas market'. This paper makes a brief comment of the version of this project adopted by the senate. It presents also the position of the French gas association (AFG) about this transposition, its action during the first phase of the parliamentary debate, and what will be AFG's role after the enforcement of this law. Finally, a testimony of the Swiss society of gas and waters industry (SSIGE) about the opening of the natural gas market is given in conclusion. (J.S.)

  7. The transposition of musical knowledge in intellectual education

    Directory of Open Access Journals (Sweden)

    Carla Cuomo

    2014-05-01

    Full Text Available The construction of European citizenship in the era of complexity requires that the transmission of knowledge be directed towards an intellectual formation, that is, the ‘shaping’ of a critical mind, one that is able to problematize, and hence to discern. This can be achieved by educating towards comprehension. In facing this issue, musicologists ask themselves ‘what to teach’ and ‘how to teach’ it, in order to prepare students to the comprehension of music – these questions form the basis of music didactics as the science of ‘transposing’ savoir savant (learned knowledge into savoir enseigné (didactic knowledge. The paper proposes a model appraoch to music comprehension, through the didactic transposition of a piece by Claude Debussy, La cathédrale engloutie. The example is based on a strategy developed by musicological and methodological-didactic research, and focuses on the continuity among listening, music performance, and music history.

  8. Congenital platelet function defects

    Science.gov (United States)

    ... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

  9. 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 © ...

  10. Congenital heart disease

    Science.gov (United States)

    Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

  11. Increased Ac excision (iae): Arabidopsis thaliana mutations affecting Ac transposition

    International Nuclear Information System (INIS)

    Jarvis, P.; Belzile, F.; Page, T.; Dean, C.

    1997-01-01

    The maize transposable element Ac is highly active in the heterologous hosts tobacco and tomato, but shows very much reduced levels of activity in Arabidopsis. A mutagenesis experiment was undertaken with the aim of identifying Arabidopsis host factors responsible for the observed low levels of Ac activity. Seed from a line carrying a single copy of the Ac element inserted into the streptomycin phosphotransferase (SPT) reporter fusion, and which displayed typically low levels of Ac activity, were mutagenized using gamma rays. Nineteen mutants displaying high levels of somatic Ac activity, as judged by their highly variegated phenotypes, were isolated after screening the M2 generation on streptomycin-containing medium. The mutations fall into two complementation groups, iae1 and iae2, are unlinked to the SPT::Ac locus and segregate in a Mendelian fashion. The iae1 mutation is recessive and the iae2 mutation is semi-dominant. The iae1 and iae2 mutants show 550- and 70-fold increases, respectively, in the average number of Ac excision sectors per cotyledon. The IAE1 locus maps to chromosome 2, whereas the SPT::Ac reporter maps to chromosome 3. A molecular study of Ac activity in the iae1 mutant confirmed the very high levels of Ac excision predicted using the phenotypic assay, but revealed only low levels of Ac re-insertion. Analyses of germinal transposition in the iae1 mutant demonstrated an average germinal excision frequency of 3% and a frequency of independent Ac re-insertions following germinal excision of 22%. The iae mutants represents a possible means of improving the efficiency of Ac/Ds transposon tagging systems in Arabidopsis, and will enable the dissection of host involvement in Ac transposition and the mechanisms employed for controlling transposable element activity

  12. Congenital Intrahepatic Portosystemic Shunts

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

    2008-12-15

    Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

  13. Extra-cardiac manifestations of adult congenital heart disease.

    Science.gov (United States)

    Gaeta, Stephen A; Ward, Cary; Krasuski, Richard A

    2016-10-01

    Advancement in correction or palliation of congenital cardiac lesions has greatly improved the lifespan of congenital heart disease patients, resulting in a rapidly growing adult congenital heart disease (ACHD) population. As this group has increased in number and age, emerging science has highlighted the systemic nature of ACHD. Providers caring for these patients are tasked with long-term management of multiple neurologic, pulmonary, hepatic, renal, and endocrine manifestations that arise as syndromic associations with congenital heart defects or as sequelae of primary structural or hemodynamic abnormalities. In this review, we outline the current understanding and recent research into these extra-cardiac manifestations. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Congenital ankyloblepharon in a leopard gecko (Eublepharis macularius).

    Science.gov (United States)

    Rival, Franck

    2015-01-01

    A 6-month-old leopard gecko with unilateral partially fused eyelids since birth was presented for examination. A diagnosis of congenital ankyloblepharon was made and surgical correction was performed successfully. © 2014 American College of Veterinary Ophthalmologists.

  15. Congenitally missing mandibular second premolars: clinical options.

    Science.gov (United States)

    Kokich, Vincent G; Kokich, Vincent O

    2006-10-01

    Congenital absence of mandibular second premolars affects many orthodontic patients. The orthodontist must make the proper decision at the appropriate time regarding management of the edentulous space. These spaces can be closed or left open. If the space will be left open for an eventual restoration, the keys during orthodontic treatment are to create the correct amount of space and to leave the alveolar ridge in an ideal condition for a future restoration. If the space will be closed, the clinician must avoid any detrimental alterations to the occlusion and the facial profile. Some early decisions that the orthodontist makes for a patient whose mandibular second premolars are congenitally missing will affect his or her dental health for a lifetime. Therefore, the correct decision must be made at the appropriate time. In this article, we present and discuss various treatment alternatives for managing orthodontic patients with at least 1 congenitally missing mandibular second premolar.

  16. What's New in Congenital Scoliosis?

    Science.gov (United States)

    Pahys, Joshua M; Guille, James T

    2018-03-01

    Congenital scoliosis is a failure of vertebral formation, segmentation, or a combination of the 2 arising from abnormal vertebral development during weeks 4 to 6 of gestation. The associated spinal deformity can be of varying severity and result in a stable or progressive deformity based on the type and location of the anomalous vertebra(e). Bracing for congenital scoliosis is rarely indicated, while recent reports have demonstrated the utility of serial derotational casting for longer curves with multiple anomalous vertebrae as an effective "time buying strategy" to delay the need for surgery. Earlier hemivertebra excision and short-segment posterior spinal fusion have been advocated to prevent future curve progression of the deformity and/or the development of large compensatory curves. It has been shown in recent long-term follow-up studies that growth rates of the vertebral body and spinal canal are not as dramatically affected by pedicle screw instrumentation at a young age as once thought. Growth friendly surgery with either spine-based or rib-based anchors has demonstrated good results with curve correction while maintaining spinal growth. Rib-based anchors are typically more commonly indicated in the setting of chest wall abnormalities and/or when spinal anatomy precludes placement of spinal instrumentation. Recently, magnetically controlled growing rods have shown promising results in several studies that include a small subset of congenital scoliosis cases. A literature search was performed to identify existing studies related to the treatment of congenital scoliosis published from January 1, 2005 to June 1, 2016. Databases included PubMed, Medline, and the Cochrane Library. The search was limited to English articles and yielded 36 papers. This project was initiated by the Pediatric Orthopaedic Society of North America Publications Committee and was reviewed and approved by the Pediatric Orthopaedic Society of North America Presidential Line. A total of

  17. Spectrum Of Congenital Heart Disease In Full Term Neonates.

    Science.gov (United States)

    Bibi, Saima; Hussain Gilani, Syed Yasir; Bibi, Shawana

    2018-01-01

    Congenital heart disease is a significant problem world over especially in neonates. Early diagnosis and prompt interventions in neonatal period precludes the mortality associated with this disorder. The objective of this study was to highlight the diversity of congenital cardiac defects in our region so that appropriate interventions are devised to minimize significant morbidity and mortality associated with this disorder. This descriptive cross-sectional study was conducted at the Neonatology Unit of Department of Paediatrics, Ayub Teaching Hospital from January 2015 to December 2016. Approval of ethical committee was taken. All fullterm neonates of either gender who presented in department of neonatology including those delivered in hospital or received from other sources (private settings, home deliveries), diagnosed as having congenital heart disease on echocardiography were included in the study. Preterm neonates of either gender were excluded from the study. Patient characteristics were recorded in a designed proforma. Data was entered in SPSS version 20 and analysed. A total of 89 neonates were included in the study. Mean age of presentation was 6.34±7.058 days and range of 1-28 days. There was a male preponderance with 57 (64%) male patients as compared to 32 (36%) female patients. Ventricular septal defect (VSD) was the commonest cardiac lesion being present in 34 (38.2%) patients. Other defects included complex congenital heart disease in 8 (9%), atrial septal defect (ASD) and transposition of great arteries (TGA) in 7 (7.9%) each, atrioventricular septal defect (AVSD) in 6 (6.7%) and Fallots's tetralogy (TOF) and hypoplastic left heart syndrome in 5 (5.6%) each.. Congenital heart disease is a problem of profound importance. It constitutes approximately one third of the total major congenital malformations. There is a diversity of cardiac lesions in our region that warrant early and prompt interventions so that the disease is recognized and treated at

  18. Maxillary canine-first premolar transposition in the permanent dentition: treatment considerations and a case report.

    LENUS (Irish Health Repository)

    Synodinos, Philippos N

    2010-12-01

    Transposition is defined as the interchange of position between two adjacent teeth within the same quadrant of the dental arch. Permanent maxillary canine-premolar transposition is the most commonly observed transposition in the human dentition. Its prevalence is relatively low and its aetiology remains unclear, although it has been associated with genetic factors. It may also be related to a combination of localised factors such as malformation of adjacent teeth, tooth agenesis, retention of the deciduous canine and a history of local trauma. Treatment is selected on an individual case basis after thoroughly considering the overall facial and dental characteristics, duration of treatment, cost, patient preference and the orthodontist\\'s experience. This article provides a case report of maxillary canine transposition in the permanent dentition, successfully managed with orthodontic treatment.

  19. Effect of lateral release and tibial tuberosity transposition on the patellar tilt analyzed by MRI

    International Nuclear Information System (INIS)

    Koskinen, S.; Kormano, M.; Kujala, U.M.; Research Institute for Sports and Exercise Medicine, Helsinki; City Hospital, Turku

    1990-01-01

    The preliminary results are presented from studies in which MRI techniques are used to analyze the effect of lateral release and tibial tuberosity transposition procedures on the patellofemoral relationships. (author). 4 refs.; 1 fig.; 1 tab

  20. Evaluation of congenital heart disease by magnetic resonance imaging

    International Nuclear Information System (INIS)

    Roos, A. de; Roest, A.A.W.

    2000-01-01

    Magnetic resonance imaging has proven to be useful in the assessment of patients with complex congenital heart disease and in the post-surgical follow-up of patients with corrected congenital heart disease. A thorough understanding of the congenital cardiac malformations that can be encountered is needed and the use of the sequential segmental analysis helps to standardize the evaluation and diagnosis of (complex) congenital heart disease. After surgical correction of congenital heart defects, patients must be followed over extended periods of time, because morphological and functional abnormalities may still be present or may develop. The use of echocardiography may be hampered in these patients as scar tissue and thorax deformities limit the acoustic window. Magnetic resonance imaging has proven to be advantageous in the follow-up of these post-surgical patients and with the use of several different techniques the morphological as well as functional abnormalities can be evaluated and followed over time. (orig.)

  1. Subaortic Stenosis Following Anatomic Correction for Transposition of the Great Arteries

    OpenAIRE

    Rebelo, M; Trigo, C; Paixão, A; Kaku, S

    2004-01-01

    Os autores descrevem o caso clínico de uma criança do sexo masculino, com 12 anos de idade, com diagnóstico pós-natal de transposição das grandes artérias com comunicação interventricular, submetida a switch arterial e encerramento da comunicação interventricular. Durante o seguimento pós-operatório detectou-se um obstáculo entre o ventrículo esquerdo e a aorta ascendente que foi, inicialmente, de grau ligeiro. No último ano começou a referir sintomatologia (c...

  2. Symmetric Stream Cipher using Triple Transposition Key Method and Base64 Algorithm for Security Improvement

    Science.gov (United States)

    Nurdiyanto, Heri; Rahim, Robbi; Wulan, Nur

    2017-12-01

    Symmetric type cryptography algorithm is known many weaknesses in encryption process compared with asymmetric type algorithm, symmetric stream cipher are algorithm that works on XOR process between plaintext and key, to improve the security of symmetric stream cipher algorithm done improvisation by using Triple Transposition Key which developed from Transposition Cipher and also use Base64 algorithm for encryption ending process, and from experiment the ciphertext that produced good enough and very random.

  3. Internal limiting membrane flap transposition for surgical repair of macular holes in primary surgery and in persistent macular holes.

    Science.gov (United States)

    Leisser, Christoph; Hirnschall, Nino; Döller, Birgit; Varsits, Ralph; Ullrich, Marlies; Kefer, Katharina; Findl, Oliver

    2018-03-01

    Classical or temporal internal limiting membrane (ILM) flap transposition with air or gas tamponade are current trends with the potential to improve surgical results, especially in cases with large macular holes. A prospective case series included patients with idiopathic macular holes or persistent macular holes after 23-G pars plana vitrectomy (PPV) and ILM peeling with gas tamponade. In all patients, 23-G PPV and ILM peeling with ILM flap transposition with gas tamponade and postoperative face-down position was performed. In 7 of 9 eyes, temporal ILM flap transposition combined with pedicle ILM flap could be successfully performed and macular holes were closed in all eyes after surgery. The remaining 2 eyes were converted to pedicle ILM flap transposition with macular hole closure after surgery. Three eyes were scheduled as pedicle ILM flap transposition due to previous ILM peeling. In 2 of these eyes, the macular hole could be closed with pedicle ILM flap transposition. In 3 eyes, free ILM flap transposition was performed and in 2 of these eyes macular hole could be closed after surgery, whereas in 1 eye a second surgery, performed as pedicle ILM flap transposition, was performed and led to successful macular hole closure. Use of ILM flaps in surgical repair of macular hole surgery is a new option of treatment with excellent results independent of the diameter of macular holes. For patients with persistent macular holes, pedicle ILM flap transposition or free ILM flap transposition are surgical options.

  4. Survival and health in liveborn infants with transposition of great arteries--a population-based study.

    Science.gov (United States)

    Garne, Ester; Loane, Maria A; Nelen, Vera; Bakker, Marian K; Gener, Blanca; Abramsky, Lenore; Addor, Marie-Claude; Queisser-Luft, Annette

    2007-01-01

    To describe treatment, survival, and morbidity for liveborn infants with isolated transposition of great arteries (TGA). Population-based data from 7 European registries of congenital malformations (EUROCAT). Ninety-seven infants were diagnosed with isolated TGA and livebirth prevalence was 2.0 per 10,000 livebirths. The majority of infants were treated with prostaglandins (83%) and 57% had a catheter atrial septostomia performed. Arterial switch surgery was performed in 78 infants, other or unknown type of surgery was performed in 3 cases, and for 6 infants there was no information on surgery. At 1 year of age 69 infants were alive (71%) and 24 (25%) were dead (4 unknown). There were 10 deaths before surgery and 58% of all deaths took place during the first week. There was no statistically significant regional difference in mortality. Eight infants diagnosed prenatally all survived to 1 year and only 71% of infants diagnosed after birth survived (P = 0.08). Data on morbidity at 1 year of age was available for 57 infants. Fifty-one infants were reported with normal health and development. In this population-based study survival for liveborn infants with TGA is lower than in studies published from tertiary centers. Outcome for survivors at 1 year of age seems favorable.

  5. Cerebral oximetry monitoring in the management of severe hypoxaemia associated with transposition of the great arteries with balloon atrial septostomy.

    Science.gov (United States)

    Pérez Moreno, J C; Nájera Losada, D C; Sanabria Carretero, P; Paredes Lacave, Á; Benito Bartolomé, F

    2018-05-01

    Transposition of the great arteries (D-TGA) is one of the most common congenital heart diseases requiring neonatal surgical intervention. In the desperately ill neonate with TGA and the resultant hypoxaemia, acidemia, and congestive heart failure, improvement is often obtained with balloon atrial septostomy (BAS). Current methods employed to evaluate oxygen delivery and tissue consumption are frequently nonspecific. Near infrared spectroscopy (NIRS) allows a continuous non-invasive measurement of tissue oxygenation which reflects perfusion status in real time. Because little is known about the direct effect of BAS on the neonatal brain and on cerebral oxygenation, we measured the effectiveness of BAS in two patients with D-TGA using NIRS before and after BAS. We concluded BAS improves cerebral oxygen saturation in neonates with D-TGA. Copyright © 2017 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  6. Considerations and concerting on the european directive transposition to the internal gas market; Mission de reflexion et de concertation sur la transposition de la directive europeenne sur ''le marche interieur du gaz''

    Energy Technology Data Exchange (ETDEWEB)

    Bricq, N

    1999-10-01

    In the framework of the directive 98/30/CE transposition on the the gas internal market, a report has been asked by the First Ministry to define the new form of the gas utilities. The directive deals with the competition opening. The first part presents the gas market organization in France, today and after the transposition. The second part analyses the big stakes of this transposition. (A.L.B)

  7. Surgical transposition of the ovaries: imaging findings in 14 patients.

    Science.gov (United States)

    Kier, R; Chambers, S K

    1989-11-01

    Pelvic radiation therapy for cervical or vaginal cancer often leads to ovarian failure. To remove the ovaries from the radiation portal and preserve their function, they can be transposed to the lateral abdomen. Serial imaging studies in 14 patients who had undergone ovarian transposition (five bilateral, nine unilateral) were reviewed. Images obtained included 32 CT scans, 20 sonograms, and one MR image. Most transposed ovaries were located along the paracolic gutters near the iliac crests, creating an extrinsic mass effect on adjacent bowel. Detection of surgical clips on the ovary on CT scans allowed confident recognition of all 19 transposed ovaries. Cysts in the transposed ovaries, noted on most imaging studies, did not correlate with complications of pain or hormonal dysfunction. In one case, a large physiologic cyst in a transposed ovary distorted the cecum and was mistaken for a mucocele of the appendix. In another case, a large ovarian cyst was thought to be tumor recurrence or a lymphocele. These findings indicate that although the transposed ovaries can be recognized on CT scans by the surgical clips attached to the ovaries, the appearance of the ovary does not predict reliably the development of complications.

  8. Surgical transposition of the ovaries: Imaging findings in 14 patients

    International Nuclear Information System (INIS)

    Kier, R.; Chambers, S.K.

    1989-01-01

    Pelvic radiation therapy for cervical or vaginal cancer often leads to ovarian failure. To remove the ovaries from the radiation portal and preserve their function, they can be transposed to the lateral abdomen. Serial imaging studies in 14 patients who had undergone ovarian transposition (five bilateral, nine unilateral) were reviewed. Images obtained included 32 CT scans, 20 sonograms, and one MR image. Most transposed ovaries were located along the paracolic gutters near the iliac crests, creating an extrinsic mass effect on adjacent bowel. Detection of surgical clips on the ovary on CT scans allowed confident recognition of all 19 transposed ovaries. Cysts in the transposed ovaries, noted on most imaging studies, did not correlate with complications of pain or hormonal dysfunction. In one case, a large physiologic cyst in a transposed ovary distorted the cecum and was mistaken for a mucocele of the appendix. In another case, a large ovarian cyst was thought to be tumor recurrence or a lymphocele. These findings indicate that although the transposed ovaries can be recognized on CT scans by the surgical clips attached to the ovaries, the appearance of the ovary does not predict reliably the development of complications

  9. Three-dimensional-printed cardiac prototypes aid surgical decision-making and preoperative planning in selected cases of complex congenital heart diseases: Early experience and proof of concept in a resource-limited environment.

    Science.gov (United States)

    Kappanayil, Mahesh; Koneti, Nageshwara Rao; Kannan, Rajesh R; Kottayil, Brijesh P; Kumar, Krishna

    2017-01-01

    Three-dimensional. (3D) printing is an innovative manufacturing process that allows computer-assisted conversion of 3D imaging data into physical "printouts" Healthcare applications are currently in evolution. The objective of this study was to explore the feasibility and impact of using patient-specific 3D-printed cardiac prototypes derived from high-resolution medical imaging data (cardiac magnetic resonance imaging/computed tomography [MRI/CT]) on surgical decision-making and preoperative planning in selected cases of complex congenital heart diseases (CHDs). Five patients with complex CHD with previously unresolved management decisions were chosen. These included two patients with complex double-outlet right ventricle, two patients with criss-cross atrioventricular connections, and one patient with congenitally corrected transposition of great arteries with pulmonary atresia. Cardiac MRI was done for all patients, cardiac CT for one; specific surgical challenges were identified. Volumetric data were used to generate patient-specific 3D models. All cases were reviewed along with their 3D models, and the impact on surgical decision-making and preoperative planning was assessed. Accurate life-sized 3D cardiac prototypes were successfully created for all patients. The models enabled radically improved 3D understanding of anatomy, identification of specific technical challenges, and precise surgical planning. Augmentation of existing clinical and imaging data by 3D prototypes allowed successful execution of complex surgeries for all five patients, in accordance with the preoperative planning. 3D-printed cardiac prototypes can radically assist decision-making, planning, and safe execution of complex congenital heart surgery by improving understanding of 3D anatomy and allowing anticipation of technical challenges.

  10. Adults with Congenital Heart Defects

    Science.gov (United States)

    ... Ebstein's Anomaly l-Transposition of the Great Arteries Patent Ductus Arteriosus (PDA) Pulmonary Valve Stenosis and Regurgitation ... Sodium and Salt 3 Heart Attack Symptoms in Women 4 Warning Signs of a Heart Attack 5 ...

  11. Congenital orbital teratoma

    OpenAIRE

    Aiyub, Shereen; Chan, Weng Onn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

    2013-01-01

    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 p...

  12. Congenital anomalies in Primorsky region.

    Science.gov (United States)

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

    physical factors in urban and rural settlements, transport load, the presence of hazard-class companies, and observance of sanitary protection zones are of the most significance. The influence of a complex of ecological and hygienic factors on the incidence of pathology in adolescents was 60.0%. The contribution of sanitary and hygienic parameters was 44.5%, and natural and climatic ones - 15.5%. Chemical pollution and adverse physical factors in urban and rural areas, the level of air pollution, traffic loads, and condition of the soil influence the most. Assessing the results of the analysis one should note that the incidence of congenital abnormalities in both children and adolescents depends largely on the same modular sanitary factors, but with varying degrees of influence. At the same time the natural and climatic block of factors has almost the same degree of influence in these age groups. A significant increase of congenital anomalies in children and adolescents is registered in Primorsky Region, and the same is projected for the next 5 years.- The incidence of congenital anomalies in the region depends on bioclimatic zones and ecological situation. The highest level of pathology is observed in children in the coastal bioclimatic zone, and in adolescents, in the continental bioclimatic zone in areas with critical environmental situation.- Varied degree of influence on the level of congenital anomalies by a complex of sanitary and climatic factors is determined. The leading role (44.5-63.1%) belongs to sanitary and hygienic parameters of the life environment.- The results obtained make it possible to develop a set of organizational, diagnostic and treatment, and preventive measures for the correction of health of the population.

  13. Cytomegalovirus Congenital Cataract

    Directory of Open Access Journals (Sweden)

    Ridha Wahyutomo

    2011-06-01

    Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

  14. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

  15. ALGORITMA PARALEL ODD EVEN TRANSPOSITION PADA MODEL JARINGAN NON-LINIER

    Directory of Open Access Journals (Sweden)

    Ernastuti .

    2012-05-01

    Full Text Available Odd-even-transposition adalah suatu algoritma paralel yang merupakan pengembangan dari algoritma sekuensial “bubble sort”. Algoritma odd-even-transposition ini didesain khusus untuk model jaringan array linier (homogen. Untuk n elemen data, kompleksitas waktu dari algoritma bubble sort adalah O(n2, sedangkan pada odd-even-transposition yang bekerja di atas n prosesor adalah (n. Ada peningkatan kecepatan waktu pada kinerja algoritma paralel ini sebesar n kali dibanding algoritma sekuensialnya. Hypercube dimensi k adalah model jaringan non-linier (non-homogen terdiri dari n = 2k prosesor, di mana setiap prosesor berderajat k. Model jaringan Fibonacci cube dan extended Lucas cube masing-masing merupakan model subjaringan hypercube dengan jumlah prosesor < 2k prosesor dan maksimum derajat prosesornya adalah k. Pada paper ini, diperlihatkan bagaimana algoritma odd-even-transposition dapat dijalankan juga pada model jaringan komputer cluster non-linier hypercube, Fibonacci cube, dan extended Lucas cube dengan kompleksitas waktu O(n. Odd-even-transposition is a parallel algorithm which is the development of sequential algorithm “bubble sort”. Odd-even transposition algorithm is specially designed for linear array network model (homogeneous. For n data elements, the time complexity of bubble sort algorithm is O(n2, while the odd-even-transposition that works with n processor is (n. There in an increase in the speed of time on the performance of this parallel algorithms for n times than its sequential algorithm. K-dimensional hypercube is a non-linear network model (non-homogeneous consists of n = 2k processors, where each processor has k degree . Network model of Fibonacci cube and extended Lucas cube are the hypercube sub-network model with the number of processors

  16. 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.

  17. Cardiac magnetic resonance imaging in patients with congenital heart disease

    International Nuclear Information System (INIS)

    Kreitner, Karl-Friedrich; Sorantin, Erich

    2015-01-01

    The prevalence of congenital heart disease (CHD) is around 10 per 1000 live births in Germany. More than 90 % of these patients will survive into adulthood due to improvements in therapy. The classification of CHD may be based according to the anatomic structures involved, to the presence of an intracardiac shunt, the presence of a cyanosis and the intensity of therapy and complexity of the disease. Nearly half of all patients with CHD suffer from an intracardiac shunt, whereas complex cases such as patients with a tetralogy of Fallot or transposition of the great arteries are much more rare. Cardiac magnetic resonance imaging plays an important role in the work-up and follow-up of patients with CHD, especially after infancy and childhood. Depending on the abnormality in question, a multiparametric examination protocol is mandatory. Knowledge of operative procedures and findings of other imaging modalities help to optimize examination and time needed for it.

  18. Congenital heat disease

    International Nuclear Information System (INIS)

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations

  19. Key aspects congenital infection

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2014-01-01

    Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

  20. CONGENITAL EYELID EVERSION - A CASE REPORT WITH REVIEW OF LITERATURE

    Directory of Open Access Journals (Sweden)

    Chinmayee

    2015-03-01

    Full Text Available INTRODUCTION: Congenital eversion of the eyelids, a condition usually seen shortly after birth is a rare condition affecting one or both eyelids of the eye. Many etiologies have been described but no specific cause has been identified. We report a case of congenital eve rsion of eyelids which was managed conservatively with spontaneous correction seen in 6 days. KEYMESSAGE: Congenital eversion of the eyelids is a rare easily identifiable and potentially treatable condition. Decision of surgical intervention has to be take n with care and must be individualized for each case. Congenital eversion must be differentiated from congenital ectropion due to causes like ichthyosis as the treatment widely differs. All ophthalmologists need to be aware of this condition as it can be e asily managed on an outpatient basis

  1. Desacralising Shakespeare’s “word” by means of cultural translation/transposition

    Directory of Open Access Journals (Sweden)

    José Roberto O’Shea

    2016-09-01

    Full Text Available http://dx.doi.org/10.5007/2175-7968.2016v36n3p124 This essay addresses ways in which cultural translation/transposition can ultimately bring about a positive “desacralisation” of Shakespeare’s Word. The discussion starts from the notion of Shakespeare’s Word as “sacred” and of sacred writings as highly sensitive language, and proceeds to overview the importance of the notions of denotation, connotation, and context in translation. Then, the essay offers working definitions of cultural translation or cultural transposition, and of non-literal translation. Finally, the essay highlights the author’s main aims in translating Shakespeare’s theatre and offers a few examples of cultural translation/transposition in his own rendering of Shakespeare’s drama into Brazilian Portuguese.

  2. Desacralising Shakespeare’s “word” by means of cultural translation/transposition

    Directory of Open Access Journals (Sweden)

    José Roberto O’Shea

    2016-12-01

    Full Text Available This essay addresses ways in which cultural translation/transposition can ultimately bring about a positive “desacralisation” of Shakespeare’s Word. The discussion starts from the notion of Shakespeare’s Word as “sacred” and of sacred writings as highly sensitive language, and proceeds to overview the importance of the notions of denotation, connotation, and context in translation. Then, the essay offers working definitions of cultural translation or cultural transposition, and of non-literal translation. Finally, the essay highlights the author’s main aims in translating Shakespeare’s theatre and offers a few examples of cultural translation/transposition in his own rendering of Shakespeare’s drama into Brazilian Portuguese.

  3. Fat transposition with a single subdermal stitch for the treatment of deep tear trough.

    Science.gov (United States)

    Medel, Ramón; Hristodulopulos, Vanessa; Vásquez, LuzMaría

    2014-12-01

    To describe a fixation technique of the medial and central fat pads in the subperiosteal pocket for transconjunctival fat transposition, using a single subdermal, non-removable, non-absorbable stitch. Retrospective study of 19 patients with bilateral deep tear through treated by means of transconjunctival fat transposition. Charts and photographic records were reviewed. Photographical and clinical improvement of the deep tear through and fat prolapse was observed in all patients in variable degrees. There were no intraoperative complications. Significant periocular hematoma occurred in 1 patient and solved without complications. Two patients presented transitory fat pedicle hardening and one patient presented a conjunctival inferior fornix granuloma, surgically removed. All patients were satisfied. Transconjunctival subperiosteal fat transposition with single subdermal stitch to fix the medial and central fat pads, for the treatment of deep tear trough and fat prolapse demonstrated high patient satisfaction, good aesthetic results with no significant or permanent complications.

  4. [Foster Modification of Full Tendon Transposition of Vertical Rectus Muscles for Sixth Nerve Palsy].

    Science.gov (United States)

    Heede, Santa

    2018-04-11

    Since 1907 a variety of muscle transposition procedures for the treatment of abducens nerve palsy has been established internationally. Full tendon transposition of the vertical rectus muscle was initially described by O'Connor 1935 and then augmented by Foster 1997 with addition of posterior fixation sutures on the vertical rectus muscle. Full tendon transposition augmented by Foster belongs to the group of the most powerful surgical techniques to improve the abduction. Purpose of this study was to evaluate the results of full tendon vertical rectus transposition augmented with lateral fixation suture for patients with abducens nerve palsy. Full tendon transpositions of vertical rectus muscles augmented with posterior fixation suture was performed in 2014 on five patients with abducens nerve palsy. Two of the patients received Botox injections in the medial rectus muscle: one of them three months after the surgery and another during the surgery. One of the patients had a combined surgery of the horizontal muscles one year before. On three of the patients, who received a pure transposition surgery, the preoperative deviation at the distance (mean: + 56.6 pd; range: + 40 to + 80 pd) was reduced by a mean of 39.6 pd (range 34 to 50 pd), the abduction was improved by a mean of 3 mm (range 2 to 4 mm). The other two patients, who received besides the transposition procedure additional surgeries of the horizontal muscles, the preoperative deviation at the distance (+ 25 and + 126 pd respectively) was reduced by 20 and 81 pd respectively. The abduction was improved by 4 and 8 mm respectively. After surgery two patients developed a vertical deviation with a maximum of 4 pd. None of the patients had complications or signs of anterior segment ischemia. The elevation and/or depression was only marginally affected. There was no diplopia in up- or downgaze. Full tendon transposition of vertical rectus muscles, augmented with lateral posterior fixation suture is

  5. Surrogate pregnancy in a patient who underwent radical hysterectomy and bilateral transposition of ovaries.

    Science.gov (United States)

    Azem, Foad; Yovel, Israel; Wagman, Israel; Kapostiansky, Rita; Lessing, Joseph B; Amit, Ami

    2003-05-01

    To evaluate IVF-surrogate pregnancy in a patient with ovarian transposition after radical hysterectomy for carcinoma of the cervix. Case report. A maternity hospital in Tel Aviv that is a major tertiary care and referral center. A 29-year-old woman who underwent Wertheim's hysterectomy for carcinoma of the uterine cervix and ovarian transposition before total pelvic irradiation. Standard IVF treatment, transabdominal oocyte retrieval, and transfer to surrogate mother. Outcome of IVF cycle. A twin pregnancy in the first cycle. This is the second reported case of controlled ovarian stimulation and oocyte retrieval performed on a transposed ovary.

  6. 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...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

  7. Echocardiographic knowledge-based reconstruction for quantification of the systemic right ventricle in young adults with repaired D-transposition of great arteries.

    Science.gov (United States)

    Kutty, Shelby; Li, Ling; Polak, Amanda; Gribben, Paul; Danford, David A

    2012-03-15

    The systemic right ventricle (RV) in congenital heart disease is susceptible to progressive dilation and dysfunction. A 2-dimensional echocardiographic means for serial monitoring of the RV would be of great value in this clinical setting. We used 2-dimensional echocardiography with knowledge-based reconstruction (2DE-KBR) for evaluation of systemic RV. Patients with d-transposition of great arteries repaired with an atrial switch and without implanted pacemakers were prospectively recruited for same-day 2DE-KBR and cardiac magnetic resonance (CMR) imaging. RV images were acquired in various 2-dimensional imaging planes using a 3-dimensional space-localizing device attached to the imaging transducer and 3-dimensional reconstruction was performed. RV end-diastolic volume, end-systolic volume, and ejection fraction (EF) were calculated and compared to volumetric CMR analysis. Fifteen patients (7 women, 8 men, 24 ± 7 years old, weight 67 ± 12 kg) were studied. There was good agreement of 2DE-KBR and CMR measurements. Mean RV end-diastolic volume was 221 ± 39 ml with 2DE-KBR and 231 ± 35 ml with CMR (r = 0.80); mean end-systolic volume was 129 ± 35 ml with KBR and 132 ± 30 ml with CMR (r = 0.82), and EF was 42 ± 10% with KBR and 43 ± 7% with CMR (r = 0.86). For 2DE-KBR mean interobserver variabilities were 4.6%, 2.6%, and 4.3%; intraobserver variabilities were 3.2%, 3.1%, and 2.3%, respectively, for end-diastolic volume, end-systolic volume, and EF. In conclusion, this study demonstrates the clinical feasibility of quantifying systemic RV volumes and function using 2DE-KBR in adolescents and young adults with repaired d-transposition of great arteries and good agreement of measurements with CMR. Copyright © 2012 Elsevier Inc. All rights reserved.

  8. Evaluation of congenital heart disease by three-dimensional MR imaging

    International Nuclear Information System (INIS)

    Vannier, M.W.; Gutierrez, F.R.; Canter, C.E.; Yoffie, R.L.; Hildebolt, C.F.

    1988-01-01

    In an evaluation of the detectability of intra-and extracardiac morphologic defects with electrocardiographically gated magnetic resonance (MR) imaging, 100 patients were studied, including ten without and 90 with abnormalities. The abnormalities included septal defects, tetrology of Fallot, pulmonary atresia, transposition of the great vessels, and others. The patients with abnormalities were studied angiographically and with echocardiographic analyses. Two radiologists with cardiac MR imaging experience evaluated the scans in a blinded fashion, and the results were analyzed by means of receiver operating characteristic analysis. The diagnostic value of routine two-dimensional cardiac MR imaging was compared with that of three-dimensional reconstruction imaging and with the results of cardiac catheterization and echocardiography. The reported sensitivity and specificity of echocardiography in the detection of congenital heart disease is comparable to that of MR imaging. The differences in diagnostic value between various modalities for the imaging of congenital heart disease may be determined from the results of the preliminary series

  9. Organizational topology of brain and its relationship to ADHD in adolescents with d-transposition of the great arteries.

    Science.gov (United States)

    Schmithorst, Vincent J; Panigrahy, Ashok; Gaynor, J William; Watson, Christopher G; Lee, Vince; Bellinger, David C; Rivkin, Michael J; Newburger, Jane W

    2016-08-01

    Little is currently known about the impact of congenital heart disease (CHD) on the organization of large-scale brain networks in relation to neurobehavioral outcome. We investigated whether CHD might impact ADHD symptoms via changes in brain structural network topology in a cohort of adolescents with d-transposition of the great arteries (d-TGA) repaired with the arterial switch operation in early infancy and referent subjects. We also explored whether these effects might be modified by apolipoprotein E (APOE) genotype, as the APOE ε2 allele has been associated with worse neurodevelopmental outcomes after repair of d-TGA in infancy. We applied graph analysis techniques to diffusion tensor imaging (DTI) data obtained from 47 d-TGA adolescents and 29 healthy referents to construct measures of structural topology at the global and regional levels. We developed statistical mediation models revealing the respective contributions of d-TGA, APOE genotype, and structural network topology on ADHD outcome as measured by the Connors ADHD/DSM-IV Scales (CADS). Changes in overall network connectivity, integration, and segregation mediated worse ADHD outcomes in d-TGA patients compared to healthy referents; these changes were predominantly in the left and right intrahemispheric regional subnetworks. Exploratory analysis revealed that network topology also mediated detrimental effects of the APOE ε4 allele but improved neurobehavioral outcomes for the APOE ε2 allele. Our results suggest that disruption of organization of large-scale networks may contribute to neurobehavioral dysfunction in adolescents with CHD and that this effect may interact with APOE genotype.

  10. 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.

  11. Congenital cystic adenomatoid lung malformation of newborn

    International Nuclear Information System (INIS)

    Reither, M.; Peltner, H.U.; Weigel, W.; Braune, M.; Heiming, E.

    1980-01-01

    The congenital cystic adenomatoid malformation (CCAM) of the newborn is a particular form among the cystic disorders of the lung. The clinical findings, illustrated by four cases, and especially the roentgenographic symptoms are typical. Different radiologic examinations, including the computertomography, are discussed. The differential diagnosis of the disease is various, and therefore a correct and on time diagnosis is necessary, because the prognosis of the patient depends on an adequate therapy. (orig.) [de

  12. Congenital orbital teratoma.

    Science.gov (United States)

    Aiyub, Shereen; Chan, Wengonn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

    2013-12-01

    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.

  13. 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.

  14. Congenital Constriction Band Syndrome

    OpenAIRE

    Rajesh Gupta, Fareed Malik, Rishabh Gupta, M.A.Basit, Dara Singh

    2008-01-01

    Congenital constriction bands are anomalous bands that encircle a digit or an extremity. Congenitalconstriction band syndrome is rare condition and is mostly associated with other musculoskeletaldisorders.We report such a rare experience.

  15. Congenital anterior urethral diverticulum

    International Nuclear Information System (INIS)

    Jung, Hyun Sub; Chung, Young Sun; Suh, Chee Jang; Won, Jong Jin

    1985-01-01

    Two cases of congenital anterior urethral diverticular which have occurred in a 4 year old and one month old boy are presented. Etiology, diagnostic procedures, and its clinical results are briefly reviewed

  16. Congenital chylous ascites

    International Nuclear Information System (INIS)

    Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.

    2011-01-01

    Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity. (authors)

  17. 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.

  18. Impaired pitch perception and memory in congenital amusia: the deficit starts in the auditory cortex.

    Science.gov (United States)

    Albouy, Philippe; Mattout, Jérémie; Bouet, Romain; Maby, Emmanuel; Sanchez, Gaëtan; Aguera, Pierre-Emmanuel; Daligault, Sébastien; Delpuech, Claude; Bertrand, Olivier; Caclin, Anne; Tillmann, Barbara

    2013-05-01

    Congenital amusia is a lifelong disorder of music perception and production. The present study investigated the cerebral bases of impaired pitch perception and memory in congenital amusia using behavioural measures, magnetoencephalography and voxel-based morphometry. Congenital amusics and matched control subjects performed two melodic tasks (a melodic contour task and an easier transposition task); they had to indicate whether sequences of six tones (presented in pairs) were the same or different. Behavioural data indicated that in comparison with control participants, amusics' short-term memory was impaired for the melodic contour task, but not for the transposition task. The major finding was that pitch processing and short-term memory deficits can be traced down to amusics' early brain responses during encoding of the melodic information. Temporal and frontal generators of the N100m evoked by each note of the melody were abnormally recruited in the amusic brain. Dynamic causal modelling of the N100m further revealed decreased intrinsic connectivity in both auditory cortices, increased lateral connectivity between auditory cortices as well as a decreased right fronto-temporal backward connectivity in amusics relative to control subjects. Abnormal functioning of this fronto-temporal network was also shown during the retention interval and the retrieval of melodic information. In particular, induced gamma oscillations in right frontal areas were decreased in amusics during the retention interval. Using voxel-based morphometry, we confirmed morphological brain anomalies in terms of white and grey matter concentration in the right inferior frontal gyrus and the right superior temporal gyrus in the amusic brain. The convergence between functional and structural brain differences strengthens the hypothesis of abnormalities in the fronto-temporal pathway of the amusic brain. Our data provide first evidence of altered functioning of the auditory cortices during pitch

  19. Random mutagenesis of the hyperthermophilic archaeon Pyrococcus furiosus using in vitro mariner transposition and natural transformation.

    Science.gov (United States)

    Guschinskaya, Natalia; Brunel, Romain; Tourte, Maxime; Lipscomb, Gina L; Adams, Michael W W; Oger, Philippe; Charpentier, Xavier

    2016-11-08

    Transposition mutagenesis is a powerful tool to identify the function of genes, reveal essential genes and generally to unravel the genetic basis of living organisms. However, transposon-mediated mutagenesis has only been successfully applied to a limited number of archaeal species and has never been reported in Thermococcales. Here, we report random insertion mutagenesis in the hyperthermophilic archaeon Pyrococcus furiosus. The strategy takes advantage of the natural transformability of derivatives of the P. furiosus COM1 strain and of in vitro Mariner-based transposition. A transposon bearing a genetic marker is randomly transposed in vitro in genomic DNA that is then used for natural transformation of P. furiosus. A small-scale transposition reaction routinely generates several hundred and up to two thousands transformants. Southern analysis and sequencing showed that the obtained mutants contain a single and random genomic insertion. Polyploidy has been reported in Thermococcales and P. furiosus is suspected of being polyploid. Yet, about half of the mutants obtained on the first selection are homozygous for the transposon insertion. Two rounds of isolation on selective medium were sufficient to obtain gene conversion in initially heterozygous mutants. This transposition mutagenesis strategy will greatly facilitate functional exploration of the Thermococcales genomes.

  20. Transcription and somatic transposition of the maize En/Spm transposon system in rice

    NARCIS (Netherlands)

    Greco, R.; Ouwerkerk, P.B.F.; Taal, A.J.C.; Sallaud, C.; Guiderdoni, E.; Meijer, A.H.; Hoge, J.H.C.; Pereira, A.B.

    2004-01-01

    Transposition of the maize En/Spm system in rice was investigated using a two-component construct consisting of an immobilised transposase source driven by the CaMV 35S-promoter, and a modified I/dSpm transposon. Mobilization of I/dSpm in somatic sectors was demonstrated by sequencing of excision

  1. Straight configuration saphenous vein transposition to popliteal artery for vascular access.

    Science.gov (United States)

    Caco, Gentian; Golemi, Dhurata; Likaj, Eriola

    2017-03-21

    The saphenous vein is commonly used as a vascular graft in peripheral artery surgery but rarely used for vascular access. The literature on straight configuration saphenous vein transposition to the popliteal artery is scarce. Here we present two cases of straight configuration saphenous vein transposition to the popliteal artery for vascular access, the surgical technique and respective follow-up. Two young men, aged 29 and 36 years, were chosen for lower-limb vascular access for hemodialysis. The first patient was paraplegic since birth. He used his arms to move so upper extremity vascular access was avoided. The second patient presented with an infected upper extremity arteriovenous graft (AVG) and after multiple closed AVFs he had no more available arm veins. Both patients received autologous lower extremity straight configuration saphenous vein transpositions to the popliteal artery under spinal anesthesia in May and October 2012, respectively. Cannulation of the fistula was allowed after one month. There were no early complications. Slight swelling on the leg appeared in one of the patients. Both fistulas were still functional after 36 and 32 months, respectively. The straight configuration saphenous vein transposition to popliteal artery is simple to perform, offers a long and straight segment for cannulation and may be a suitable autologous vascular access in selected patients.

  2. Coupled external fixator and skin flap transposition for treatment of exposed and nonunion bone.

    Science.gov (United States)

    Zhao, Yong-gang; Ding, Jing; Wang, Neng

    2011-02-01

    To discuss the effect of coupled external fixator and skin flap transposition on exposed and nonunion bones. The data of 12 cases of infected nonunion and exposed bone following open fracture treated in our hospital during the period of March 1998 to June 2008 were analysed. There were 10 male patients, 2 female patients, whose age were between 19-52 years and averaged 28 years. There were 10 tibial fractures and 2 femoral fractures. The course of diseases lasted for 12-39 months with the mean period of 19 months. All the cases were treated by the coupled external fixator and skin flap transposition. Primary healing were achieved in 10 cases and delayed healing in 2 cases in whom the tibia was exposed due to soft tissue defect and hence local flap transposition was performed. All the 12 cases had bony union within 6-12 months after operation with the average time of 8 months. They were followed up for 1-3 years and all fractures healed up with good function and no infection recurrence. The coupled external fixator and skin flap transposition therapy have shown optimal effects on treating infected, exposed and nonunion bones.

  3. Feasibility of transposition of the ovaries in the surgical and radiotherapeutical treatment of cervical cancer

    NARCIS (Netherlands)

    van Beurden, M.; Schuster-Uitterhoeve, A. L.; Lammes, F. B.

    1990-01-01

    Ovaries are seldom subject to metastases and therefore their preservation is possible in radical cervical cancer surgery. However, with postoperative radiotherapy they cannot be preserved unless they are placed outside the radiation field. The practicality of this transposition was analysed in a

  4. Transposition of the acetabulum after iliac ischial osteotomy in the treatment of hip dysplasia in infants

    Directory of Open Access Journals (Sweden)

    Vladimir E Baskov

    2016-06-01

    Conclusion. Transposition of the acetabulum after iliac and ischial pelvic osteotomy is an effective treatment for dysplastic instability of the acetabulum in children aged 9–16 years. The procedure is indicated when it is necessary to rotate the acetabular fragment by more than 25°, and there is no need for hip medialization.

  5. Letter-Transposition Effects Are Not Universal: The Impact of Transposing Letters in Hebrew

    Science.gov (United States)

    Velan, Hadas; Frost, Ram

    2009-01-01

    We examined the effects of letter-transposition in Hebrew in three masked-priming experiments. Hebrew, like English has an alphabetic orthography where sequential and contiguous letter strings represent phonemes. However, being a Semitic language it has a non-concatenated morphology that is based on root derivations. Experiment 1 showed that…

  6. Misfits and compliance patterns in the transposition and implementation of the Habitats Directive—four cases

    NARCIS (Netherlands)

    Frederiksen, Pia; Sluis, van der Theo; Vadineanu, Angheluta; Terkenli, Theano S.; Gaube, Veronika; Gravsholt Busck, Anne; Vesterager, Jens Peter; Geamana, Nicoleta; Schistou, Despoina E.; Pedroli, Bas

    2017-01-01

    This paper investigates the transposition and implementation of the Habitats Directive in four European member states, namely Denmark, the Netherlands, Greece, and Romania, and the role that institutional misfits have played in more or less successful implementation processes. Departing in the

  7. Modified semitendinosus muscle transposition to repair ventral perineal hernia in 14 dogs.

    Science.gov (United States)

    Morello, E; Martano, M; Zabarino, S; Piras, L A; Nicoli, S; Bussadori, R; Buracco, P

    2015-06-01

    To describe a modified technique of semitendinosus muscle transposition for the repair of ventral perineal hernia. Retrospective review of case records of dogs with ventral perineal hernia that were treated by transposing the medial half of the longitudinally split semitendinosus muscle of one limb. The transposition of the internal obturator muscle was used when uni- or bilateral rectal sacculation was also present in addition to ventral perineal hernia; colopexy and vas deferens pexy were also performed. Fourteen dogs were included. In addition to ventral perineal hernia, unilateral and bilateral perineal hernia was also present in five and six of the dogs, respectively. The mean follow-up time was 890 days. Ventral perineal hernia was successfully managed by the modified semitendinosus muscle transposition with minor complications in all the dogs included in the study. Despite the small number of dogs included, the unilateral transposition of the medial half of the longitudinally split semitendinosus muscle consistently supported the ventral rectal enlargement in perineal hernia without obvious adverse effects. © 2015 British Small Animal Veterinary Association.

  8. An original procedure for balanus repair with transposition of the testis

    Directory of Open Access Journals (Sweden)

    D. G. Kurbatov

    2016-01-01

    Full Text Available The paper presents the unique clinical experience of successful sexual rehabilitation of a patient who has undergone penile amputation for cancer. Complex reconstruction of all parts of the lost organ, by using known methods and those proposed for the first time in global practice (balanus repair with transposition of the testis, was performed in the patient.

  9. Non-existence of bipartite bound entanglement with negative partial transposition

    OpenAIRE

    Sperling, J.; Vogel, W.

    2009-01-01

    Bound entanglement with a nonpositive partial transposition (NPT) does not exist. For any NPT entangled state a distillation procedure can be based on a certain number of copies. This number is the minimal Schmidt rank of a pure state needed to witness the NPT entanglement under study.

  10. Interventional Cardiology for Congenital Heart Disease.

    Science.gov (United States)

    Kenny, Damien

    2018-05-01

    Congenital heart interventions are now replacing surgical palliation and correction in an evolving number of congenital heart defects. Right ventricular outflow tract and ductus arteriosus stenting have demonstrated favorable outcomes compared to surgical systemic to pulmonary artery shunting, and it is likely surgical pulmonary valve replacement will become an uncommon procedure within the next decade, mirroring current practices in the treatment of atrial septal defects. Challenges remain, including the lack of device design focused on smaller infants and the inevitable consequences of somatic growth. Increasing parental and physician expectancy has inevitably lead to higher risk interventions on smaller infants and appreciation of the consequences of these interventions on departmental outcome data needs to be considered. Registry data evaluating congenital heart interventions remain less robust than surgical registries, leading to a lack of insight into the longer-term consequences of our interventions. Increasing collaboration with surgical colleagues has not been met with necessary development of dedicated equipment for hybrid interventions aimed at minimizing the longer-term consequences of scar to the heart. Therefore, great challenges remain to ensure children and adults with congenital heart disease continue to benefit from an exponential growth in minimally invasive interventions and technology. This can only be achieved through a concerted collaborative approach from physicians, industry, academia and regulatory bodies supporting great innovators to continue the philosophy of thinking beyond the limits that has been the foundation of our specialty for the past 50 years. Copyright © 2018. The Korean Society of Cardiology.

  11. Clinical features and surgical outcomes of complete transposition of the great arteries

    Directory of Open Access Journals (Sweden)

    Suk Jin Hong

    2012-10-01

    Full Text Available &lt;B&gt;Purpose:&lt;/B&gt; This single-center study aimed to assess the clinical features and surgical approaches and outcomes of complete transposition of the great arteries (TGA. &lt;B&gt;Methods:&lt;/B&gt; TGA patients who had undergone surgical correction at the Kyungpook National University Hospital from January 2000 to December 2010, were retrospectively evaluated for patient characteristics, clinical manifestation, preoperative management, intraoperative findings, postoperative progress, and follow-up status. &lt;B&gt;Results:&lt;/B&gt; Twenty-eight patients (17 boys and 11 girls, mean age= 10.6±21.5 days were included and were categorized as follows: group I, TGA with intact ventricular septum (n=13; group II, TGA with ventricular septal defect (VSD, n=12; and group III, TGA/VSD with pulmonary stenosis (n=3. Group I underwent the most intensive preoperative management (balloon atrial septostomy and prostaglandin E1 medication. Group II showed the highest incidence of heart failure (P&lt;0.05. Usual and unusual coronary anatomy patterns were observed in 20 (71% and 8 patients, respectively. Arterial and half-turned truncal switch operations were performed in 25 and 3 patients (Group III, respectively. Postoperative complications included cardiac arrhythmias (8 patients, central nervous system complications (3 patients, acute renal failure (1 patient, infections (3 patients, and cardiac tamponade (1 patient, and no statistically significant difference was observed between the groups. Group II showed the mildest aortic regurgitation on follow-up echocardiograms (P&lt;0.05. One patient underwent reoperation, and 1 died. The overall mortality rate was 4%. &lt;B&gt;Conclusion:&lt;/B&gt; Our study showed favorable results in all the groups and no significant difference in postoperative complication, reoperation, and mortality among the groups. However, our results were

  12. [Neonatal anatomical repair of transposition of great vessels associated with atrial septal defect. Apropos of 42 cases].

    Science.gov (United States)

    Planché, C; Serraf, A; Bruniaux, J; Lacour-Gayet, F; Bouchart, F; Losay, J; Touchot, A

    1991-05-01

    The good results obtained by anatomic correction of simple transposition of the great arteries (TGA) in the neonatal period have incited some surgical teams to widen the indications to neonates with TGA associated with ventricular septal defect (VSD). The classical management of these patients is a two stage procedure: banding of the pulmonary artery followed by detransposition, which carries a certain risk. Between January 1985 and June 1990, 42 neonates with TGA and VSD underwent a combined procedure consisting in anatomic correction of the TGA and closure of the VSD. The average age of these patients was 16 days, and the average weight was 3.3 kg. Ten patients had coarctation and 6 underwent a complete one stage correction by an anterior approach. The surgical technique consisted in closing the VSD from the right atrium in 20 patients, from the right ventricle in 11 patients and from the pulmonary artery in 11 patients, associated with detransposition of the great arteries and coronary artery reimplantation. Three children died in the preoperative period (7.1%). In two cases, death was related to malposition of the coronary artery. The third fatality was the result of haemorrhage. There has been one late death three years after surgery. Four patients have been reoperated for stenosis of the right ventricular outflow tract (1 case), recurrence of coarctation (2 cases) and stenosis of the superior vena cava (1 case) and have survived. All patients were followed up for an average period of 26.4 +/- 19 months. They are all in the NYHA Class I without treatment. One patient has mild aortic regurgitation.(ABSTRACT TRUNCATED AT 250 WORDS)

  13. The association of congenital neuroblastoma and congenital heart disease

    International Nuclear Information System (INIS)

    Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; 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. (orig.)

  14. Congenital malaria in China.

    Directory of Open Access Journals (Sweden)

    Zhi-Yong Tao

    2014-03-01

    Full Text Available 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

  15. Congenital club foot in a teaching hospital in Lagos, Nigeria.

    Science.gov (United States)

    Adewole, O A; Giwa, S O; Kayode, M O; Shoga, M O; Balogun, R A

    2009-06-01

    Congenital club foot has been sparsely reported in literature in Nigeria, although it has been reported as the commonest congenital musculoskeletal abnormality. This study enumerates the point prevalence of this disease in a university teaching hospital in Lagos. Better understanding of the epidemiology in our community should improve awareness, and influence management. Between June 2005 and July 2006, 72 consecutive patients with congenital club feet were seen in the orthopaedic clinic of our Hospital. Demographic data, birth weight, family history, birth facility, maternal age and associated congenital anomalies were recorded and analysed using Statistical Programme for Social Sciences (SPSS) version 15. A total of 72 patients were seen, 28 of whom had bilateral club feet resulting in a total of 100 feet. There were 38 males and 34 females. Only 29% presented in the first month of life and 28% in the second month. Maternal ages ranged between 19 and 38 years and no family history of congenital club foot was given,. Babies delivered outside the orthodox medical system (churches, traditional healers, home etc) constituted 28%. The commonest associated congenital anomalies were tibia hemimelia, hydrocephalus, inguinal hernia and umbilical hernia. A default rate of 28% was observed during treatment. Congenital club foot may not be uncommon in Nigeria. Late presentation and high default rate before correction of the deformity were observed. Establishment of special club foot clinics should reduce the default rate. Training of healthcare workers in maternity units as well as Public awareness should encourage early referral to specialists.

  16. Heart transplantation in adults with congenital heart disease.

    Science.gov (United States)

    Houyel, Lucile; To-Dumortier, Ngoc-Tram; Lepers, Yannick; Petit, Jérôme; Roussin, Régine; Ly, Mohamed; Lebret, Emmanuel; Fadel, Elie; Hörer, Jürgen; Hascoët, Sébastien

    2017-05-01

    With the advances in congenital cardiac surgery and postoperative care, an increasing number of children with complex congenital heart disease now reach adulthood. There are already more adults than children living with a congenital heart defect, including patients with complex congenital heart defects. Among these adults with congenital heart disease, a significant number will develop ventricular dysfunction over time. Heart failure accounts for 26-42% of deaths in adults with congenital heart defects. Heart transplantation, or heart-lung transplantation in Eisenmenger syndrome, then becomes the ultimate therapeutic possibility for these patients. This population is deemed to be at high risk of mortality after heart transplantation, although their long-term survival is similar to that of patients transplanted for other reasons. Indeed, heart transplantation in adults with congenital heart disease is often challenging, because of several potential problems: complex cardiac and vascular anatomy, multiple previous palliative and corrective surgeries, and effects on other organs (kidney, liver, lungs) of long-standing cardiac dysfunction or cyanosis, with frequent elevation of pulmonary vascular resistance. In this review, we focus on the specific problems relating to heart and heart-lung transplantation in this population, revisit the indications/contraindications, and update the long-term outcomes. Copyright © 2017. Published by Elsevier Masson SAS.

  17. Congenital cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Katarina Rednak-Paradiž

    2006-11-01

    Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

  18. Prevalence of congenital amusia.

    Science.gov (United States)

    Peretz, Isabelle; Vuvan, Dominique T

    2017-05-01

    Congenital amusia (commonly known as tone deafness) is a lifelong musical disorder that affects 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20 000 participants, which does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5%, with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, which suggests that congenital amusia is hereditary, with 46% first-degree relatives similarly affected; (c) the deficit is not attenuated by musical training and (d) it emerges in relative isolation from other cognitive disorder, except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

  19. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

    2001-01-01

    or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use......Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

  20. 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.

  1. 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.

  2. Evaluation of the uniformity of wide circular reference source and application of correction factors

    International Nuclear Information System (INIS)

    Silva Junior, I.A.; Xavier, M.; Siqueira, P.T.D.; Sordi, G.A.A.; Potiens, M.P.A.

    2017-01-01

    In this work the uniformity of wide circular reference sources is evaluated. This kind of reference source is still widely used in Brazil. In previous works wide rectangular reference sources were analyzed and it was shown the importance of the application of correction factors in calibration procedures of radiation monitors. Now a transposition of the methods used formerly is performed, evaluating the uniformities of circular reference sources and calculating the associated correction factors. (author)

  3. 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.

  4. Congenital hearing impairment

    Energy Technology Data Exchange (ETDEWEB)

    Robson, Caroline D. [Children' s Hospital and Harvard Medical School, Division of Neuroradiology, Department of Radiology, Boston, MA (United States)

    2006-04-15

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  5. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Ertl-Wagner, B.B.; Reiser, M.F.

    2001-01-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [de

  6. Congenital hearing impairment

    International Nuclear Information System (INIS)

    Robson, Caroline D.

    2006-01-01

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  7. 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.

  8. Congenital Heart Defects and CCHD

    Science.gov (United States)

    ... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

  9. Patient Satisfaction with Surgical Outcome after Hypospadias Correction

    NARCIS (Netherlands)

    Dokter, E.M.J.; Moues, C.M.; Rooij, I.A.L.M. van; Biezen, J.J. van der

    2017-01-01

    Background: Hypospadias is a congenital malformation in which surgical correction is indicated in most cases. Postoperative patient satisfaction is important because of its influence on the child's psychological development. Objective: To evaluate patient satisfaction with surgical outcome after

  10. Congenital abnormalities of the posterior fossa.

    Science.gov (United States)

    Bosemani, Thangamadhan; Orman, Gunes; Boltshauser, Eugen; Tekes, Aylin; Huisman, Thierry A G M; Poretti, Andrea

    2015-01-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence. RSNA, 2015

  11. Classes of n-copy undistillable quantum states with negative partial transposition

    International Nuclear Information System (INIS)

    Bandyopadhyay, Somshubhro; Roychowdhury, Vwani

    2003-01-01

    The discovery of entangled quantum states from which one cannot distill pure entanglement constitutes a fundamental recent advance in the field of quantum information. Such bipartite bound-entangled (BE) quantum states could fall into two distinct categories: (1) Inseparable states with positive partial transposition (PPT), and (2) states with negative partial transposition (NPT). While the existence of PPT BE states has been confirmed, only one class of conjectured NPT BE states has been discovered so far. We provide explicit constructions of a variety of multicopy undistillable NPT states, and conjecture that they constitute families of NPT BE states. For example, we show that for every pure state of Schmidt rank greater than or equal to 3, one can construct n-copy undistillable NPT states, for any n≥1. The abundance of such conjectured NPT BE states, we believe, considerably strengthens the notion that being NPT is only a necessary condition for a state to be distillable

  12. Endovascular management of recurrent stenosis following left renal vein transposition for the treatment of Nutcracker syndrome.

    Science.gov (United States)

    Baril, Donald T; Polanco, Patricio; Makaroun, Michel S; Chaer, Rabih A

    2011-04-01

    Nutcracker syndrome is an entity resulting from left renal vein compression by the superior mesenteric artery and the aorta, leading to symptoms of left flank pain and hematuria. Conventional treatment has been surgical, commonly through transposition of the left renal vein to a more caudal location on the inferior vena cava. Additionally, endovascular approaches, primarily via renal vein stenting, have been described for treatment of this syndrome. We report the case of a patient with Nutcracker syndrome who underwent successful left renal vein transposition but then developed recurrent symptoms 10 months postoperatively and was successfully treated with angioplasty and stenting. Copyright © 2011 Society for Vascular Surgery. Published by Mosby, Inc. All rights reserved.

  13. DNA methylation inhibits expression and transposition of the Neurospora Tad retrotransposon.

    Science.gov (United States)

    Zhou, Y; Cambareri, E B; Kinsey, J A

    2001-06-01

    Tad is a LINE-like retrotransposon of the filamentous fungus Neurospora crassa. We have analyzed both expression and transposition of this element using strains with a single copy of Tad located in the 5' noncoding sequences of the am (glutamate dehydrogenase) gene. Tad in this position has been shown to carry a de novo cytosine methylation signal which causes reversible methylation of both Tad and am upstream sequences. Here we find that methylation of the Tad sequences inhibits both Tad expression and transposition. This inhibition can be relieved by the use of 5-azacytidine, a drug which reduces cytosine methylation, or by placing the Tad/am sequences in a dim-2 genetic background.

  14. Transpositions Within User-Posted YouTube Lyric Videos: A Corpus Study

    Directory of Open Access Journals (Sweden)

    Joseph Plazak

    2016-07-01

    Full Text Available There are many practical reasons why experiences of a given musical work tend to be heard repeatedly at the same pitch transposition level, especially recordings of musical works. Yet here, a corpus study is presented that challenges this very basic assumption of music perception. In 2011, an initial corpus of 100 user-posted YouTube videos was collected in order to investigate the prevalence of transposition and tempo alterations within these videos. Results found 42% of these videos contained nominal changes of pitch (36% and/or tempo (22%. Using the same methodology, a follow-up study was performed in 2015 and found only that 24% of user-posted videos contained these same alterations. Implications for these observations are discussed in light of musical communication models, YouTubeology, and absolute pitch memory.

  15. Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA

    Directory of Open Access Journals (Sweden)

    Goldmuntz Elizabeth

    2005-05-01

    Full Text Available Abstract Background PITX2 is a bicoid-related homeodomain transcription factor that plays an important role in asymmetric cardiogenesis. Loss of function experiments in mice cause severe heart malformations, including transposition of the great arteries (TGA. TGA accounts for 5–7% of all congenital heart diseases affecting 0.2 per 1000 live births, thereby representing the most frequent cyanotic heart defect diagnosed in the neonatal period. Methods To address whether altered PITX2 function could also contribute to the formation of dTGA in humans, we screened 96 patients with dTGA by means of dHPLC and direct sequencing for mutations within the PITX2 gene. Results Several SNPs could be detected, but no stop or frame shift mutation. In particular, we found seven intronic and UTR variants, two silent mutations and two polymorphisms within the coding region. Conclusion As most sequence variants were also found in controls we conclude that mutations in PITX2 are not a common cause of dTGA.

  16. New insights into the transposition mechanisms of IS6110 and its dynamic distribution between Mycobacterium tuberculosis Complex lineages.

    Science.gov (United States)

    Gonzalo-Asensio, Jesús; Pérez, Irene; Aguiló, Nacho; Uranga, Santiago; Picó, Ana; Lampreave, Carlos; Cebollada, Alberto; Otal, Isabel; Samper, Sofía; Martín, Carlos

    2018-04-01

    The insertion Sequence IS6110, only present in the pathogens of the Mycobacterium tuberculosis Complex (MTBC), has been the gold-standard epidemiological marker for TB for more than 25 years, but biological implications of IS6110 transposition during MTBC adaptation to humans remain elusive. By studying 2,236 clinical isolates typed by IS6110-RFLP and covering the MTBC, we remarked a lineage-specific content of IS6110 being higher in modern globally distributed strains. Once observed the IS6110 distribution in the MTBC, we selected representative isolates and found a correlation between the normalized expression of IS6110 and its abundance in MTBC chromosomes. We also studied the molecular regulation of IS6110 transposition and we found a synergistic action of two post-transcriptional mechanisms: a -1 ribosomal frameshift and a RNA pseudoknot which interferes translation. The construction of a transcriptionally active transposase resulted in 20-fold increase of the transposition frequency. Finally, we examined transposition in M. bovis and M. tuberculosis during laboratory starvation and in a mouse infection model of TB. Our results shown a higher transposition in M. tuberculosis, that preferably happens during TB infection in mice and after one year of laboratory culture, suggesting that IS6110 transposition is dynamically adapted to the host and to adverse growth conditions.

  17. 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)....

  18. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

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

    2015-01-01

    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...

  19. Congenital neck masses.

    Science.gov (United States)

    Rosa, Peter A; Hirsch, David L; Dierks, Eric J

    2008-08-01

    Congenital neck lesions reflect abnormal embryogenesis in head and neck development. A thorough knowledge of embryology and anatomy is critical in the diagnosis and treatment of these lesions. The appropriate diagnosis of these lesions is necessary to provide appropriate treatment and long-term follow up, because some of these lesions may undergo malignant transformation or be harbingers of malignant disease.

  20. Congenital cystic eyeball

    Directory of Open Access Journals (Sweden)

    Gupta V

    1990-01-01

    Full Text Available A rare case of histopathologically proved case of congenital cystic eye in a one day old girl is described. It was an unusually large cystic mass bulging forwards stretching the upperlid. There was no rudimentary eyeball in the orbit. The cystic eye′s predilection for the left eye has been pointed out for the first time in this article.

  1. Congenital extracranial meningioma

    International Nuclear Information System (INIS)

    Wong, H.F.; Ng, S.H.; Wai, Y.Y.; Wan, Y.L.; Kong, M.S.

    1995-01-01

    The authors report a case of congenital meningioma in a newborn. This tumour is extremely rare and only six cases have been reported in the literature. Those reported cases were mainly intracranial. This is the first case of a neonatal extracranial meningioma that was evaluated preoperatively by computed tomography and magnetic resonance imaging. (orig.)

  2. Congenital cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Chaudhry, A.K.; Azam, M.; Maqsood, R.; Naz, B.; Salam, A.

    2003-01-01

    This case report presents the clinical picture, diagnostic methodology and surgical treatment of a female child who presented with chronic cough and dyspnoea due to congenital malformation of lung. A discussion of diagnosis and management is presented at the end. (author)

  3. 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...

  4. Congenital Heart Diseases in the Newborns of Diabetic Mothers: an Echocardiographic Study

    Directory of Open Access Journals (Sweden)

    S Rahimpour

    2011-10-01

    Full Text Available Introduction: Despite the discovery of insulin and current improvement in diabetics care, congenital malformations in diabetics are still more frequent than in the general population. The aim of this study was to identify congenital heart dieases (CHD in the newborns of diabetic mothers (IDMS. Methods: In our prospective study, color doppler echocardiography was performed in 75 consecutive full- term newborns of diabetic mothers by GE Vivid3 echocardiographic device. Newborns were classified into two subgroups according to the type of the mothers’ diabetes: pre-gestational and gestational. They were also those were classified into three subgroups according to their birth weight: appropriate, large and small for gestational age. Data analysis was made by Fisher exact test and Chi-Square test. Results: Forty nine (65% and thirty six (35% of subjects were infants of gestational (IGDM and pre-gestational diabetic mothers (IPDM, respectively. Fifty five Newborns (73% were apropriate, fourteen (19% were large and six (8% were small for gestational age. The most common echocardiographic findings included: patent ductus arteriosus (PDA: 54.7%, hypertrophic cardiomyopathy (HCMP: 24%, ventricular septal defect (VSD: 4%, atrial septal defect (ASD: 2.7%, transposition of great arteries (TGA: 1.3% and coarctation of the Aorta (COA: 1.3%. Overall incidence of congenital heart diseases was 9.3 after exclusion of PDA and HCMP cases. The incidence of congenital heart diseases was higher in macrosomic than nonmacrosomic infants of diabetic mothers (P<0.001. Congenital heart diseases were more common in infants of pre-gestational than gestational diabetic mothers (P=0.004. Conclusion: Our results showed that diabetic mothers are at increased risk of giving birth to a newborn with congenital heart disease, and transthoracic echocardiography is recommended for all infants of diabetic mothers.

  5. Effect of brushwood transposition on the leaf litter arthropod fauna in a cerrado area

    Directory of Open Access Journals (Sweden)

    Paula Cristina Benetton Vergílio

    2013-10-01

    Full Text Available The results of ecological restoration techniques can be monitored through biological indicators of soil quality such as the leaf litter arthropod fauna. This study aimed to determine the immediate effect of brushwood transposition transferred from an area of native vegetation to a disturbed area, on the leaf litter arthropod fauna in a degraded cerrado area. The arthropod fauna of four areas was compared: a degraded area with signal grass, two experimental brushwood transposition areas, with and without castor oil plants, and an area of native cerrado. In total, 7,660 individuals belonging to 23 taxa were sampled. Acari and Collembola were the most abundant taxa in all studied areas, followed by Coleoptera, Diptera, Hemiptera, Hymenoptera, and Symphyla. The brushwood transposition area without castor oil plants had the lowest abundance and dominance and the highest diversity of all areas, providing evidence of changes in the soil community. Conversely, the results showed that the presence of castor oil plants hampered early succession, negatively affecting ecological restoration in this area.

  6. Axillary Reconstruction for Hidradenitis Suppurativa with an Inner-Arm Transposition Flap Creating a Brachioplasty Effect

    Directory of Open Access Journals (Sweden)

    Daniel L. Ching

    2017-05-01

    Full Text Available BackgroundHidradenitis suppurativa (HS is a chronic skin condition that can affect any area with apocrine sweat glands and has the potential to involve multiple sites concurrently. Commonly affected sites include the axilla, groin, perineum and perianal areas. In this study we performed a literature review on the surgical methods for HS and describe an innovative technique for reconstructing axilla HS using an inner-arm transposition flap.MethodsWe reviewed all cases (5 cases from 4 patients of transposition flap reconstruction performed by the senior author at a single London tertiary hospital from 2008–2013. Patient related outcome measures were collected using the Derriford appearance scale (DAS 24 and a study specific questionnaire.ResultsAll patients were satisfied with their final result. One out of five cases had a complication but did not result in flap failure. There is no disease recurrence to date. DAS 24 scores collected demonstrated acceptable postoperative distress that did not deviate far from the norm tables while study specific questionnaire reveal desirable outcomes.ConclusionsWe have managed to achieve our aim through the use of the innovative inner-arm transposition flap. Our study hopes to provide an additional technique for axillary reconstruction. This technique offers the effective concealment of scars with the benefit of tightening of the arm tissue producing ‘brachioplasty like’ effects. All things considered it would be reasonable to conclude the innovative flap technique is a reliable, effective, and simple method that results in multiple benefits.

  7. Reactions of carbon radicals generated by 1,5-transposition of reactive centers

    Directory of Open Access Journals (Sweden)

    ZIVORAD CEKOVIC

    2005-03-01

    Full Text Available Radical intermediates can undergo specific reactions, such as intramolecular rearrangements, i.e., the transpositions of radical centers, which are not known in classical ionic organic reactions. 1,5-Transposition of a radical center to a non-activated carbon atom are of great synthetic importance. It can be successfully applied for the introduction of different functional groups (oxygen, nitrogen, sulfur, halogens onto a carbon atom remote from the present functional group. In addition to functionalization of a remote non-activated carbon atom, the formation of new C-C bonds on the d-carbon atom have also been achieved. 1,5-Transposition of the radical centers takes place from alkoxyl, aminyl and carbon radicals to a remote carbon atom. Relocation of the radical centers preferentially involves 1,5-transfer of a hydrogen atom, although migrations of some other groups are known. The reactions of the carbon radical generated by 1,5-relocation of the radical center are presented and their synthetic applications are reviewed.

  8. Anterior subcutaneous transposition of the ulnar nerve improves neurological function in patients with cubital tunnel syndrome

    Directory of Open Access Journals (Sweden)

    Wei Huang

    2015-01-01

    Full Text Available Although several surgical procedures exist for treating cubital tunnel syndrome, the best surgical option remains controversial. To evaluate the efficacy of anterior subcutaneous transposition of the ulnar nerve in patients with moderate to severe cubital tunnel syndrome and to analyze prognostic factors, we retrospectively reviewed 62 patients (65 elbows diagnosed with cubital tunnel syndrome who underwent anterior subcutaneous transposition. Preoperatively, the initial severity of the disease was evaluated using the McGowan scale as modified by Goldberg: 18 patients (28% had grade IIA neuropathy, 20 (31% had grade IIB, and 27 (42% had grade III. Postoperatively, according to the Wilson & Krout criteria, treatment outcomes were excellent in 38 patients (58%, good in 16 (25%, fair in 7 (11%, and poor in 4 (6%, with an excellent and good rate of 83%. A negative correlation was found between the preoperative McGowan grade and the postoperative Wilson & Krout score. The patients having fair and poor treatment outcomes had more advanced age, lower nerve conduction velocity, and lower action potential amplitude compared with those having excellent and good treatment outcomes. These results suggest that anterior subcutaneous transposition of the ulnar nerve is effective and safe for the treatment of moderate to severe cubital tunnel syndrome, and initial severity, advancing age, and electrophysiological parameters can affect treatment outcome.

  9. Internal obturator muscle transposition for treatment of perineal hernia in dogs: 34 cases (1998-2012).

    Science.gov (United States)

    Shaughnessy, Magen; Monnet, Eric

    2015-02-01

    To evaluate the outcome of dogs with perineal hernia treated with transposition of the internal obturator muscle. Retrospective case series. 34 dogs. Medical records of dogs with perineal hernia surgically treated from 1998 to 2012 were reviewed. Diagnostic methods and surgical techniques were recorded. Dogs were assigned preoperative and postoperative clinical sign scores. Complication and recurrence rates were evaluated over time. Risk factors were determined. Median follow-up time was 345 days (range, 22 to 1,423 days). Complications were observed in 10 dogs. Tenesmus (n = 9), dyschezia (7), fecal impaction (3), stranguria (4), hematochezia (2), urinary incontinence (2), diarrhea (1), urinary tract infection (1), and megacolon (1) occurred following surgery. Bladder retroflexion at the time of initial evaluation or surgery was not a risk factor for complication (hazard ratio, 1.72). One year after surgery, 51.2% dogs were free of complications. Three dogs developed a perineal hernia on the contralateral side between 35 and 95 days after surgery. The 1-year recurrence rate was 27.4%. Median time for recurrence was 28 days after surgery (range, 2 to 364 days). Postoperative tenesmus was a risk factor for the development of recurrence (hazard ratio, 2.29). Internal obturator muscle transposition was used for primary repair of perineal hernia in dogs. Recurrence was recorded as long as 1 year after surgery. Tenesmus was a risk factor for the development of recurrence after treatment of perineal hernia with internal obturator muscle transposition.

  10. [Transposition of the cephalic vein in free flap breast reconstruction: Technical note].

    Science.gov (United States)

    Silhol, T; Suffee, T; Hivelin, M; Lantieri, L

    2018-02-01

    Free flaps have become a reliable practice for breast reconstruction. However, the venous congestion is still the most frequent reason of flap failure. It is due to bad quality of the internal mammary veins, a preferential superficial venous outflow of the flap or due to venous thrombosis. The transposition of the cephalic vein could useful in some cases. We describe the surgical technique and suggest an intraoperative algorithm. Seventeen patients (15 DIEP and 2 PAP) were included. Twenty nine point four percent had an unusable internal mammary vein, 23.5% a preferential superficial venous outflow and 47.1% a venous thrombosis. The length of the cephalic vein dissected varied from 15 to 25cm. The mean time of dissection was 39min. There was no flap failure after cephalic vein transposition. The sequelae were one or two scars on the arm without any functional morbidity. The transposition of the cephalic vein is a reliable, less morbid alternative in case of bad quality internal mammary vein with a good quality internal mammary artery, in case of an additional venous outflow necessity or in case of venous thrombosis. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  11. Orthodontic correction of a transposed maxillary canine and first premolar in the permanent dentition.

    Science.gov (United States)

    Nishimura, Kazuaki; Nakao, Kimihisa; Aoki, Taijyu; Fuyamada, Mariko; Saito, Keisuke; Goto, Shigemi

    2012-10-01

    The patient was a 16-year-old Japanese girl whose chief complaints were crowding and transposition of the maxillary canine and first premolar. A setup model was used to preoperatively align the teeth in their transposed positions. The amount of postoperative reshaping was estimated for the occlusal surfaces of the teeth. However, the patient did not wish to have her teeth reduced by reshaping or to have composite materials for restorative camouflage. Because she strongly expected alignment of her teeth in the correct intra-arch position, her transposed teeth were corrected without extraction of the transposed teeth. Cone-beam computed tomography was used to obtain more detailed information about the transposition, and the direction of tooth movement was examined. Although the duration of the treatment was long, both the crowns and the roots of the transposed teeth were aligned correctly. Copyright © 2012 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

  12. Saudi Guidelines on the Diagnosis and Treatment of Pulmonary Hypertension: Pulmonary arterial hypertension associated with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Antonio Lopes

    2014-01-01

    Full Text Available Congenital heart disease (CHD with intracardiac/extracardiac shunts is an important etiology of pulmonary arterial hypertension (PAH. The majority of children with congenital cardiac shunts do not develop advanced pulmonary vasculopathy, as surgical repair of the anomalies is now performed early in life. However, if not repaired early, some defects will inevitably lead to pulmonary vascular disease (truncus arteriosus, transposition of the great arteries associated with a ventricular septal defect (VSD, atrioventricular septal defects remarkably in Down syndrome, large, nonrestrictive VSDs, patent ductus arteriosus and related anomalies. The majority of patients are now assigned to surgery based on noninvasive evaluation only. PAH becomes a concern (requiring advanced diagnostic procedures in about 2-10% of them. In adults with CHD, the prevalence of advanced pulmonary vasculopathy (Eisenmenger syndrome is around 4-12%. [1] This article will discuss the diagnostic and management approach for PAH associated with CHD (PAH-CHD.

  13. Clinical presentation and management of congenital ptosis

    Directory of Open Access Journals (Sweden)

    Marenco M

    2017-02-01

    Full Text Available Marco Marenco,1,* Ilaria Macchi,2,* Iacopo Macchi,3 Emilio Galassi,4 Mina Massaro-Giordano,5 Alessandro Lambiase1 1Department of Sense Organs, University of Rome “Sapienza”, 2Department of Ophthalmology, Campus Bio-Medico University of Rome, Rome, 3Department of Ophthalmology, University of Catania, Catania, 4Ophthalmic Clinic, Department of Ophthalmology, University of L’Aquila, L’Aquila, Italy; 5Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA *These authors contributed equally to this work Abstract: Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed. The grade of ptosis, the eyelid function, and the amblyopic risk are the parameters that affect the ophthalmologist’s decision on timing of surgery and the surgical technique to be used. In fact, there are several types of surgical techniques to correct a congenital ptosis, although very often more than one is needed to obtain an acceptable result. This paper reviews the causes of congenital ptosis and associated diseases. Particular emphasis is given to surgical management and different procedures available to correct the upper eyelid anomaly and avoid permanent damage to visual function. Keywords: ptosis, extraocular muscle development, neurologic dysfunction, surgical approach

  14. Congenital bronchobiliary fistula diagnosis by cholescintigraphy

    International Nuclear Information System (INIS)

    Aguilar, C.; Cano, R.; Camasca, A.; Del Pino, T.; Gonzales, J.; Rivera, J.; Untiveros, A.

    2005-01-01

    A case of a six-year-old female patient diagnosed with congenital bronchobiliary fistula is presented. Only 20 cases have been reported in the literature of this disease in this institution. The patient showed sings and symptoms of a respiratory illness from birth that complicated progressively. She was submitted to multiple imaging like chest x-rays, CT, ultrasound and Tc-99m HIDA cholescintigraphy. This procedure confirmed the presence of a bronchobiliary fistula that was corrected by surgery, with subsequent improvement of clinical symptoms. (authors)

  15. Prenatal screening for major congenital heart disease: assessing performance by combining national cardiac audit with maternity data.

    Science.gov (United States)

    Gardiner, Helena M; Kovacevic, Alexander; van der Heijden, Laila B; Pfeiffer, Patricia W; Franklin, Rodney Cg; Gibbs, John L; Averiss, Ian E; Larovere, Joan M

    2014-03-01

    Determine maternity hospital and lesion-specific prenatal detection rates of major congenital heart disease (mCHD) for hospitals referring prenatally and postnatally to one Congenital Cardiac Centre, and assess interhospital relative performance (relative risk, RR). We manually linked maternity data (3 hospitals prospectively and another 16 retrospectively) with admissions, fetal diagnostic and surgical cardiac data from one Congenital Cardiac Centre. This Centre submits verified information to National Institute for Cardiovascular Outcomes Research (NICOR-Congenital), which publishes aggregate antenatal diagnosis data from infant surgical procedures. We included 120 198 unselected women screened prospectively over 11 years in 3 maternity hospitals (A, B, C). Hospital A: colocated with fetal medicine, proactive superintendent, on-site training, case-review and audit, hospital B: on-site training, proactive superintendent, monthly telemedicine clinics, and hospital C: sonographers supported by local obstetrician. We then studied 321 infants undergoing surgery for complete transposition (transposition of the great arteries (TGA), n=157) and isolated aortic coarctation (CoA, n=164) screened in hospitals A, B, C prospectively, and 16 hospitals retrospectively. 385 mCHD recorded prospectively from 120 198 (3.2/1000) screened women in 3 hospitals. Interhospital relative performance (RR) in Hospital A:1.68 (1.4 to 2.0), B:0.70 (0.54 to 0.91), C:0.65 (0.5 to 0.8). Standardised prenatal detection rates (funnel plots) demonstrating inter-hospital variation across 19 hospitals for TGA (37%, 0.00 to 0.81) and CoA (34%, 0.00 to 1.06). Manually linking data sources produced hospital-specific and lesion-specific prenatal mCHD detection rates. More granular, rather than aggregate, data provides meaningful feedback to improve screening performance. Automatic maternal and infant record linkage on a national scale, requires verified, prospective maternity audit and integration of

  16. Increased arterial stiffness in children with congenital heart disease.

    Science.gov (United States)

    Häcker, Anna-Luisa; Reiner, Barbara; Oberhoffer, Renate; Hager, Alfred; Ewert, Peter; Müller, Jan

    2018-01-01

    Objective Central systolic blood pressure (SBP) is a measure of arterial stiffness and strongly associated with atherosclerosis and end-organ damage. It is a stronger predictor of cardiovascular events and all-cause mortality than peripheral SBP. In particular, for children with congenital heart disease, a higher central SBP might impose a greater threat of cardiac damage. The aim of the study was to analyse and compare central SBP in children with congenital heart disease and in healthy counterparts. Patients and methods Central SBP was measured using an oscillometric method in 417 children (38.9% girls, 13.0 ± 3.2 years) with various congenital heart diseases between July 2014 and February 2017. The test results were compared with a recent healthy reference cohort of 1466 children (49.5% girls, 12.9 ± 2.5 years). Results After correction for several covariates in a general linear model, central SBP of children with congenital heart disease was significantly increased (congenital heart disease: 102.1 ± 10.2 vs. healthy reference cohort: 100.4 ± 8.6, p congenital heart disease subgroups revealed higher central SBP in children with left heart obstructions (mean difference: 3.6 mmHg, p congenital heart disease have significantly higher central SBP compared with healthy peers, predisposing them to premature heart failure. Screening and long-term observations of central SBP in children with congenital heart disease seems warranted in order to evaluate the need for treatment.

  17. 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...... by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

  18. 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.

  19. [Congenital intestinal lymphangiectasia].

    Science.gov (United States)

    Popović, Dugan D j; Spuran, Milan; Alempijević, Tamara; Krstić, Miodrag; Djuranović, Srdjan; Kovacević, Nada; Damnjanović, Svetozar; Micev, Marjan

    2011-03-01

    Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortuous, 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. 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 supportive therapy. 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.

  20. 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.)

  1. Congenital Hepatic Cyst

    Directory of Open Access Journals (Sweden)

    Aldo Recinos

    2017-04-01

    Full Text Available Congenital hepatic cyst is a rare and nonsymptomatic condition in infants and children. Its incidence is 2.5% in the postnatal life with a much lower incidence in the prenatal period. Incidental finding on antenatal imaging is the most common presentation. We present a case of a newborn in whom fetal ultrasound detected a cyst within the fetal liver. Postnatal imaging revealed a liver cyst in the right lobe of the liver, with no other intrahepatic structure affected. Liver function tests were abnormal, but the patient was asymptomatic. Posterior follow-up imaging showed a minor decrease in size. Management of congenital hepatic cyst is usually conservative, done with periodic ultrasound monitoring. However, surgical treatment is the mainstay of treatment when hydrops, progressive enlargement, hemorrhage, torsion, or compression of adjacent structures occurs. Malignant transformation can occur, but it is extremely rare. Partial or total removal of the cyst is the preferred treatment in neonates with a large lesion.

  2. Congenital diaphramatic hernia

    International Nuclear Information System (INIS)

    Kline-Fath, Beth M.

    2012-01-01

    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.)

  3. Minimally invasive basilic vein transposition in the arm or forearm for autogenous haemodialysis access: A less morbid alternative to the conventional technique

    Directory of Open Access Journals (Sweden)

    Ankush Jairath

    2017-06-01

    Conclusion: Minimally invasive dissection of the basilic vein for vascular access transposition is a safe, reliable procedure with patency and functional outcomes comparable with those of conventional BVT.

  4. MR findings of congenital anorectal malformation

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo [Ewha Womens University, medical College, Seoul (Korea, Republic of)

    1995-05-15

    To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation.

  5. MR findings of congenital anorectal malformation

    International Nuclear Information System (INIS)

    Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo

    1995-01-01

    To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation

  6. Characterizing Congenital Amusia

    OpenAIRE

    Stewart, Lauren

    2011-01-01

    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of ...

  7. Hif1α down-regulation is associated with transposition of great arteries in mice treated with a retinoic acid antagonist

    Directory of Open Access Journals (Sweden)

    Amati Francesca

    2010-09-01

    Full Text Available Abstract Background Congenital heart defect (CHD account for 25% of all human congenital abnormalities. However, very few CHD-causing genes have been identified so far. A promising approach for the identification of essential cardiac regulators whose mutations may be linked to human CHD, is the molecular and genetic analysis of heart development. With the use of a triple retinoic acid competitive antagonist (BMS189453 we previously developed a mouse model of congenital heart defects (81%, thymic abnormalities (98% and neural tube defects (20%. D-TGA (D-transposition of great arteries was the most prevalent cardiac defect observed (61%. Recently we were able to partially rescue this abnormal phenotype (CHD were reduced to 64.8%, p = 0.05, by oral administration of folic acid (FA. Now we have performed a microarray analysis in our mouse models to discover genes/transcripts potentially implicated in the pathogenesis of this CHD. Results We analysed mouse embryos (8.5 dpc treated with BMS189453 alone and with BMS189453 plus folic acid (FA by microarray and qRT-PCR. By selecting a fold change (FC ≥ ± 1.5, we detected 447 genes that were differentially expressed in BMS-treated embryos vs. untreated control embryos, while 239 genes were differentially expressed in BMS-treated embryos whose mothers had also received FA supplementation vs. BMS-treated embryos. On the basis of microarray and qRT-PCR results, we further analysed the Hif1α gene. In fact Hif1α is down-regulated in BMS-treated embryos vs. untreated controls (FCmicro = -1.79; FCqRT-PCR = -1.76; p = 0.005 and its expression level is increased in BMS+FA-treated embryos compared to BMS-treated embryos (FCmicro = +1.17; FCqRT-PCR = +1.28: p = 0.005. Immunofluorescence experiments confirmed the under-expression of Hif1α protein in BMS-treated embryos compared to untreated and BMS+FA-treated embryos and, moreover, we demonstrated that at 8.5 dpc, Hif1α is mainly expressed in the embryo heart

  8. A Theoretical and Experimental Comparison of One Time Pad Cryptography using Key and Plaintext Insertion and Transposition (KPIT and Key Coloumnar Transposition (KCT Method

    Directory of Open Access Journals (Sweden)

    Pryo Utomo

    2017-06-01

    Full Text Available One Time Pad (OTP is a cryptographic algorithm that is quite easy to be implemented. This algorithm works by converting plaintext and key into decimal then converting into binary number and calculating Exclusive-OR logic. In this paper, the authors try to make the comparison of OTP cryptography using KPI and KCT so that the ciphertext will be generated more difficult to be known. In the Key and Plaintext Insertion (KPI Method, we modify the OTP algorithm by adding the key insertion in the plaintext that has been splitted. Meanwhile in the Key Coloumnar Transposition (KCT Method, we modify the OTP algorithm by dividing the key into some parts in matrix of rows and coloumns. Implementation of the algorithms using PHP programming language.

  9. Radiology of congenital heart disease

    International Nuclear Information System (INIS)

    Amplatz, K.

    1986-01-01

    This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy

  10. 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.

  11. Genetics Home Reference: congenital mirror movement disorder

    Science.gov (United States)

    ... Health Conditions Congenital mirror movement disorder Congenital mirror movement disorder Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Congenital mirror movement disorder is a condition in which intentional movements ...

  12. Utility of computed axial tomography angiography in anatomic evaluation of pediatric patients with congenital heart diseases

    International Nuclear Information System (INIS)

    Mosquera, Walter A; Reyes P, Rafael; Aguilera N, Favio M; Breton, Cesar A; Buitrago, Danuby A; Suarez J Ramiro; Castillo, Victor

    2007-01-01

    Although echocardiogram and cardiac catheterization are used as first option tools for congenital heart diseases diagnosis, computed tomography angiography is a minimally invasive exam that through two to three dimensional images in real time gives an adequate approach to patients having this type of pathologies that require a rapid and precise evaluation of its extra cardiac anatomy. Objective: describe the institutional experience from August 2005 to August 2006 in the use of angiography by tomography as a complementary diagnostic method in the evaluation of pediatric patients with congenital heart diseases. Method: serial descriptive study. 58 pediatric patients with clinical and echocardiographic diagnosis of congenital heart diseases were evaluated through the General Electric Multislice Light peed/16 scanner. Results: 58 patients with history of congenital heart disease were evaluated through CT angiography. Mean age was 2.4 ± 4.03 years. Twenty (33.8%) had diagnosis of pulmonary atresia, four (6.7%) had tricuspid atresia, eight (13.5%,) had double-outlet right ventricle, seven (11.8%) had tetralogy of Fallot, nine (15.2%) had alterations of the aortic arch, seven (11.8%) had coarctation of the aorta two (3.3%) had interrupted aortic arch, six (10.3%) had persistent ductus arteriosus, four (6.7%) had anomalous venous drainage and three (5.1 %) had transposition of the great arteries. High quality images that allowed assessing the precise vascular anatomy were obtained. Conclusions: computed tomography angiography turned out to be a useful tool in the diagnostic approach of congenital heart diseases, because it allowed a tridimensional anatomic reconstruction. New studies that may permit the assessment of sensitivity, specificity and concordance level of this technique with other invasive diagnostic methods available for the diagnosis of this type of diseases, are required

  13. Incidence of congenital heart disease among neonates in a neonatal unit of a tertiary care hospital

    International Nuclear Information System (INIS)

    Hussain, S.; Sabir, M.U.

    2014-01-01

    Objectives: To determine the incidence and pattern of various congenital heart disease in a neonatal unit of a tertiary care hospital. Methods: The prospective study was carried out in the neonatal unit of Combined Military Hospital, Rawalpindi, from September 2008 to August 2011. All 5800 neonates admitted with gestational age of >28 weeks irrespective of birthweight were included in the study. Neonatologist/Paediatrician carried out the neonatal examination during the first 12 hours of life. Neonates suspected of having congenital heart disease were further evaluated by pulse oxymetry, X-ray chest and echocardiography to ascertain final diagnosis and type of lesion. Data was collected on a predesigned proforma containing information regarding gender, mode of delivery, gestational age, weight at birth, family history, and associated malformations. SPSS 16 was used for statistical analysis. Results: Of the 5800 neonates, 87 (1.5%) were found to have congenital heart disease with an incidence of 15/1000. There was a male preponderance. Most common lesion was ventricular septal defect 27(31.3%), followed by atrial septal defect 20 (22.9%), patent ductus arteriosus 13 (14.94%), tetralogy of fallot 06 (6.89%), transposition of great arteries 04 (4.59%), Pulmonary stenosis 05 (5.79%) and 03(3.44%) had atrioventricular canal defects. Conclusion: Congenital heart disease is a common congenital anomaly. Its incidence varies from centre to centre due to different factors like nature of the sample, method of detection and early examination by a neonatologist/paediatrician. In this study a higher incidence is reported because it was carried out in a tertiary care unit, which is a referral hospital and all the neonates admitted in the unit were included in the study. (author)

  14. Character Decomposition and Transposition Processes in Chinese Compound Words Modulates Attentional Blink.

    Science.gov (United States)

    Cao, Hongwen; Gao, Min; Yan, Hongmei

    2016-01-01

    The attentional blink (AB) is the phenomenon in which the identification of the second of two targets (T2) is attenuated if it is presented less than 500 ms after the first target (T1). Although the AB is eliminated in canonical word conditions, it remains unclear whether the character order in compound words affects the magnitude of the AB. Morpheme decomposition and transposition of Chinese two-character compound words can provide an effective means to examine AB priming and to assess combinations of the component representations inherent to visual word identification. In the present study, we examined the processing of consecutive targets in a rapid serial visual presentation (RSVP) paradigm using Chinese two-character compound words in which the two characters were transposed to form meaningful words or meaningless combinations (reversible, transposed, or canonical words). We found that when two Chinese characters that form a compound word, regardless of their order, are presented in an RSVP sequence, the likelihood of an AB for the second character is greatly reduced or eliminated compared to when the two characters constitute separate words rather than a compound word. Moreover, the order of the report for the two characters is more likely to be reversed when the normal order of the two characters in a compound word is reversed, especially when the interval between the presentation of the two characters is extremely short. These findings are more consistent with the cognitive strategy hypothesis than the resource-limited hypothesis during character decomposition and transposition of Chinese two-character compound words. These results suggest that compound characters are perceived as a unit, rather than two separate words. The data further suggest that readers could easily understand the text with character transpositions in compound words during Chinese reading.

  15. Hippocampal damage and memory impairment in congenital cyanotic heart disease.

    Science.gov (United States)

    Muñoz-López, Mónica; Hoskote, Aparna; Chadwick, Martin J; Dzieciol, Anna M; Gadian, David G; Chong, Kling; Banks, Tina; de Haan, Michelle; Baldeweg, Torsten; Mishkin, Mortimer; Vargha-Khadem, Faraneh

    2017-04-01

    Neonatal hypoxia can lead to hippocampal atrophy, which can lead, in turn, to memory impairment. To test the generalizability of this causal sequence, we examined a cohort of 41 children aged 8-16, who, having received the arterial switch operation to correct for transposition of the great arteries, had sustained significant neonatal cyanosis but were otherwise neurodevelopmentally normal. As predicted, the cohort had significant bilateral reduction of hippocampal volumes relative to the volumes of 64 normal controls. They also had significant, yet selective, impairment of episodic memory as measured by standard tests of memory, despite relatively normal levels of intelligence, academic attainment, and verbal fluency. Across the cohort, degree of memory impairment was correlated with degree of hippocampal atrophy suggesting that even as early as neonatal life no other structure can fully compensate for hippocampal injury and its special role in serving episodic long term memory. © 2017 Wiley Periodicals, Inc. © 2017 The Authors. Hippocampus Published by Wiley Periodicals, Inc.

  16. Molecular and Genetic Studies of Congenital Myopathies

    Science.gov (United States)

    2018-03-21

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  17. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular dystrophy Related Information How ...

  18. A New Generalizable Test for Detection of Mutations Affecting Tn10 Transposition

    OpenAIRE

    Huisman, Olivier; Kleckner, Nancy

    1987-01-01

    We describe here a new rapid screen that allows easy detection of transposon or host mutations that affect Tn10 transposition in Escherichia coli. This test involves a new Tn10 derivative called the "mini-lacZ-kanR fusion hopper" or mini-Tn10-LK for short. This element does not direct expression of β-galactosidase when present at its original starting location on a suitably engineered plasmid or phage genome because it lacks appropriate transcription and translation start signals. However, t...

  19. Knowledge and Awareness of Congenital Cytomegalovirus Among Women

    Science.gov (United States)

    Jeon, Jiyeon; Victor, Marcia; Adler, Stuart P.; Arwady, Abigail; Demmler, Gail; Fowler, Karen; Goldfarb, Johanna; Keyserling, Harry; Massoudi, Mehran; Richards, Kristin; Staras, Stephanie A. S.; Cannon, Michael J.

    2006-01-01

    Background. Congenital cytomegalovirus (CMV) infection is a leading cause of disabilities in children, yet the general public appears to have little awareness of CMV. Methods. Women were surveyed about newborn infections at 7 different geographic locations. Results. Of the 643 women surveyed, 142 (22%) had heard of congenital CMV. Awareness increased with increasing levels of education (P < .0001). Women who had worked as a healthcare professional had a higher prevalence of awareness of CMV than had other women (56% versus 16%, P < .0001). Women who were aware of CMV were most likely to have heard about it from a healthcare provider (54%), but most could not correctly identify modes of CMV transmission or prevention. Among common causes of birth defects and childhood illnesses, women's awareness of CMV ranked last. Conclusion. Despite its large public health burden, few women had heard of congenital CMV, and even fewer were aware of prevention strategies. PMID:17485810

  20. Knowledge and Awareness of Congenital Cytomegalovirus Among Women

    Directory of Open Access Journals (Sweden)

    Jiyeon Jeon

    2006-01-01

    Full Text Available Background. Congenital cytomegalovirus (CMV infection is a leading cause of disabilities in children, yet the general public appears to have little awareness of CMV. Methods. Women were surveyed about newborn infections at 7 different geographic locations. Results. Of the 643 women surveyed, 142 (22% had heard of congenital CMV. Awareness increased with increasing levels of education (P<.0001. Women who had worked as a healthcare professional had a higher prevalence of awareness of CMV than had other women (56% versus 16%, P <.0001. Women who were aware of CMV were most likely to have heard about it from a healthcare provider (54%, but most could not correctly identify modes of CMV transmission or prevention. Among common causes of birth defects and childhood illnesses, women's awareness of CMV ranked last. Conclusion. Despite its large public health burden, few women had heard of congenital CMV, and even fewer were aware of prevention strategies.

  1. [10 congenital trigger fingers. Apropos of a case report].

    Science.gov (United States)

    Moutet, F; Lebrun, C; Sartorius, C

    1987-01-01

    Ten congenital triggers fingers have been treated on a 3 years old girl after correction of congenital bilateral club feet. Such a case, without any other congenital malformation seems to be unique in the French literature and only found twice in the English one. This child in spite of a normal growth and good psychomotor development, presents an unusual face, with a mouth a little bit too small, but her karyotype is normal. No trismus and no microstomia were found to enable this case to be classified in a specific syndrome. The right diagnosis may be a non evolutive arthrogryposis of the extremities. Dividing the ten proximal pulleys (A1) let 10 voluminous nodules pass through and allowed full range of motion in nine out of ten fingers. A remaining flexion deformity of the proximal interphalangeal joint needed an anterior arthrolysis, the final result was good.

  2. 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.

  3. Long-Term Outcome of Mustard/Senning Correction for Transposition of the Great Arteries in Sweden and Denmark

    DEFF Research Database (Denmark)

    Vejlstrup, Niels; Sørensen, Keld; Mattsson, Eva

    2015-01-01

    and leaves the right ventricle as the systemic ventricle. The Mustard and Senning cohort is now well into adulthood and we begin to see the long-term outcome. METHODS AND RESULTS: All the 6 surgical centers that performed Mustard and Senning operations in Sweden and Denmark identified all operated TGA...... patients. Information about death was obtained in late 2007 and early 2008 from the Danish and Swedish Centralised Civil Register by using the patients' unique national Civil Registration Numbers. Four hundred sixty-eight patients undergoing the atrial switch operation were identified. Perioperative 30-day...... of long-term outcome (hazard ratio, 1.90; 95% confidence interval, 1.05-3.46, P=0.04), once the TGA patient has survived the perioperative period. The risk of reoperation was correlated to the presence of associated defects and where the first Mustard/Senning operation was performed. CONCLUSIONS: The long...

  4. Congenital Midureteric Stricture

    Directory of Open Access Journals (Sweden)

    Singh Shalinder

    2001-01-01

    Full Text Available Congenital midureteric obstruction is a rare entity which can be caused by either ureteric valves or strictures. We report our experience with four patients with midureteric obstruction due to stricture over a six-year period. The condition needs to be differentiated from obstruction of the pelviureteric and vesicoureteric junctions. Obstruction can be initially screened by ultrasound and confirmed by a radionuclide scan with furosemide challenge. Retrograde ureteropyelography and/or intravenous urography may be required to define the level of the stricture.

  5. 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.

  6. Congenital Syphilis Masquerading as Leukemia

    OpenAIRE

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

    2017-01-01

    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.

  7. What Are Congenital Heart Defects?

    Science.gov (United States)

    ... a baby with a congenital heart defect. Family history and genetics Congenital heart disease is not usually passed along ... you or your child to a specialist in genetic testing. Cardiac MRI to diagnose a ... Factors to review family history, smoking, and medicines that increase your risk of ...

  8. Publisher Correction

    DEFF Research Database (Denmark)

    Turcot, Valérie; Lu, Yingchang; Highland, Heather M

    2018-01-01

    In the published version of this paper, the name of author Emanuele Di Angelantonio was misspelled. This error has now been corrected in the HTML and PDF versions of the article.......In the published version of this paper, the name of author Emanuele Di Angelantonio was misspelled. This error has now been corrected in the HTML and PDF versions of the article....

  9. Author Correction

    DEFF Research Database (Denmark)

    Grundle, D S; Löscher, C R; Krahmann, G

    2018-01-01

    A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.......A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper....

  10. Repetitive transpositions of mitochondrial DNA sequences to the nucleus during the radiation of horseshoe bats (Rhinolophus, Chiroptera).

    Science.gov (United States)

    Shi, Huizhen; Dong, Ji; Irwin, David M; Zhang, Shuyi; Mao, Xiuguang

    2016-05-01

    Transposition of mitochondrial DNA into the nucleus, which gives rise to nuclear mitochondrial DNAs (NUMTs), has been well documented in eukaryotes. However, very few studies have assessed the frequency of these transpositions during the evolutionary history of a specific taxonomic group. Here we used the horseshoe bats (Rhinolophus) as a case study to determine the frequency and relative timing of nuclear transfers of mitochondrial control region sequences. For this, phylogenetic and coalescent analyzes were performed on NUMTs and authentic mtDNA sequences generated from eight horseshoe bat species. Our results suggest at least three independent transpositions, including two ancient and one more recent, during the evolutionary history of Rhinolophus. The two ancient transpositions are represented by the NUMT-1 and -2 clades, with each clade consisting of NUMTs from almost all studied species but originating from different portions of the mtDNA genome. Furthermore, estimates of the most recent common ancestor for each clade corresponded to the time of the initial diversification of this genus. The recent transposition is represented by NUMT-3, which was discovered only in a specific subgroup of Rhinolophus and exhibited a close relationship to its mitochondrial counterpart. Our similarity searches of mtDNA in the R. ferrumequinum genome confirmed the presence of NUMT-1 and NUMT-2 clade sequences and, for the first time, assessed the extent of NUMTs in a bat genome. To our knowledge, this is the first study to report on the frequency of transpositions of mtDNA occurring before the common ancestry of a genus. Copyright © 2016 Elsevier B.V. All rights reserved.

  11. Autonomic regulation in fetuses with congenital heart disease.

    Science.gov (United States)

    Siddiqui, Saira; Wilpers, Abigail; Myers, Michael; Nugent, J David; Fifer, William P; Williams, Ismée A

    2015-03-01

    Exposure to antenatal stressors affects autonomic regulation in fetuses. Whether the presence of congenital heart disease (CHD) alters the developmental trajectory of autonomic regulation is not known. This prospective observational cohort study aimed to further characterize autonomic regulation in fetuses with CHD; specifically hypoplastic left heart syndrome (HLHS), transposition of the great arteries (TGA), and tetralogy of Fallot (TOF). From 11/2010 to 11/2012, 92 fetuses were enrolled: 41 controls and 51 with CHD consisting of 19 with HLHS, 12 with TGA, and 20 with TOF. Maternal abdominal fetal electrocardiogram (ECG) recordings were obtained at 3 gestational ages: 19-27 weeks (F1), 28-33 weeks (F2), and 34-38 weeks (F3). Fetal ECG was analyzed for mean heart rate along with 3 measures of autonomic variability of the fetal heart rate: interquartile range, standard deviation, and root mean square of the standard deviation of the heart rate (RMSSD), a measure of parasympathetic activity. During F1 and F2 periods, HLHS fetuses demonstrated significantly lower mean HR than controls (pHeart rate variability at F3, as measured by standard deviation, interquartile range, and RMSSD was lower in HLHS than controls (p<0.05). Other CHD subgroups showed a similar, though non-significant trend towards lower variability. Autonomic regulation in CHD fetuses differs from controls, with HLHS fetuses most markedly affected. Copyright © 2015 Elsevier Ltd. All rights reserved.

  12. [Neonatal tumours and congenital malformations].

    Science.gov (United States)

    Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

    2008-06-01

    The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

  13. Is there an anatomic basis for subvalvular right ventricular outflow tract obstruction after an arterial switch repair for complete transposition? A morphometric study and review

    NARCIS (Netherlands)

    Akiba, T.; Neirotti, R.; Becker, A. E.

    1993-01-01

    The study was initiated by reports on right ventricular outflow tract obstruction in complete transposition of the great arteries after an arterial switch repair. We investigated 39 heart specimens with native, unoperated transposition of the great arteries. Of these, 14 hearts had a ventricular

  14. 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

  15. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

    Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

    2006-01-01

    Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

  16. Anaesthetic management of patients with congenital heart disease presenting for non-cardiac surgery.

    Directory of Open Access Journals (Sweden)

    Mohindra R

    2002-01-01

    Full Text Available The incidence of congenital heart disease is about one percent of all live births in the United States. Treatment is being performed at a younger age and these children are showing improved survival. It is not unusual for children with congenital heart disease to present for non-cardiac surgery. Their management depends on their age, type of lesion, extent of corrective procedure, the presence of complications and other congenital anomalies. Each patient needs a detailed pre-operative evaluation to understand the abnormal anatomy and physiology, and related anaesthetic implications. No anaesthetic agent is an absolute contraindication, although drugs beneficial for one lesion may be detrimental for another. Regional anaesthesia has also been safely used in children with congenital heart disease. However the anaesthesiologist must have a detailed understanding of the pathophysiology of the lesion and the pharmacology of drugs being used to be able to provide safe anaesthesia for children with congenital heart disease.

  17. Implementation of Super-Encryption with Trithemius Algorithm and Double Transposition Cipher in Securing PDF Files on Android Platform

    Science.gov (United States)

    Budiman, M. A.; Rachmawati, D.; Jessica

    2018-03-01

    This study aims to combine the trithemus algorithm and double transposition cipher in file security that will be implemented to be an Android-based application. The parameters being examined are the real running time, and the complexity value. The type of file to be used is a file in PDF format. The overall result shows that the complexity of the two algorithms with duper encryption method is reported as Θ (n 2). However, the processing time required in the encryption process uses the Trithemius algorithm much faster than using the Double Transposition Cipher. With the length of plaintext and password linearly proportional to the processing time.

  18. 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

  19. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

    2003-09-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  20. Congenital extrahepatic portosystemic shunts

    International Nuclear Information System (INIS)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S.

    2003-01-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  1. Disease: H01786 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available 0610462 ... AUTHORS ... Hornung TS, Calder L ... TITLE ... Congenitally corrected transposition of the great arteries. ... JOURNAL ... Heart 96:1154-61 (2010) DOI:10.1136/hrt.2008.150532 ...

  2. Correction of the congenital heart malformations in adults

    OpenAIRE

    Sagatov I.Ye.; Kvashnin A.V.; Dosmailov N.S.; Ongarbayev K.O.

    2014-01-01

    В статье представлены непосредственные результаты хирургического лечения врожденных пороков сердца у взрослых пациентов. Ключевые слова: врожденный порок сердца, взрослые пациенты.

  3. Early versus late surgical correction in congenital diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    Alexandra Yunes

    2017-11-01

    Full Text Available Resumen INTRODUCCIÓN El momento de la reparación quirúrgica en pacientes con hernia diafragmática congénita ha sido un tema controvertido a lo largo de los años, y aún no existe un acuerdo sobre si es preferible una reparación inmediata o una cirugía tardía con estabilización preoperatoria. MÉTODOS Para responder esta pregunta utilizamos Epistemonikos, la mayor base de datos de revisiones sistemáticas en salud, la cual es mantenida mediante búsquedas en múltiples fuentes de información, incluyendo MEDLINE, EMBASE, Cochrane, entre otras. Extrajimos los datos desde las revisiones identificadas, reanalizamos los datos de los estudios primarios, realizamos un metanálisis, preparamos tablas de resumen de los resultados utilizando el método GRADE. RESULTADOS Y CONCLUSIONES Identificamos cuatro revisiones sistemáticas que en conjunto incluyen 38 estudios primarios, de los cuales, dos son ensayos aleatorizados. Concluimos que no está claro si la reparación quirúrgica inmediata en hernia diafragmática congénita aumenta la mortalidad o disminuye los días de hospitalización en comparación a una reparación tardía porque la certeza de la evidencia es muy baja.

  4. Anestesia en la transposición de los grandes vasos ANESTHESIA IN THE TRANSPOSITION OF THE GREAT VESSELS

    Directory of Open Access Journals (Sweden)

    Lincoln de la Parte Pérez

    2005-03-01

    Full Text Available La transposición de los grandes vasos es una cardiopatía compleja que se acompaña de una elevada mortalidad. Se conoce que el 45 % de los pacientes fallece durante el primer mes de vida y alrededor del 90 % antes del año. Las principales causas de la muerte son la hipoxia y la insuficiencia cardíaca. El desarrollo de las especialidades que trabajan en cirugía cardiovascular pediátrica ha permitido aumentar la supervivencia de estos niños, especialmente con el uso de prostaglandinas para mantener el ductus permeable, la técnica de Raskind-Miller ( septostomía de balón y una tendencia cada vez mayor a la corrección anatómica temprana (operación de Jatene en lugar de los clásicos procedimientos paliativos y las técnicas de corrección fisiológica de Senning y Mustard . Se presenta una revisión bibliográfica sobre los factores a tener en cuenta en el manejo anestésico de estos pacientes.The transposition of the great vessels is a complex heart disease accompanied of a high mortality. It is known that 45 % of the patients die during the first month of life and at about 90 % do it before being one year old. The main causes of death are hypoxia and heart failure. The development of the specialties working in pediatric cardiovascular surgery has allowed to increase the survival of these children, specially with the use of prostaglandins to maintain the ductus permeable, the Raskind-Miller's technique (balloon septostomy, and an increasing trend towards an early anatomical correction (Jatene's operation to replace the classical palliative procedures and Senning and Mustartd's techniques of physiological correction. A bibliographic review of the factors to be taken into account in the anesthetic management of these patients is presented.

  5. Transpositions significatives

    DEFF Research Database (Denmark)

    Lund, Hans Peter

    Bogen er en kongresberetning fra symposiet L'Italie dans l'imaginarie romantique med litterære bidrag om Chateaubriand, Goethe, Mme de Staël, Stendhal, Andersen; om kritikere og historikere som Ginguené, Sismondi og Michelet, om malere som Granet og Delacroix og om komponisten Rossini.......Bogen er en kongresberetning fra symposiet L'Italie dans l'imaginarie romantique med litterære bidrag om Chateaubriand, Goethe, Mme de Staël, Stendhal, Andersen; om kritikere og historikere som Ginguené, Sismondi og Michelet, om malere som Granet og Delacroix og om komponisten Rossini....

  6. Evaluation of knowledge-based reconstruction for magnetic resonance volumetry of the right ventricle after arterial switch operation for dextro-transposition of the great arteries.

    Science.gov (United States)

    Nyns, Emile C A; Dragulescu, Andreea; Yoo, Shi-Joon; Grosse-Wortmann, Lars

    2016-09-01

    Right ventricular (RV) volume and function evaluation is essential in the follow-up of patients after arterial switch operation (ASO) for dextro-transposition of the great arteries (d-TGA). Cardiac magnetic resonance (CMR) imaging using the Simpson's method is the gold-standard for measuring these parameters. However, this method can be challenging and time-consuming, especially in congenital heart disease. Knowledge-based reconstruction (KBR) is an alternative method to derive volumes from CMR datasets. It is based on the identification of a finite number of anatomical RV landmarks in various planes, followed by computer-based reconstruction of the endocardial contours by matching these landmarks with a reference library of representative RV shapes. The purpose of this study was to evaluate the feasibility, accuracy, reproducibility and labor intensity of KBR for RV volumetry in patients after ASO for d-TGA. The CMR datasets of 17 children and adolescents (males 11, median age 15) were studied for RV volumetry using both KBR and Simpson's method. The intraobserver, interobserver and intermethod variabilities were assessed using Bland-Altman analyses. Good correlation between KBR and Simpson's method was noted. Intraobserver and interobserver variability for KBR showed excellent agreement. Volume and function assessment using KBR was faster when compared with the Simpson's method (5.1 ± 0.6 vs. 6.7 ± 0.9 min, p < 0.001). KBR is a feasible, accurate, reproducible and fast method for measuring RV volumes and function derived from CMR in patients after ASO for d-TGA.

  7. Right ventricular function and N-terminal pro-brain natriuretic peptide levels in adult patients with simple dextro-transposition of the great arteries.

    Science.gov (United States)

    Martínez-Quintana, Efrén; Marrero-Negrín, Natalia; Gopar-Gopar, Silvia; Rodríguez-González, Fayna

    2017-06-01

    Dextro-transposition of the great arteries (d-TGA) patients is at high risk of developing right ventricular dysfunction and tricuspid regurgitation in adulthood. Determining the relation between echocardiographic parameters, N-terminal pro-brain natriuretic peptide (NT-pro-BNP) levels and the New York Heart Association (NYHA) functional class may help determining the best time to operate them. Patients with simple d-TGA operated in infancy with an atrial switch procedure (Mustard or Senning operation) were followed up in our Adult Congenital Heart Disease Unit. Analytical, echocardiographic, and clinical parameters were determined to evaluate the correlation between right echocardiographic ventricular function, NT-pro-BNP levels, and NYHA functional class. Twenty-four patients with d-TGA were operated in infancy of whom 17 alive patients had simple d-TGA. Nine patients had NT-pro-BNP levels lower than 200 pg/mL and eight patients were above 200 pg/mL. Patients with lower hemoglobin concentration, higher right ventricular diameter or under diuretic treatment showed significant higher NT-pro-BNP levels (above 200 pg/dL). The Spearman test showed a positive correlation between basal right ventricular diameter and tricuspid regurgitation with pro NT BNP levels (correlation coefficient of .624; P=.017 and .490; P=.046, respectively) and a negative correlation with the right ventricle fractional area change (-.508, P=.045). No correlation was seen between NT-pro-BNP levels and the rest of echocardiographic parameters or the NYHA functional class. NT-pro-BNP levels showed a positive correlation with basal right ventricular diameter and tricuspid regurgitation but not with NYHA association functional class in d-TGA patients. © 2017, Wiley Periodicals, Inc.

  8. Fetal chromosome abnormalities and congenital malformations: an ...

    African Journals Online (AJOL)

    The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

  9. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

  10. General Concepts in Adult Congenital Heart Disease.

    Science.gov (United States)

    Mutluer, Ferit Onur; Çeliker, Alpay

    2018-01-20

    Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face.

  11. General Concepts in Adult Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Ferit Onur Mutluer

    2018-02-01

    Full Text Available Congenital heart disease in adults (adult congenital heart disease is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face

  12. Congenital pyriform aperture stenosis

    International Nuclear Information System (INIS)

    Osovsky, Micky; Aizer-Danon, Anat; Horev, Gadi; Sirota, Lea

    2007-01-01

    Nasal airway obstruction is a potentially life-threatening condition in the newborn. Neonates are obligatory nasal breathers. The pyriform aperture is the narrowest, most anterior bony portion of the nasal airway, and a decrease in its cross-sectional area will significantly increase nasal airway resistance. Congenital nasal pyriform aperture stenosis (CNPAS) is a rare, unusual form of nasal obstruction. It should be considered in the differential diagnosis of any neonate or infant with signs and symptoms of upper airway compromise. It is important to differentiate this level of obstruction from the more common posterior choanal stenosis or atresia. CNPAS presents with symptoms of nasal airway obstruction, which are often characterized by episodic apnea and cyclical cyanosis. (orig.)

  13. Characterizing congenital amusia.

    Science.gov (United States)

    Stewart, Lauren

    2011-04-01

    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of music and other domains, such as language. The present article considers findings concerning pitch discrimination, pitch memory, contour processing, experiential aspects of music listening in amusia, and emerging evidence concerning the neurobiology of the disorder. A simplified model of melodic processing is outlined, and possible loci of the cognitive deficit are discussed.

  14. Neurobiology of Congenital Amusia.

    Science.gov (United States)

    Peretz, Isabelle

    2016-11-01

    The past decade of research has provided compelling evidence that musical engagement is a fundamental human trait, and its biological basis is increasingly scrutinized. In this endeavor, the detailed study of individuals who have musical deficiencies is instructive because of likely neurogenetic underpinnings. Such individuals have 'congenital amusia', an umbrella term for lifelong musical disabilities that cannot be attributed to intellectual disability, lack of exposure, or brain damage after birth. Key points are reviewed here that have emerged during recent years regarding the neurobiology of the disorder, focusing on the importance of recurrent processing between the right inferior frontal cortex and the auditory cortex for conscious monitoring of musical pitch, and how this relates to developmental cognitive disorders in general. Copyright © 2016 Elsevier Ltd. All rights reserved.

  15. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-01-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

  16. 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.

  17. A 5-methylcytosine DNA glycosylase/lyase demethylates the retrotransposon Tos17 and promotes its transposition in rice

    KAUST Repository

    La, Honggui; Ding, Bo; Mishra, Gyan Prakash; Zhou, Bo; Yang, Hongmei; Bellizzi, Maria Del Rosario; Chen, Songbiao; Meyers, Blake C.; Peng, Zhaohua; Zhu, Jian-Kang; Wang, Guoliang

    2011-01-01

    DNA 5-methylcytosine (5-meC) is an important epigenetic mark for transcriptional gene silencing in many eukaryotes. In Arabidopsis, 5-meC DNA glycosylase/lyases actively remove 5-meC to counter-act transcriptional gene silencing in a locus-specific manner, and have been suggested to maintain the expression of transposons. However, it is unclear whether plant DNA demethylases can promote the transposition of transposons. Here we report the functional characterization of the DNA glycosylase/lyase DNG701 in rice. DNG701 encodes a large (1,812 amino acid residues) DNA glycosylase domain protein. Recombinant DNG701 protein showed 5-meC DNA glycosylase and lyase activities in vitro. Knockout or knockdown of DNG701 in rice plants led to DNA hypermethylation and reduced expression of the retrotransposon Tos17. Tos17 showed less transposition in calli derived from dng701 knockout mutant seeds compared with that in wild-type calli. Overexpression of DNG701 in both rice calli and transgenic plants substantially reduced DNA methylation levels of Tos17 and enhanced its expression. The overexpression also led to more frequent transposition of Tos17 in calli. Our results demonstrate that rice DNG701 is a 5-meC DNA glycosylase/lyase responsible for the demethylation of Tos17 and this DNA demethylase plays a critical role in promoting Tos17 transposition in rice calli.

  18. An O([Formula: see text]) algorithm for sorting signed genomes by reversals, transpositions, transreversals and block-interchanges.

    Science.gov (United States)

    Yu, Shuzhi; Hao, Fanchang; Leong, Hon Wai

    2016-02-01

    We consider the problem of sorting signed permutations by reversals, transpositions, transreversals, and block-interchanges. The problem arises in the study of species evolution via large-scale genome rearrangement operations. Recently, Hao et al. gave a 2-approximation scheme called genome sorting by bridges (GSB) for solving this problem. Their result extended and unified the results of (i) He and Chen - a 2-approximation algorithm allowing reversals, transpositions, and block-interchanges (by also allowing transversals) and (ii) Hartman and Sharan - a 1.5-approximation algorithm allowing reversals, transpositions, and transversals (by also allowing block-interchanges). The GSB result is based on introduction of three bridge structures in the breakpoint graph, the L-bridge, T-bridge, and X-bridge that models goodreversal, transposition/transreversal, and block-interchange, respectively. However, the paper by Hao et al. focused on proving the 2-approximation GSB scheme and only mention a straightforward [Formula: see text] algorithm. In this paper, we give an [Formula: see text] algorithm for implementing the GSB scheme. The key idea behind our faster GSB algorithm is to represent cycles in the breakpoint graph by their canonical sequences, which greatly simplifies the search for these bridge structures. We also give some comparison results (running time and computed distances) against the original GSB implementation.

  19. Inferior Alveolar Nerve Lateralization and Transposition for Dental Implant Placement. Part I: a Systematic Review of Surgical Techniques

    Directory of Open Access Journals (Sweden)

    Boris Abayev

    2015-03-01

    Full Text Available Objectives: The purpose of this first part of a two-part series was to review the literature concerning the indications, contraindications, advantages, disadvantages and surgical techniques of the lateralization and transposition of the inferior alveolar nerve, followed by the placement of an implant in an edentulous atrophic posterior mandible. Material and Methods: A comprehensive review of the current literature was conducted according to the PRISMA guidelines by accessing the NCBI PubMed and PMC database, academic sites and books. The articles were searched from January 1997 to July 2014 and comprised English-language articles that included adult patients between 18 and 80 years old with minimal residual bone above the mandibular canal who had undergone inferior alveolar nerve (IAN repositioning with a minimum 6 months of follow-up. Results: A total of 16 studies were included in this review. Nine were related to IAN transposition, 4 to IAN lateralization and 3 to both transposition and lateralization. Implant treatment results and complications were presented. Conclusions: Inferior alveolar nerve lateralization and transposition in combination with the installation of dental implants is sometimes the only possible procedure to help patients to obtain a fixed prosthesis, in edentulous atrophic posterior mandibles. With careful pre-operative surgical and prosthetic planning, imaging, and extremely precise surgical technique, this procedure can be successfully used for implant placement in edentulous posterior mandibular segments.

  20. A 5-methylcytosine DNA glycosylase/lyase demethylates the retrotransposon Tos17 and promotes its transposition in rice

    KAUST Repository

    La, Honggui

    2011-09-06

    DNA 5-methylcytosine (5-meC) is an important epigenetic mark for transcriptional gene silencing in many eukaryotes. In Arabidopsis, 5-meC DNA glycosylase/lyases actively remove 5-meC to counter-act transcriptional gene silencing in a locus-specific manner, and have been suggested to maintain the expression of transposons. However, it is unclear whether plant DNA demethylases can promote the transposition of transposons. Here we report the functional characterization of the DNA glycosylase/lyase DNG701 in rice. DNG701 encodes a large (1,812 amino acid residues) DNA glycosylase domain protein. Recombinant DNG701 protein showed 5-meC DNA glycosylase and lyase activities in vitro. Knockout or knockdown of DNG701 in rice plants led to DNA hypermethylation and reduced expression of the retrotransposon Tos17. Tos17 showed less transposition in calli derived from dng701 knockout mutant seeds compared with that in wild-type calli. Overexpression of DNG701 in both rice calli and transgenic plants substantially reduced DNA methylation levels of Tos17 and enhanced its expression. The overexpression also led to more frequent transposition of Tos17 in calli. Our results demonstrate that rice DNG701 is a 5-meC DNA glycosylase/lyase responsible for the demethylation of Tos17 and this DNA demethylase plays a critical role in promoting Tos17 transposition in rice calli.

  1. Comparison of Total Arch and Partial Arch Transposition During Hybrid Endovascular Repair for Aortic Arch Disease.

    Science.gov (United States)

    Kang, W C; Ko, Y-G; Oh, P C; Shin, E K; Park, C-H; Choi, D; Youn, Y N; Lee, D Y

    2016-08-01

    Total arch transposition (TAT) during hybrid endovascular repair for aortic arch disease is believed to allow a better landing zone, but also to be associated with higher peri-operative mortality than partial arch transposition (PAT). Information on this issue is limited. This study was a retrospective analysis. All 53 consecutive patients with aortic arch disease (41 males, mean age 65.0 years) who underwent hybrid endovascular repair with TAT (zone 0, n=20) or PAT (zone 1 or 2, n=33) from 2008 to 2014 were analyzed retrospectively. The peri-operative and late outcomes of these two groups were compared. Baseline characteristics, including EuroSCORE II results, were similar in the two groups. After procedures, peri-operative mortalities and stroke rates were similar in the two groups (5.0% vs. 9.1%, p=1.000, and 10.0% vs. 6.1%, p=.627). Interestingly, all four strokes occurred in patients with a type III aortic arch irrespective of transposition type. Primary success rates (80.0% vs. 69.7%, p=.527) and type I endoleak incidences (20.0% vs. 27.3%, p=.744) were not significantly different. During follow up (mean duration 36.9 months), overall survival (89.7% vs. 87.4% at 1 year and 89.7% vs. 79.3% at 3 years; p=.375) and re-intervention free survival rates (78.6% vs. 92.0% at 1 year; 72.0% vs. 62.2% at 3 years, p=.872) were similar in the two groups. Morbidity and mortality were high within the first year of hybrid endovascular therapy for aortic arch disease, implying that candidates for hybrid procedures need to be selected carefully. Hybrid endovascular repair with TAT was found to have peri-operative mortality, stroke, and long-term survival rates comparable with PAT, so hybrid endovascular repair may be considered, irrespective of type of arch reconstruction, when clinically indicated. Copyright © 2016 European Society for Vascular Surgery. Published by Elsevier Ltd. All rights reserved.

  2. HERCA Action Plan in relation to the transposition and implementation of Directive 2013/59/Euratom (Euratom BSS)

    International Nuclear Information System (INIS)

    Fremout, An; Vanderlinck, Annie; Berlamont, Jolien; Van Bladel, Lodewijk; Petrova, Karla; Ulbak, Kaare; Mundigl, Stefan; ); Markkanen, Mika; Godet, Jean-Luc; Tran-Thien, Vivien; Koch, Isabell Christin; Hackstein, Matthias; Griebel, Juergen; Kamenopoulou, Vasiliki; Fennel, Stephan; Ryan, Tom; Schreiner, Alexandra; Majerus, Patrick; Vermeulen, Ton; Holo, Eldri; Wiklund, Asa; RYF, Salome; Thomas, Gareth; Wellens, Rob; Ebdon-Jackson, Steve

    2014-10-01

    On 5 December 2013, the Council of the European Union adopted Council Directive 2013/59/Euratom laying down basic safety standards for protection against the dangers arising from exposure to ionising radiation.1 Member States have to transpose the new Basic Safety Standards Directive (BSS Directive) into their national legal systems by 6 February 2018 at the latest. At the 13. meeting of the Board of HERCA (BoH) in Vilnius in June 2014, a proposal to establish a special Task Force (TF) to make proposals in relation to HERCA activities in support of the transposition and implementation of the new Euratom BSS Directive was agreed. The BSS-TF was established, commenced its work on the basis of a 'non-questionnaire' and a discussion document. It met on one occasion on 7 October 2014 and agreed an action plan for consideration by the BoH. The agreed action plan proposal was approved by the BoH on the occasion of its 14. meeting in Stockholm, on 21-22 October 2014. The approved Action Plan covers the following areas: - Identification of HERCA's role in the transposition of the new Euratom BSS; - Definition of actions for HERCA in relation to the transposition of the BSS; - Coordination between HERCA and the EC in relation to BSS transposition activities. The Actions identified relate to several subject areas: Emergency preparedness and response; Medical exposures; Radon; Non-medical imaging exposures; RPE/RPO; General exchange of information. HERCA is a voluntary association, in which the Heads of European Radiological Protection Competent Authorities work together in order to identify common issues and propose practical solutions for these issues. It has no statutory role in relation to the transposition of the Euratom BSS. However, additional work by HERCA can support the transposition process as indicated in the Action Plan. Uniform transposition or implementation in the Member States is not an objective of HERCA activities. Clearly it will remain a matter for

  3. Congenital dislocation of knee with ipsilateral developmental dysplasia of hip

    Directory of Open Access Journals (Sweden)

    Sameer Kakar

    2017-01-01

    Full Text Available We present a rare case of a newborn having congenital knee dislocation (CDK with ipsilateral developmental dysplasia of hip (DDH. This case report shows how abnormal intrauterine pressure leads to dislocation of various joints in utero. We managed this conservatively with Pavlik Harness for DDH and serial corrective casting with manipulation for CDK with a satisfactory result after follow-up of 6 months.

  4. Congenital broncho-oesophageal fistula

    African Journals Online (AJOL)

    1983-04-09

    Apr 9, 1983 ... Rigid bronchoscopy performed under general anaesthesia .... Blackburn WR, Armour)' RA. Congenital esophago-pulmonary fistulas without esophageal atresia: an analysis of 260 fistulas in infants, children and adults.

  5. Congenital Heart Defects (For Parents)

    Science.gov (United States)

    ... to be associated with genetic disorders, such as Down syndrome . But the cause of most congenital heart defects isn't known. While they can't be prevented, many treatments are available for the defects and related health ...

  6. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... Topic: Hypoglycemia Health Topic: Metabolic Disorders Genetic and Rare Diseases Information Center (1 link) Congenital hyperinsulinism Educational Resources (7 links) Boston Children's Hospital: Hypoglycemia and Low Blood Sugar in Children Cook Children's Hospital (PDF) Disease InfoSearch: ...

  7. CHRNE Mutation and Congenital Myasthenia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2009-01-01

    Full Text Available The CHRNE e1293insG mutation was identified in 14 (60% of 23 North African families with an early onset form of congenital myasthenic syndrome studied at centers in France, Tunisia, Algeria, and UK.

  8. Imaging findings in congenital hepatic fibrosis

    International Nuclear Information System (INIS)

    Akhan, Okan; Karaosmanoglu, Ali Devrim; Ergen, Bilge

    2007-01-01

    Congenital hepatic fibrosis (CHF) is a rare congenital multisystemic disorder, mostly inherited in autosomal recessive fashion, primarily affecting renal and hepatobiliary systems. Main underlying process of the disease is the malformation of the ductal plate, the embryological precursor of the biliary system, and secondary biliary strictures and periportal fibrosis ultimately leading to portal hypertension. The natural course of the disease is highly variable ranging from minimally symptomatic disease to true cirrhosis of the liver. However, in most patients the most common manifestations of the diseases that are related to portal hypertension, particularly splenomegaly and bleeding varices. Many other disease processes may co-exist with the disease including Caroli's disease, choledochal cysts and autosomal recessive polycystic kidney disease (ARPKD) reflecting the mulstisystemic nature of the disease. The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process. Although, conventional method of diagnosis of CHF is the liver biopsy the advent of imaging technologies and modalities, today, may permit the correct diagnosis in a non-invasive manner. Characteristic imaging features are generally present and recognition of these findings may obviate liver biopsy while preserving the diagnostic accuracy. In this article, it is aimed to increase the awareness of the practising radiologists to the imaging findings of this uncommon clinical disorder and trail the blaze for future articles relating to this issue

  9. Imaging findings in congenital hepatic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Akhan, Okan [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)]. E-mail: akhano@tr.net; Karaosmanoglu, Ali Devrim [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey); Ergen, Bilge [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)

    2007-01-15

    Congenital hepatic fibrosis (CHF) is a rare congenital multisystemic disorder, mostly inherited in autosomal recessive fashion, primarily affecting renal and hepatobiliary systems. Main underlying process of the disease is the malformation of the ductal plate, the embryological precursor of the biliary system, and secondary biliary strictures and periportal fibrosis ultimately leading to portal hypertension. The natural course of the disease is highly variable ranging from minimally symptomatic disease to true cirrhosis of the liver. However, in most patients the most common manifestations of the diseases that are related to portal hypertension, particularly splenomegaly and bleeding varices. Many other disease processes may co-exist with the disease including Caroli's disease, choledochal cysts and autosomal recessive polycystic kidney disease (ARPKD) reflecting the mulstisystemic nature of the disease. The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process. Although, conventional method of diagnosis of CHF is the liver biopsy the advent of imaging technologies and modalities, today, may permit the correct diagnosis in a non-invasive manner. Characteristic imaging features are generally present and recognition of these findings may obviate liver biopsy while preserving the diagnostic accuracy. In this article, it is aimed to increase the awareness of the practising radiologists to the imaging findings of this uncommon clinical disorder and trail the blaze for future articles relating to this issue.

  10. Radiological findings after transposition of the stomach for replacement of long oesophageal segments

    Energy Technology Data Exchange (ETDEWEB)

    Lechner, G.; Roka, R.; Niederle, B.; Waneck, R.

    1982-10-01

    Thirty-seven patients, in whom the stomach had been transposed in order to replace a long segment of the oesophagus, were studied. Radiologically important early complications and the late results of this surgical technique were correlated. Twenty-five patients were observed radiologically and clinically for a period of three to 20 months. The study was directed at the morphology of the transposed stomach and of the anastomosis, and particularly at the problem of gastro-oesophageal reflux. Knowledge of the operation site is essential for evaluating the transplant (pleura defect). Radiological examination is the most suitable method for evaluating the cervical extra-thoracic anastomosis in the early post-operative phase (six to ten days). It is also effective at a later stage for the early recognition of fibrotic stenosis which will require treatment. An attempt has been made to define an ideal situation following gastric transposition which will usually correspond with a good clinical result.

  11. 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.

  12. Publisher Correction

    DEFF Research Database (Denmark)

    Stokholm, Jakob; Blaser, Martin J.; Thorsen, Jonathan

    2018-01-01

    The originally published version of this Article contained an incorrect version of Figure 3 that was introduced following peer review and inadvertently not corrected during the production process. Both versions contain the same set of abundance data, but the incorrect version has the children...

  13. Publisher Correction

    DEFF Research Database (Denmark)

    Flachsbart, Friederike; Dose, Janina; Gentschew, Liljana

    2018-01-01

    The original version of this Article contained an error in the spelling of the author Robert Häsler, which was incorrectly given as Robert Häesler. This has now been corrected in both the PDF and HTML versions of the Article....

  14. Correction to

    DEFF Research Database (Denmark)

    Roehle, Robert; Wieske, Viktoria; Schuetz, Georg M

    2018-01-01

    The original version of this article, published on 19 March 2018, unfortunately contained a mistake. The following correction has therefore been made in the original: The names of the authors Philipp A. Kaufmann, Ronny Ralf Buechel and Bernhard A. Herzog were presented incorrectly....

  15. 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.

  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 coronary artery fistula

    International Nuclear Information System (INIS)

    Oh, Yeon Hee; Kim, Hong; Zeon, Seoc Kil; Suh, Soo Jhi

    1986-01-01

    Congenital coronary artery fistula (CCAF) is communication of a coronary artery or its main branch with one of the atria or ventricles, the coronary sinus, the superior vena cava, or the pulmonary artery. In Korean peoples, only 4 cases of the CCAF were reported as rare as worldwide and authors want to report another case of CCAF, confirmed by operation. 10-year-old girl shows a fistula between sinus node artery of the right coronary artery and right atrium on root aortogram with left-to-right shunt and Qp/Qs=1.58, in which simple ligation of the sinus node artery from right coronary artery was performed. All of the 5 Korean CCAF (4 were previously reported and 1 of authors) were originated from right coronary artery, and of which 4 were opening into right ventricle and 1 of authors were into right atrium. Associated cardiac anomaly was noted in only 1 case as single coronary artery. Ages were from 9 months of age to 10 years old and no adult left case were found. 3 were female and 2 were male patients.

  18. Congenital nephrotic syndrome.

    Science.gov (United States)

    Hamed, Radi Ma

    2003-01-01

    The congenital nephrotic syndrome (CNS) is an uncommon disorder with onset of the nephrotic syndrome usually in the first three months of life. Several different diseases may cause the syndrome. These may be inherited, sporadic, acquired or part of a general malformation syndrome. The clinical course is marked by failure to thrive, recurrent life threatening bacterial infections, and early death from sepsis and/or uremia. A characteristic phenotype may be seen in children with CNS. The majority of reported cases of CNS are of the Finnish type (CNF). Although the role of the glomerular basement membrane has been emphasized as the barrier for retaining plasma proteins, recent studies have clearly shown that the slit diaphragm is the structure most likely to be the barrier in the glomerular capillary wall. The gene (NPHS1) was shown to encode a novel protein that was termed nephrin, due to its specific location in the kidney filter barrier, where it seems to form a highly organized filter structure. Nephrin is a transmembrane protein that probably forms the main building block of an isoporous zipper-like slit diaphragm filter structure. Defects in nephrin lead to the abnormal or absent slit diaphragm resulting in massive proteinuria and renal failure.

  19. Congenital cystic lung malformations

    International Nuclear Information System (INIS)

    Stoever, B.; Scheer, I.; Bassir, C.; Chaoui, R.; Henrich, W.; Schwabe, M.; Wauer, R.

    2006-01-01

    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.)

  20. 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.

  1. Diagnosis and management of Transposition of great arteries within a pediatric cardiology network with the aid of telemedicine: A case report from Brazil.

    Science.gov (United States)

    Galdino, Millena M; Hazin, Sheila Mv; de Araújo, Juliana Ss; Regis, Cláudio T; Rodrigues, Klecida N; Mourato, Felipe A; Mattos, Sandra da Silva

    2016-04-01

    We present a case of a newborn from a remote, underserved area in the inland of Paraíba, a state from Northeast Brazil. She presented with clinical cyanosis at birth. With the aid of telemedicine, a neonatologist under online cardiology supervision performed a screening echocardiogram. The session established the diagnosis of simple transposition of the great vessels in the baby's first few hours of life. During the same telemedicine session, the necessary arrangements for transferal to a larger maternity center took place. The baby was maintained stable on prostaglandins and was subsequently transferred to a tertiary cardiac center in the neighboring State, Pernambuco. She underwent anatomical correction at day 10, presented no surgical or postoperative complications, and was discharged home at the age of 21 days. She is now over three years old and continues her follow-up care mostly at her hometown, with local pediatricians under online supervision by a cardiologist in a virtual outpatient clinic. The establishment of a Pediatric Cardiology Network, with the aid of telemedicine, can produce a major impact on the access to specialized health care for poor regions of developing countries. © The Author(s) 2015.

  2. Congenital Heart Disease and Impacts on Child Development

    Directory of Open Access Journals (Sweden)

    Mariana Alievi Mari

    2016-02-01

    Full Text Available Abstract Objective: To evaluate the child development and evaluate a possible association with the commitment by biopsychosocial factors of children with and without congenital heart disease. Methods: Observational study of case-control with three groups: Group 1 - children with congenital heart disease without surgical correction; Group 2 - children with congenital heart disease who underwent surgery; and Group 3 - healthy children. Children were assessed by socio-demographic and clinical questionnaire and the Denver II Screening Test. Results: One hundred and twenty eight children were evaluated, 29 in Group 1, 43 in Group 2 and 56 in Group 3. Of the total, 51.56% are girls and ages ranged from two months to six years (median 24.5 months. Regarding the Denver II, the children with heart disease had more "suspicious" and "suspect/abnormal" ratings and in the group of healthy children 53.6% were considered with "normal" development (P≤0.0001. The biopsychosocial variables that were related to a possible developmental delay were gender (P=0.042, child's age (P=0.001 and income per capita (P=0.019. Conclusion: The results suggest that children with congenital heart disease are likely to have a developmental delay with significant difference between children who have undergone surgery and those awaiting surgery under clinical follow-up.

  3. Neuroimaging findings of congenital Zika virus infection: a pictorial essay.

    Science.gov (United States)

    Zare Mehrjardi, Mohammad; Poretti, Andrea; Huisman, Thierry A G M; Werner, Heron; Keshavarz, Elham; Araujo Júnior, Edward

    2017-03-01

    Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses. Postnatal (acquired) ZIKV infection usually has an asymptomatic or mildly symptomatic course, while prenatal (congenital) ZIKV infection has a more severe course and may cause severe brain anomalies that are described as congenital Zika syndrome. In this pictorial essay, we aim to illustrate the prenatal and postnatal neuroimaging findings that may be seen in fetuses and neonates with congenital Zika syndrome, and will discuss possible radiological differential diagnoses. A detailed knowledge of these findings is paramount for an early correct diagnosis, prognosis determination, and counseling of the affected children and families.

  4. Corrective Jaw Surgery

    Medline Plus

    Full Text Available ... out more. Corrective Jaw Surgery Corrective Jaw Surgery Orthognathic surgery is performed to correct the misalignment of jaws ... out more. Corrective Jaw Surgery Corrective Jaw Surgery Orthognathic surgery is performed to correct the misalignment of jaws ...

  5. Analysis of visual outcomes and complications following levator resection for unilateral congenital blepharoptosis without strabismus

    Directory of Open Access Journals (Sweden)

    Shu-Ya Wu

    2013-08-01

    Full Text Available Background: It is challenging to manage congenital blepharoptosis, especially unilateral, because symmetry is difficult to achieve under general anesthesia and age at which the ptosis should be corrected is still controversial. The aim of our study is to analyze visual and surgical outcomes after levator resection for unilateral congenital blepharoptosis. Methods: Charts of patients with unilateral congenital blepharoptosis who underwent levator resection at the Chang Gung Memorial Hospital from 1991 through 2000 were reviewed. The resultant database was interrogated for demographic data, severity, surgical timing, visual outcomes, surgical outcomes, and complications. Results: Eighty-four children underwent levator resection for unilateral congenital blepharoptosis: 16.7% of these patients had amblyopia and 84.5% had surgical success following levator resection. Severe ptosis (p = 0.0288, p < 0.05 and surgery at less than 2 years of age (p = 0.0126, p < 0.05 were the important factors contributing to surgical failure. Age at surgery (p = 0.0058, p < 0.01 and amblyogenic ametropia (p = 0.0001, p < 0.001 were found to be significantly associated with the postoperative visual results. Conclusion: The levator resection provides satisfactory results both in function and cosmesis in patients with unilateral congenital blepharoptosis. Amblyogenic ametropia is the leading cause of amblyopia in the patients with unilateral isolated congenital blepharoptosis. However, patients with unilateral congenital blepharoptosis should have cycloplegic refraction as early as possible, and their visual status monitored until visual maturity.

  6. [Congenital cardiopathy and cerebral abscess].

    Science.gov (United States)

    Paixão, A; de Andrade, F F; Sampayo, F

    1989-01-01

    During 1986 the authors came across two cases of brain abscess among children with congenital heart disease followed at the Pediatric Cardiology Service and decided to evaluate their global experience on the subject. In a retrospective study of 860 infants and children with cyanotic congenital heart disease and final diagnosis, there were four cases complicated with brain abscess. The following items were evaluated: prevalence of the complication, type of congenital heart disease, date and age at the diagnosis of brain abscess, diagnostic methods, neurosurgical treatment and results. The main findings were: all patients were above two years of age and had noncorrected cyanotic congenital heart disease belonging to the classic high risk group; the first two cases had been treated in other institutions and only scanty information was available; two recent cases had early diagnosis on CAT scan followed by neurosurgical treatment. All children survived. brain abscess is a rare but severe complication occurring in patients with noncorrected cyanotic congenital heart disease above two years of age; whenever prevention turns impossible, early diagnosis and treatment provide good short term and long term results. A multidisciplinar approach with full cooperation is advocated.

  7. Spec Rekindled-A Simple Torque Correction Mechanics for Transposed Teeth in Conjunction with Pre-adjusted Edgewise Appliance System.

    Science.gov (United States)

    Singh, Harpreet; Maurya, Raj Kumar; Thakkar, Surbhi

    2016-12-01

    Complete transposition of teeth is a rather rare phenomenon. After correction of transposed and malaligned lateral incisor and canine, attainment of appropriate individual antagonistic tooth torque is indispensable, which many orthodontists consider to be a herculean task. Here, a novel method is proposed which demonstrates the use of Spec reverse torquing auxillary as an effective adjunctive aid in conjunction with pre-adjusted edgewise brackets.

  8. Magnetic resonance imaging of congenital heart disease

    International Nuclear Information System (INIS)

    Fletcher, B.D.; Jacobstein, M.D.

    1988-01-01

    Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity

  9. 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 ...

  10. CCT and sonographic findings in congenital craniopharyngioma

    Energy Technology Data Exchange (ETDEWEB)

    Helmke, K.; Hausdorf, G.; Moehrs, D.; Laas, R.

    1984-11-01

    In a case of congenital craniopharyngioma results of the sonographic and CCT examinations are reported and compared with postmortem macroscopic cuts. Comparison is made of clinical data from six cases with congenital craniopharyngioma as reported in the literature.

  11. CCT and sonographic findings in congenital craniopharyngioma

    International Nuclear Information System (INIS)

    Helmke, K.; Hausdorf, G.; Moehrs, D.; Laas, R.

    1984-01-01

    In a case of congenital craniopharyngioma results of the sonographic and CCT examinations are reported and compared with postmortem macroscopic cuts. Comparison is made of clinical data from six cases with congenital craniopharyngioma as reported in the literature. (orig.)

  12. Genetics Home Reference: severe congenital neutropenia

    Science.gov (United States)

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... Genetic Testing Registry: Severe congenital neutropenia 2, autosomal dominant Genetic Testing Registry: Severe congenital neutropenia 3, autosomal ...

  13. Genetics Home Reference: congenital dyserythropoietic anemia

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions CDA Congenital dyserythropoietic anemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  14. Cardiac magnetic resonance imaging in patients with congenital heart disease; Kardiale MRT bei Patienten mit angeborenen Herzfehlern

    Energy Technology Data Exchange (ETDEWEB)

    Kreitner, Karl-Friedrich [Mainz Univ. Universitaetsmedizin Mainz (Germany). Klinik und Poliklinik fuer Diagnostische und Interventionelle Radiologie; Kaufmann, Lilly [Mainz Univ. (Germany); Sorantin, Erich [Univ.-Klinik fuer Radiologie, Graz (Austria). Klinische Abt. fuer Kinderradiologie

    2015-06-15

    The prevalence of congenital heart disease (CHD) is around 10 per 1000 live births in Germany. More than 90 % of these patients will survive into adulthood due to improvements in therapy. The classification of CHD may be based according to the anatomic structures involved, to the presence of an intracardiac shunt, the presence of a cyanosis and the intensity of therapy and complexity of the disease. Nearly half of all patients with CHD suffer from an intracardiac shunt, whereas complex cases such as patients with a tetralogy of Fallot or transposition of the great arteries are much more rare. Cardiac magnetic resonance imaging plays an important role in the work-up and follow-up of patients with CHD, especially after infancy and childhood. Depending on the abnormality in question, a multiparametric examination protocol is mandatory. Knowledge of operative procedures and findings of other imaging modalities help to optimize examination and time needed for it.

  15. 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...

  16. Diagnosis of fetal congenital limb deformities by MRI

    International Nuclear Information System (INIS)

    Dong Suzhen; Zhu Ming; Zhong Yumin; Zhang Hong; Mao Jianping

    2008-01-01

    Objective: To explore the diagnostic value of MRI on fetal congenital limb deformities. Methods: Sixteen pregnant women, aged from 22 to 40 years (average 29 years) and with gestation from 22 to 39 weeks (average 29 weeks) were studied with a 1.5 T superconductive MR unit within 24 to 48 hours after ultrasound studies. Acquisitions consisted of coronal, sagittal, and axial slices relative to the fetal brain, spine, thorax, abdomen, especially limbs using 2D FIESTA sequences. Prenatal US and MR imaging findings were compared with postnatal diagnoses (4 fetuses) or autopsy (12 pregnant women, 13 fetuses). Postnatal evaluation included US, MR imaging, computed tomography, and physical examination. Results: Of the sixteen pregnant women (15 with a single fetus and 1 with twin fetuses), 17 fetuses were found. Those limb deformities of sixteen pregnant women included congenital both upper extremities amelia (1 case), sirenomelia sequence (1 case), micromelia (5 cases, 1 of which were twins), bilateral clenched hands (2 cases), right polydactyly (1 case), simple right ectrodactyly (1 case), right dactylolysis(1 case), simple club foot (2 cases), hydrocele spinalis with club foot (2 cases), 1 of the 2 cases with bilateral clinodactyly. In 14 of 16 cases, the diagnoses established by MR imaging were correct when compared with postnatal diagnosis, and prenatal MR diagnosis was inaccurate in 2 cases. Conclusion: Prenatal MRI is effective in the assessment of congenital limb deformities of fetuses, it can yield information additional to that obtained with US, and further correct US diagnosis. (authors)

  17. Estudo comparativo da ultrafiltração convencional e associação de ultrafiltração convencional e modificada na correção de cardiopatias congênitas com alto risco cirúrgico Comparative study of standard ultrafiltration and its association with modification for the correction of high surgical risk congenital heart diseases

    Directory of Open Access Journals (Sweden)

    Miguel Angel MALUF

    1999-07-01

    Full Text Available A necessidade de correção cirúrgica de má-formações cardíacas complexas, que requerem tempos prolongados de circulação extracorpórea (CEC aumentou a morbimortalidade devido a retenção hídrica e reação inflamatória sistêmica. O objetivo deste estudo é comparar a evolução pós-operatória imediata de pacientes submetidos a ultrafiltração convencional (UFC durante a CEC e ultrafiltração modificada (UFM após CEC. Quarenta e um pacientes submetidos a correção cirúrgica de cardiopatias congênitas foram divididos em 2 grupos: G1: 21 pacientes com idade de 15 dias a 36 meses (mediana: 11 meses e peso de 3,6 a 13,5 kg (M: 7,27 ± 3,07, operados entre 1996 e 1997, foram submetidos a UFC. G2: 20 pacientes com idade de 9 dias a 36 meses (mediana: 5,5 meses e peso entre 2,2 e 12 kg (M: 5,7 ± 2,5, operados entre 1997 e 1998, foram submetidos a UFC+UFM. Dentre as operações mais freqüentes temos: ventriculosseptoplastia, 15 (36,5% casos; operação de Jatene, 10 (24,3% casos; correção de defeito septal A-V total, 7 (17,0% casos etc. A análise estatística de idade, peso e complexidade cirúrgica mostrou semelhança entre os grupos. Houve 6 (28,5% óbitos no G1 e 4 (20% no G2, (p=0,71. O volume médio ultrafiltrado no G1 (UFC foi 143,3 ml e no G2 (UFC+UFM foi 227,0 ml, (pSurgical correction of complex cardiac malformations that require extended extracorporeal circulation (ECC increase morbidity/mortality due to water retention and systemic inflammatory reaction. The purpose of this study is to compare the immediate postoperative evolution of patients submitted to conventional ultrafiltration (CUF during ECC and modified ultrafiltration (MUF after ECC. Forty-one patients submitted to surgical correction of congenital cardiac disease were divided into 2 groups: G1 - 21 patients with ages from 15 days to 36 months (median 11 months and weighing from 3.6 kg (M: 7.27 ± 3.07, operated on between 1996 and 1997 were submitted to CUF

  18. Health-related quality of life in paediatric patients with congenital heart defects: association with the type of heart defect and the surgical technique.

    Science.gov (United States)

    Heusch, A; Kahl, H J; Hensel, K O; Calaminus, G

    2017-11-01

    The aim of the study was to investigate the impact of a number of surgical interventions for a various congenital cardiac defects (CHDs) on self-reported HRQoL. Patients who had received corrective surgery of several congenital heart defects (surgical VSD closure, Fallot, TGA after atrial or arterial switch or Fontan-type circulation for univentricular AV-connection) were interviewed in the office of their home peadiatric cardiologist. HRQoL in children along 7 dimensions was assessed using a standardised questionnaire (PEDQoL); information on the medical case history of each respondent was also collected. HRQoL was assessed in the questionnaire by asking about the frequency (never, rarely, often, always) of specific negative experiences; more frequent experiences indicate a lower quality of life. Frequency expressions were transformed into numerical values (25, 50, 75, 100%), and mean values for HRQoL were calculated for each patient and for each domain. Differences in HRQoL among patients with different types of interventions were analysed using the Mann-Whitney Test or the Kruskal-Wallis Test as appropriate; p values <0.05 were considered to indicate significant differences, while p values <0.1 were considered to indicate notable trends. Patients: 169 patients (60% male, 40% female) were part of the study. The mean age was 11.6 years; 50 patients had surgical VSD closure, 52 surgeries for Tetralogy of Fallot (22 transannular patch, 18 no transannular patch, 12 inaccurate description), 40 had complete transposition of the great arteries (28 atrial switch, 12 arterial switch), 22 had a Fontan-type procedure for univentricular AV-connection. HRQoL differed little among patients with different CHDs for the items "relation to friends," "interactions in the affected families", and "own body image". For other items, notable differences emerged: patients with univentricular hearts rated their physical capacity worse and showed a tendency towards negative ratings in

  19. Functional reorganization of human motor cortex after unaffected side C7 nerve root transposition

    International Nuclear Information System (INIS)

    Gao Gejun; Feng Xiaoyuan; Xu Wendong; Gu Yudong; Tang Weijun; Sun Guixin; Li Ke; Li Yuan; Geng Daoying

    2006-01-01

    Objective: To assess the characteristics of neuronal activity in human motor cortex after the seventh cervical nerve root transposition of the unaffected side by using functional MRI (fMRI). Methods: Thirteen patients who accepted the seventh cervical nerve root transposition of the unaffected side, due to total brachial plexus traction injury diagnosed by manifestation and operation, were examined retrospectively by using fMRI. 10 patients were injured on the left side and 3 on the right side. According to functional recovery of the affected hand, all subjects can be divided into 2 groups. The patients of the first group could not move the affected hand voluntarily. The patients of the second group could move the affected hand self-determined. 12 healthy volunteer's were also involved in this study as control. The fMRI examinations were performed by using echo-planer BOLD sequence. Then the SPM 99 software was used for post-processing. Results: The neuronal activation induced by the movement of both unaffected and affected upper' limb was seen in the contralateral PMC in all patients; Neuronal activation in the ipsilateral PMC evoked by movement of the unaffected extremity was seen in 10 cases, and induced by movement of the affected limb was seen in 7 cases. In the first group, the sharp of clusters in the contralateral PMC resulted by movement of the unaffected extremity showed normal in 9 eases, the average size of clusters resulted by the unaffected hand was 3159 (voxel), and resulted by the unaffected shoulder was 1746(voxel). The sharp of clusters in the contralateral PMC resulted by the affected shoulder or hand were revealed enlargement in 6 cases of each. In the second group, 1 case showed neuronal activation induced by movement of the affected limb in the PMC in both sides of motor cortex, and 2 cases showed neuronal activation in the contralateral PMC. Conclusions: Peripheral nerve injury was able to cause changes of motor cortex in human brain

  20. [Reconstruction of the extensor pollicis longus tendon by transposition of the extensor indicis tendon].

    Science.gov (United States)

    Loos, A; Kalb, K; Van Schoonhoven, J; Landsleitner Dagger, B

    2003-12-01

    Rupture of the extensor pollicis longus-tendon (EPL) is a frequent complication after distal radius fractures. Other traumatic and non-traumatic reasons for this tendon lesion are known, including a theory about a disorder in the blood supply to the tendon itself. We examined 40 patients after reconstruction of the EPL-tendon in a mean follow-up time of 30 months. All patients were clinically examined and a DASH questionnaire was answered by all patients. The method to reconstruct the EPL-tendon was the transposition of the extensor indicis-tendon. After the operations the thumb was put in a splint for four weeks in a "hitch-hiker's-position". 31 ruptures of the tendon (77.5 %) were a result of trauma. In 20 of them (50 %) a distal radius fracture had occurred. Clinical examination included measurements of the movement of the thumb- and index-finger joints, the grip strength and the maximal span of the hand. Significant differences were not found. The isolated extension of the index finger was possible in all patients. But it was reduced in ten cases which represent 25 %. Our results were evaluated by the Geldmacher score to evaluate the reconstruction of the EPL-tendon. 20 % excellent, 65 % good, 12.5 % fair and 2.5 % poor results were reached. The Geldmacher score was used critically. We suggest its modification for the evaluation of thumb abduction. The DASH score reached a functional value of ten points which represents a very good result. In conclusion the extensor indicis-transposition is a safe method to reconstruct the EPL-tendon. Its substantial advantage is taking a healthy muscle as the motor, thereby avoiding the risk of using a degenerated muscle in late tendon reconstruction. A powerful extension of the index finger will be maintained by physical education. Generally, the loss of the extension of the index finger is negligible. It does not disturb the patients. But it has to be discussed with the patient before the operation.

  1. [Exstrophy of rectal duplication associated with anorectal malformation and penoscrotal transposition with perineal hypospadias. A case report].

    Science.gov (United States)

    Fernández Fernández, Jesús Angel; Parodi Hueck, Luis; Carrasco Fermín, Joanna

    2014-06-01

    We present the case of a male patient who required treaatment due to anorectal agenesis with recto urethral fistula and penoscrotal transposition with perineal hypospadias, associated with a perineal tumor. The perineal tumor was found strongly adhered and contiguous to the rectum which makes it compatible with an exstrophy of rectal duplication. Surgical reconstruction of the birth defect was performed in stages until acceptable biological function and esthetic results were obtained.

  2. Isolation of the right subclavian artery in a patient with d-transposition of the great arteries

    Directory of Open Access Journals (Sweden)

    Alisa Arunamata

    2015-01-01

    Full Text Available Isolation of the right subclavian artery (RSCA is rare, and this finding in association with d-transposition of the great arteries (d-TGA is extremely unusual. We present a case of an isolated RSCA in a newborn with d-TGA in whom the clinical presentation was diagnostic. We discuss the imaging modalities used to confirm the diagnosis, the embryological basis of the finding, and the surgical repair.

  3. Isolation of the right subclavian artery in a patient with d-transposition of the great arteries.

    Science.gov (United States)

    Arunamata, Alisa; Perry, Stanton B; Kipps, Alaina K; Vasanawala, Shreyas S; Axelrod, David M

    2015-01-01

    Isolation of the right subclavian artery (RSCA) is rare, and this finding in association with d-transposition of the great arteries (d-TGA) is extremely unusual. We present a case of an isolated RSCA in a newborn with d-TGA in whom the clinical presentation was diagnostic. We discuss the imaging modalities used to confirm the diagnosis, the embryological basis of the finding, and the surgical repair.

  4. Continuous inhaled iloprost in a neonate with d-transposition of the great arteries and severe pulmonary arterial hypertension.

    Science.gov (United States)

    Dykes, John C; Torres, Marilyn; Alexander, Plato J

    2016-03-01

    This report describes the case of a neonate with d-transposition of the great arteries and severe pulmonary arterial hypertension stabilised in the post-operative period with continuous iloprost nebulisation. To our knowledge, this is the first documented method of treating post-operative severe pulmonary arterial hypertension with continuous inhaled iloprost in a patient with complex CHD. We found this method of delivering the drug very effective in stabilising haemodynamic swings in the setting of severe pulmonary arterial hypertension.

  5. Inferior Alveolar Nerve Lateralization and Transposition for Dental Implant Placement. Part II: a Systematic Review of Neurosensory Complications

    Directory of Open Access Journals (Sweden)

    Boris Abayev

    2015-03-01

    Full Text Available Objectives: This article, the second in a two-part series, continues the discussion of inferior alveolar nerve lateralization/transposition for dental implant placement. The aim of this article is to review the scientific literature and clinical reports in order to analyse the neurosensory complications, risks and disadvantages of lateralization/transposition of the inferior alveolar nerve followed by implant placement in an edentulous atrophic posterior mandible. Material and Methods: A comprehensive review of the current literature was conducted according to the PRISMA guidelines by accessing the NCBI PubMed and PMC databases, as well as academic sites and books. The articles were searched from January 1997 to July 2014. Articles in English language, which included adult patients between 18 - 80 years of age who had minimal residual bone above the mandibular canal and had undergone inferior alveolar nerve (IAN repositioning, with minimum 6 months of follow-up, were included. Results: A total of 21 studies were included in this review. Ten were related to IAN transposition, 7 to IAN lateralization and 4 to both transposition and lateralization. The IAN neurosensory disturbance function was present in most patients (99.47% [376/378] for 1 to 6 months. In total, 0.53% (2/378 of procedures the disturbances were permanent. Conclusions: Inferior alveolar nerve repositioning is related to initial transient change in sensation in the majority of cases. The most popular causes of nerve damage are spatula-caused traction in the mucoperiosteal flap, pressure due to severe inflammation or retention of fluid around the nerve and subsequent development of transient ischemia, and mandibular body fracture.

  6. Electroweak corrections

    International Nuclear Information System (INIS)

    Beenakker, W.J.P.

    1989-01-01

    The prospect of high accuracy measurements investigating the weak interactions, which are expected to take place at the electron-positron storage ring LEP at CERN and the linear collider SCL at SLAC, offers the possibility to study also the weak quantum effects. In order to distinguish if the measured weak quantum effects lie within the margins set by the standard model and those bearing traces of new physics one had to go beyond the lowest order and also include electroweak radiative corrections (EWRC) in theoretical calculations. These higher-order corrections also can offer the possibility of getting information about two particles present in the Glashow-Salam-Weinberg model (GSW), but not discovered up till now, the top quark and the Higgs boson. In ch. 2 the GSW standard model of electroweak interactions is described. In ch. 3 some special techniques are described for determination of integrals which are responsible for numerical instabilities caused by large canceling terms encountered in the calculation of EWRC effects, and methods necessary to get hold of the extensive algebra typical for EWRC. In ch. 4 various aspects related to EWRC effects are discussed, in particular the dependence of the unknown model parameters which are the masses of the top quark and the Higgs boson. The processes which are discussed are production of heavy fermions from electron-positron annihilation and those of the fermionic decay of the Z gauge boson. (H.W.). 106 refs.; 30 figs.; 6 tabs.; schemes

  7. Antenatal diagnosis of congenital deafness.

    Science.gov (United States)

    Isaacson, G

    1988-01-01

    Advances in the field of antenatal diagnosis have made possible the detection of profound sensorineural hearing loss prior to birth. Fetal motion in response to sound and auditory evoked potential testing can determine the presence of fetal hearing in the third trimester of pregnancy. Imaging modalities including ultrasound, computed tomography, and magnetic resonance imaging hold promise for the diagnosis of some forms of congenital deafness in the second trimester fetus. The methods by which congenital deafness soon may be diagnosed and the implications for the otologist are discussed.

  8. On diagnosis of congenital toxoplasmosis

    International Nuclear Information System (INIS)

    Denisova, L.B.; Vorontsova, S.V.; Shvedov, V.A.

    1999-01-01

    Chemical manifestations are considered and CT-semiotics of congenital toxoplasmosis, which can form intracranial calcinates, is described. Taking a certain case of congenital toxoplasmosis observation as an example the potentialities and significance of X-ray computerized tomography (CT) in the identification of brain pathological changes are demonstrated. It is shown that intracranial calcificates may be a sign of toxoplasmosis infection. In case of cytomegalovirus infection the calcificates on CT-scans have mostly periventricular localization. Equally with the revealing of brain status in case of chronic stage of neutrotoxoplasmosis the CT has also played a decisive role in diagnosis of pseudotumoroseus course of ischemic insult [ru

  9. MRI of congenital urethroperineal fistula

    Energy Technology Data Exchange (ETDEWEB)

    Ghadimi-Mahani, Maryam; Dillman, Jonathan R.; Pai, Deepa; DiPietro, Michael [C. S. Mott Children' s Hospital, Department of Radiology, Section of Pediatric Radiology, University of Michigan Health System, Ann Arbor, MI (United States); Park, John [C. S. Mott Children' s Hospital, Department of Pediatric Urology, University of Michigan Health System, Ann Arbor, MI (United States)

    2010-12-15

    We present the MRI features of a congenital urethroperineal fistula diagnosed in a 12-year-old boy being evaluated after a single urinary tract infection. This diagnosis was initially suggested by voiding cystourethrogram and confirmed by MRI. Imaging revealed an abnormal fluid-filled tract arising from the posterior urethra and tracking to the perineal skin surface that increased in size during micturition. Surgical resection and histopathological evaluation of the abnormal tract confirmed the diagnosis of congenital urethroperineal fistula. MRI played important roles in confirming the diagnosis and assisting surgical planning. (orig.)

  10. MRI of congenital urethroperineal fistula

    International Nuclear Information System (INIS)

    Ghadimi-Mahani, Maryam; Dillman, Jonathan R.; Pai, Deepa; DiPietro, Michael; Park, John

    2010-01-01

    We present the MRI features of a congenital urethroperineal fistula diagnosed in a 12-year-old boy being evaluated after a single urinary tract infection. This diagnosis was initially suggested by voiding cystourethrogram and confirmed by MRI. Imaging revealed an abnormal fluid-filled tract arising from the posterior urethra and tracking to the perineal skin surface that increased in size during micturition. Surgical resection and histopathological evaluation of the abnormal tract confirmed the diagnosis of congenital urethroperineal fistula. MRI played important roles in confirming the diagnosis and assisting surgical planning. (orig.)

  11. Congenital hypothyroidism: insights into pathogenesis and treatment

    OpenAIRE

    Cherella, Christine E.; Wassner, Ari J.

    2017-01-01

    Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly. While newborn screening has virtually eradicated intellectual disability due to severe congenital hypothyroidism in the developed world, more stringent screening strategies have resulted in increased detection of mild congenital hypothyroidism. Recent studies provide conflicting evidence about the potential neurodevelopmental risks...

  12. The prevalence of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Dolk, Helen; Loane, Maria; Garne, Ester

    2010-01-01

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

  13. The impact of the maternal-foetal environment on outcomes of surgery for congenital heart disease in neonates.

    Science.gov (United States)

    Gaynor, James William; Parry, Samuel; Moldenhauer, Julie S; Simmons, Rebecca A; Rychik, Jack; Ittenbach, Richard F; Russell, William W; Zullo, Erin; Ward, John Laurenson; Nicolson, Susan C; Spray, Thomas L; Johnson, Mark P

    2018-02-13

    Pregnancies with congenital heart disease in the foetus have an increased prevalence of pre-eclampsia, small for gestational age and preterm birth, which are evidence of an impaired maternal-foetal environment (MFE). The impact of an impaired MFE, defined as pre-eclampsia, small for gestational age or preterm birth, on outcomes after cardiac surgery was evaluated in neonates (n = 135) enrolled in a study evaluating exposure to environmental toxicants and neuro-developmental outcomes. The most common diagnoses were transposition of the great arteries (n = 47) and hypoplastic left heart syndrome (n = 43). Impaired MFE was present in 28 of 135 (21%) subjects, with small for gestational age present in 17 (61%) patients. The presence of an impaired MFE was similar for all diagnoses, except transposition of the great arteries (P MFE (14 vs 38 days, P MFE (11.7% vs 2.8%, P = 0.104). However, for the entire cohort, survival at 36 months was greater for those without an impaired MFE (96% vs 68%, P = 0.001). For patients with hypoplastic left heart syndrome, survival was also greater for those without an impaired MFE (90% vs 43%, P = 0.007). An impaired MFE is common in pregnancies in which the foetus has congenital heart disease. After cardiac surgery in neonates, the presence of an impaired MFE was associated with lower survival at 36 months of age for the entire cohort and for the subgroup with hypoplastic left heart syndrome. © The Author(s) 2018. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  14. A nucleolus-predominant piggyBac transposase, NP-mPB, mediates elevated transposition efficiency in mammalian cells.

    Science.gov (United States)

    Hong, Jin-Bon; Chou, Fu-Ju; Ku, Amy T; Fan, Hsiang-Hsuan; Lee, Tung-Lung; Huang, Yung-Hsin; Yang, Tsung-Lin; Su, I-Chang; Yu, I-Shing; Lin, Shu-Wha; Chien, Chung-Liang; Ho, Hong-Nerng; Chen, You-Tzung

    2014-01-01

    PiggyBac is a prevalent transposon system used to deliver transgenes and functionally explore the mammalian untouched genomic territory. The important features of piggyBac transposon are the relatively low insertion site preference and the ability of seamless removal from genome, which allow its potential uses in functional genomics and regenerative medicine. Efforts to increase its transposition efficiency in mammals were made through engineering the corresponding transposase (PBase) codon usage to enhance its expression level and through screening for mutant PBase variants with increased enzyme activity. To improve the safety for its potential use in regenerative medicine applications, site-specific transposition was achieved by using engineered zinc finger- and Gal4-fused PBases. An excision-prone PBase variant has also been successfully developed. Here we describe the construction of a nucleolus-predominant PBase, NP-mPB, by adding a nucleolus-predominant (NP) signal peptide from HIV-1 TAT protein to a mammalian codon-optimized PBase (mPB). Although there is a predominant fraction of the NP-mPB-tGFP fusion proteins concentrated in the nucleoli, an insertion site preference toward nucleolar organizer regions is not detected. Instead a 3-4 fold increase in piggyBac transposition efficiency is reproducibly observed in mouse and human cells.

  15. High incidence of interchromosomal transpositions in the evolutionary history of a subset of or genes in Drosophila.

    Science.gov (United States)

    Conceição, Inês C; Aguadé, Montserrat

    2008-04-01

    In insects, the odorant receptor (Or) multigene family is an intermediate-sized family with genes present in all chromosomes, indicating that duplication followed by interchromosomal transposition played an important role in the early stages of the family evolution. Here, we have explored the occurrence of interchromosomal transpositions in more recent stages through the comparative analysis of a subset of Or genes in Drosophila, where the gene content of chromosomal arms is highly conserved. The studied subset consisted of 11 Or genes located on the left arm of chromosome 3 (Muller's D element) in D. melanogaster. Our study focused on the number and chromosomal arm location of these members of the family across the 12 Drosophila species with complete genome sequences. In contrast to previous results from in situ hybridization comparative mapping that were mainly based on single-copy genes, our study, based on members of a multigene family of moderate size, revealed repeated interchromosomal transposition events and a complex history of some of the studied genes.

  16. Specifics of psychomotor development in group of congenital blind children

    Directory of Open Access Journals (Sweden)

    Zbyněk Janečka

    2011-03-01

    Full Text Available Ontogenesis of the psychomotor development in group of congenital blind children has its own specifics. Visual defect is influenced by many things. In the period from birth to two years of age occur in children, significant changes in cognitive, psychomotor and social development. Compared with the normal sighted population go the development of congenital blind children in all these areas slower. Visual deprivation also influenced on development of body posture. More important is whether the development proceeds in stages that correspond to the development of normal vision child. If development proceeds in the right direction is the temporal aspect criterion rather orientation. For blind children is also important to strengthen the ability to correctly identify their own body through somatognosy. Stereognosy in turn determines the degree of contact with the outer world and focus it in relation to the physical schema.

  17. [Exudative enteropathy in congenital lymphedema-lymphangiectasia syndrome].

    Science.gov (United States)

    Heruth, M; Müller, P; Liebscher, L; Kurze, G; Richter, T

    2006-01-01

    Congenital peripheral elephantiasiformic alterations are very rare in paediatric patients. In a patient with lymphangiectasia-lymphedema syndrome we demonstrate over a 8-year follow-up that not only cosmetic and social indications for surgical treatments but also internal care become important during the course. We report on a boy with congenital lymphedemas of the extremities and the genital region, which were several times surgically treated. The patient became symptomatic firstly with tetanic cramps caused by malabsorption syndrome due to intestinal lymphangiectasia at the age of 6 years. Synopsis of clinical and laboratory findings and the patient's course are pointing to a mild Hennekam syndrome with still unknown aetiology. The boy developed adequately with permanent oral substitution of electrolytes and vitamins, protein-rich diet, supplementation of medium-chain fatty acids and compressing bandages. Infusions of human albumin to correct persistent hypalbuminemia as well as cytostatic treatment with cyclophosphamide as a formal trial were ineffective and are not advisable, therefore.

  18. Congenital Upper Eyelid Coloboma: Clinical and Surgical Management.

    Science.gov (United States)

    Ortega Molina, José María; Mora Horna, Eduardo Ramón; Salgado Miranda, Andrés David; Rubio, Rosa; Solans Pérez de Larraya, Ana; Salcedo Casillas, Guillermo

    2015-01-01

    Purpose. The goal was to describe our experience in the surgical management and treatment of four patients with congenital upper eyelid colobomas. Methods. A descriptive, observational, retrospective study was performed including patients with congenital eyelid colobomas referred to Asociación para Evitar la Ceguera en México I.A.P. "Dr. Luis Sánchez Bulnes" between 2004 and 2014 and assessed by the Oculoplastics and Orbit Service. Results. The four cases required surgical treatment of the eyelid defects before one year of age and their evolution was monitored from the time of referral to the present day. One of the patients needed a second surgical procedure to repair the eyelid defect and correct the strabismus. Conclusions. Eyelid colobomas are a potential threat to vision at an early age, which requires close monitoring of the visual development of patients.

  19. Successful cardiac transplantation outcomes in patients with adult congenital heart disease.

    Science.gov (United States)

    Menachem, Jonathan N; Golbus, Jessica R; Molina, Maria; Mazurek, Jeremy A; Hornsby, Nicole; Atluri, Pavan; Fuller, Stephanie; Birati, Edo Y; Kim, Yuli Y; Goldberg, Lee R; Wald, Joyce W

    2017-09-01

    The purpose of our study is (1) to characterise patients with congenital heart disease undergoing heart transplantation by adult cardiac surgeons in a large academic medical centre and (2) to describe successful outcomes associated with our multidisciplinary approach to the evaluation and treatment of adults with congenital heart disease (ACHD) undergoing orthotopic heart transplantation (OHT). Heart failure is the leading cause of death in patients with ACHD leading to increasing referrals for OHT. The Penn Congenital Transplant Database comprises a cohort of patients with ACHD who underwent OHT between March 2010 and April 2016. We performed a retrospective cohort study of the 20 consecutive patients. Original cardiac diagnoses include single ventricle palliated with Fontan (n=8), dextro-transposition of the great arteries after atrial switch (n=4), tetralogy of Fallot (n=4), pulmonary atresia (n=1), Ebstein anomaly (n=1), unrepaired ventricular septal defect (n=1) and Noonan syndrome with coarctation of the aorta (n=1). Eight patients required pretransplant inotropes and two required pretransplant mechanical support. Nine patients underwent heart-liver transplant and three underwent heart-lung transplant. Three patients required postoperative mechanical circulatory support. Patients were followed for an average of 38 months as of April 2016, with 100% survival at 30 days and 1 year and 94% overall survival (19/20 patients). ACHD-OHT patients require highly specialised, complex and multidisciplinary healthcare. The success of our programme is attributed to using team-based, patient-centred care including our multidisciplinary staff and specialists across programmes and departments. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  20. The reverse boomerang sign: a marker for first-trimester transposition of great arteries.

    Science.gov (United States)

    Bravo-Valenzuela, Nathalie Jeanne; Peixoto, Alberto Borges; Araujo Júnior, Edward; Da Silva Costa, Fabricio; Meagher, Simon

    2017-10-12

    To describe a new sonographic marker of transposition of great arteries (TGA) during the first-trimester screening. We reviewed six cases of TGA from 2013 to 2016 in which an antenatal diagnosis of TGA at first-trimester screening (11-13 + 6 weeks of gestation) was confirmed postnatally. We specifically assessed images obtained by scanning the fetal heart in three vessels (3V) and three-vessel with trachea (3VT) views using color Doppler. The "reverse boomerang" sign was defined as a reverse curvature of right ventricle outflow tract (RVOT) at level of the 3VT view. We described six cases of confirmed TGA, five singletons and one twin pregnancy, among which only two vessels and the reverse curvature of RVOT (reverse boomerang sign) was demonstrated in the first-trimester screening at level of 3VT view. Ventricular septal defects were observed in three cases, and double outlet right ventricle in one case. No other cardiac or extracardiac anomalies were identified. Termination of pregnancy was not performed in any case. Our series case suggests that the reverse boomerang sign may improve the early prenatal screening for TGA.

  1. Metabolic alterations and neurodevelopmental outcome of infants with transposition of the great arteries.

    Science.gov (United States)

    Park, I Sook; Yoon, S Young; Min, J Yeon; Kim, Y Hwue; Ko, J Kok; Kim, K Soo; Seo, D Man; Lee, J Hee

    2006-01-01

    Abnormal neurodevelopment has been reported for infants who were born with transposition of the great arteries (TGA) and underwent arterial switch operation (ASO). This study evaluates the cerebral metabolism of TGA infants at birth and before ASO and neurodevelopment 1 year after ASO. Proton magnetic resonance spectroscopy (1H-MRS) was performed on 16 full-term TGA brains before ASO within 3-6 days after birth. The brain metabolite ratios of [NAA/Cr], [Cho/Cr], and [mI/Cr] evaluated measured. Ten infants were evaluated at 1 year using the Bayley Scales of Infants Development II (BSED II). Cerebral metabolism of infants with TGA was altered in parietal white matter (PWM) and occipital gray matter (OGM) at birth before ASO. One year after ASO, [Cho/Cr] in PWM remained altered, but all metabolic ratios in OGM were normal. The results of BSID II at 1 year showed delayed mental and psychomotor development. This delayed neurodevelopmental outcome may reflect consequences of the altered cerebral metabolism in PWM measured by 1H-MRS. It is speculated that the abnormal hemodynamics due to TGA in utero may be responsible for the impaired cerebral metabolism and the subsequent neurodevelopmental deficit.

  2. Letter-transposition effects are not universal: The impact of transposing letters in Hebrew.

    Science.gov (United States)

    Velan, Hadas; Frost, Ram

    2009-10-01

    We examined the effects of letter transposition in Hebrew in three masked-priming experiments. Hebrew, like English has an alphabetic orthography where sequential and contiguous letter strings represent phonemes. However, being a Semitic language it has a non-concatenated morphology that is based on root derivations. Experiment 1 showed that transposed-letter (TL) root primes inhibited responses to targets derived from the non-transposed root letters, and that this inhibition was unrelated to relative root frequency. Experiment 2 replicated this result and showed that if the transposed letters of the root created a nonsense-root that had no lexical representation, then no inhibition and no facilitation were obtained. Finally, Experiment 3 demonstrated that in contrast to English, French, or Spanish, TL nonword primes did not facilitate recognition of targets, and when the root letters embedded in them consisted of a legal root morpheme, they produced inhibition. These results suggest that lexical space in alphabetic orthographies may be structured very differently in different languages if their morphological structure diverges qualitatively. In Hebrew, lexical space is organized according to root families rather than simple orthographic structure, so that all words derived from the same root are interconnected or clustered together, independent of overall orthographic similarity.

  3. The Managerial Reduction in the Management Technologies Transposition Process to Public Organizations

    Directory of Open Access Journals (Sweden)

    Sandro Trescastro Bergue

    2010-04-01

    Full Text Available This essay discusses the phenomenon of the implementation of technologies designed in the management business, with emphasis on relations with public organizations. It proposes a reflection on the concept of sociological reduction by Guerreiro Ramos, recovering its roots in Husserl and Heidegger and their relationship with the concepts of creative adaptation and the translation of managerial issues. Contextualized in the paradigm of new public management and the list of values and assumptions on which this movement is based, the analysis of the reproduction of practices known in private organizations by public ones seeking their legitimacy has revealed the formality and ceremonial aspect of this contemporary phenomenon. The importance of bringing knowledge from the organizational field that subsidizes management as well as the coherence of these cultural objects in terms of concepts and assumptions of organization are highlighted here. The process of transpositions, contrasting with reproducible traits of Brazilian managerial culture that are historically constructed but consistent with the notion of sociological reduction, requires a critical, conscious and engaged attitude on the part of members of the organization not only regarding the relevance of the imported content but also giving new meaning to the concepts underlying the management technologies.

  4. Patient’s Cross-border Mobility Directive: Application, Performance and Perceptions Two Years after Transposition

    Directory of Open Access Journals (Sweden)

    Riedel Rafał

    2016-10-01

    Full Text Available This paper seeks to analyse the directive on the application of patients’ rights in cross-border healthcare. Two years after the transposition, it is time for first evaluations of its application, performance and perception. The analysis consists of three major elements: reconstruction of the legal scope and subject matter of the new legislation, conclusions of the evaluative reports monitoring its implementation and performance as well as the public opinion polls revealing the EU citizens’ perception of its details. These three components combined together deliver a picture of the state of play about the pan-European cross-border patients’ mobility. The bottomline conclusions negatively verify the supposition present in some earlier literature on patients’ cross-border mobility that the directive has a transformative potential leading towards the creation of truly competitive pan-European medical market. After two years of its operation, there is still no increased patients’ mobility across EU internal borders observed. As regards the speculations for the future, there are only some weak symptoms identified and they may result in intensified cross-border mobility for healthcare.

  5. Congenital Aortic Stenosis and Aneurysms

    NARCIS (Netherlands)

    D. van der Linde (Denise)

    2013-01-01

    textabstractDue to improvements in pediatric cardio-thoracic surgery, anesthesia and diagnostics over the past decades, the number of adult patients with congenital heart disease (CHD) is growing. This causes an increasing demand in clinical practice for insight in long term outcome in both

  6. Severe congenital neutropenia (Kostmann Syndrome)

    African Journals Online (AJOL)

    Severe congenital neutropenia (SCN), Kostmann syndrome is a heterogenous disorder of myelopoiesis characterized by severe chronic ... erogenous hematological disorders, characterized by extremely low circu- lating neutrophils and ..... tic activation of STAT5 and stimulate. G-CSF-induced cell proliferation.26, 27.

  7. Angiocardiography in congenital heart malformations

    International Nuclear Information System (INIS)

    Soto, B.; Pacifico, A.D.

    1990-01-01

    The contents of this book are well organized, it deals with the technique of angiocardiography, and describes the angiocardiographic anatomy of the normal heart and offers an excellent sequential analysis of cardiac morphology. The rest of the book describes the angiocardiographic findings observed in individual congenital cardiac disorders

  8. Congenital Pulmonary Malformation in Children

    Directory of Open Access Journals (Sweden)

    Montasser Nadeem

    2012-01-01

    Full Text Available Congenital Pulmonary Malformations (CPMs are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  9. [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.

  10. Genetics of Primary Congenital Hypothyroidism

    NARCIS (Netherlands)

    Zwaveling-Soonawala, Nitash; van Trotsenburg, Paul

    2018-01-01

    Congenital hypothyroidism (CH) is one of the most common preventable forms of mental retardation and since the implementation of neonatal screening programs in the mid-1970s, early detection and treatment have proven to be very successful in preventing brain damage. CH may be of thyroidal (=

  11. Congenital Pulmonary Malformation in Children

    OpenAIRE

    Nadeem, Montasser; Elnazir, Basil; Greally, Peter

    2012-01-01

    Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  12. Neural Correlates of Congenital Amusia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-10-01

    Full Text Available Magnetic resonance T1-weighted images were analyzed, using voxel-based morphometry (VBM, to detect brain anatomical differences in two independent groups of adults with congenital amusia (or tone-deafness compared to controls with normal pitch perception and no formal musical training.

  13. Congenital bronchobiliary fistula: MRI appearance

    International Nuclear Information System (INIS)

    Hourigan, Jon S.; Carr, Michael G.; Burton, Edward M.; Ledbetter, Joel C.

    2004-01-01

    Congenital bronchobiliary fistula (CBBF) is a rare anomaly. Twenty-three cases have been reported since the anomaly was first described in 1952. Most of these cases were diagnosed by bronchoscopy, cholangiography, or hepatobiliary nuclear imaging. Our case of a newborn with bilious emesis with CBBF was depicted by T1-weighted gradient-echo MRI sequences. (orig.)

  14. Congenital lymphoedema of the genitalia

    NARCIS (Netherlands)

    Bolt, R. J.; Peelen, W.; Nikkels, P. G.; de Jong, T. P.

    1998-01-01

    Isolated congenital lymphoedema of the external genitalia in boys is extremely rare. It can have major physical and emotional consequences for the children. Three male patients with primary lymphoedema of the penis and scrotum are described. The first case presented with lymphoedema of the prepuce

  15. Airway management in an infant with congenital trismus: the role of ...

    African Journals Online (AJOL)

    Various airway management options include blind intubation, retrograde intubation and fibre-optic intubation, failing which a tracheostomy might be needed. We present the airway management of a seven-month-old infant with congenital trismus who was scheduled for corrective surgery. After several unsuccessful attempts ...

  16. Prognostic implications of mutation-specific QTc standard deviation in congenital long QT syndrome

    NARCIS (Netherlands)

    Mathias, Andrew; Moss, Arthur J.; Lopes, Coeli M.; Barsheshet, Alon; McNitt, Scott; Zareba, Wojciech; Robinson, Jennifer L.; Locati, Emanuela H.; Ackerman, Michael J.; Benhorin, Jesaia; Kaufman, Elizabeth S.; Platonov, Pyotr G.; Qi, Ming; Shimizu, Wataru; Towbin, Jeffrey A.; Michael Vincent, G.; Wilde, Arthur A. M.; Zhang, Li; Goldenberg, Ilan

    2013-01-01

    Individual corrected QT interval (QTc) may vary widely among carriers of the same long QT syndrome (LQTS) mutation. Currently, neither the mechanism nor the implications of this variable penetrance are well understood. To hypothesize that the assessment of QTc variance in patients with congenital

  17. Developing and Evaluating Virtual Cardiotomy for Preoperative Planning in Congenital Heart Disease

    DEFF Research Database (Denmark)

    Sørensen, Thomas Sangild; Beerbaum, Philipp; Mosegaard, Jesper

    2009-01-01

    Careful preoperative planning is of outmost importance -- in particular when considering complex corrective surgery on congenitally malformed hearts. As an aid to such decisionsmaking we describe a system for virtual reconstruction of patient-specific morphology from 3D-capable imaging modalities...

  18. Psychopathology in young adults with congenital heart disease. Follow-up results

    NARCIS (Netherlands)

    Utens, E. M.; Bieman, H. J.; Verhulst, F. C.; Meijboom, F. J.; Erdman, R. A.; Hess, J.

    1998-01-01

    The aim of the present study was to assess the occurrence of a wide range of behavioural and emotional problems long-term (> 9 years) after surgical correction for congenital heart disease in infancy and childhood. The problem scores on the Young Adult Self-Report of 166 19-25-year-old adults with

  19. Treatment of congenital club foot with Ponseti method

    Directory of Open Access Journals (Sweden)

    Agrawal R

    2005-01-01

    Full Text Available Introduction: Idiopathic congenital talipes equinovarus (Club Foot is a complex deformity that is difficult to correct. The goal of treatment is to reduce or eliminate its four components so that the patient has a functional, pain free, plantigrade foot, with good mobility and without calluses, and does not need to wear modified shoes. Material and Methods: We have treated 41 patients with 60 idiopathic clubfoot deformity using Ponseti method of management. The severity of foot deformity was assessed according to the grading system of Dimeglio et al. Results: The mean number of casts that were applied to obtain correction was six (range four to nine casts. Tenotomy was done in 58 feet. Fifty eight feet had good results.Two patients developed recurrence of the deformity due to non-compliance of the use of orthrotics. Conclusion: The Ponseti method is a safe and effective treatment for congenital idiopathic clubfoot and radically decreases the need for extensive corrective surgery. Non compliance with orthotics has been widely reported to be the main factor causing failure of the technique.

  20. Comparative effectiveness of one-stage versus two-stage basilic vein transposition arteriovenous fistulas.

    Science.gov (United States)

    Ghaffarian, Amir A; Griffin, Claire L; Kraiss, Larry W; Sarfati, Mark R; Brooke, Benjamin S

    2018-02-01

    Basilic vein transposition (BVT) fistulas may be performed as either a one-stage or two-stage operation, although there is debate as to which technique is superior. This study was designed to evaluate the comparative clinical efficacy and cost-effectiveness of one-stage vs two-stage BVT. We identified all patients at a single large academic hospital who had undergone creation of either a one-stage or two-stage BVT between January 2007 and January 2015. Data evaluated included patient demographics, comorbidities, medication use, reasons for abandonment, and interventions performed to maintain patency. Costs were derived from the literature, and effectiveness was expressed in quality-adjusted life-years (QALYs). We analyzed primary and secondary functional patency outcomes as well as survival during follow-up between one-stage and two-stage BVT procedures using multivariate Cox proportional hazards models and Kaplan-Meier analysis with log-rank tests. The incremental cost-effectiveness ratio was used to determine cost savings. We identified 131 patients in whom 57 (44%) one-stage BVT and 74 (56%) two-stage BVT fistulas were created among 8 different vascular surgeons during the study period that each performed both procedures. There was no significant difference in the mean age, male gender, white race, diabetes, coronary disease, or medication profile among patients undergoing one- vs two-stage BVT. After fistula transposition, the median follow-up time was 8.3 months (interquartile range, 3-21 months). Primary patency rates of one-stage BVT were 56% at 12-month follow-up, whereas primary patency rates of two-stage BVT were 72% at 12-month follow-up. Patients undergoing two-stage BVT also had significantly higher rates of secondary functional patency at 12 months (57% for one-stage BVT vs 80% for two-stage BVT) and 24 months (44% for one-stage BVT vs 73% for two-stage BVT) of follow-up (P < .001 using log-rank test). However, there was no significant difference

  1. [Identification of risk factors for congenital malformations].

    Science.gov (United States)

    Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio

    2014-11-01

    The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

  2. Spinal fusion in patients with congenital heart disease. Predictors of outcome.

    Science.gov (United States)

    Coran, D L; Rodgers, W B; Keane, J F; Hall, J E; Emans, J B

    1999-07-01

    The strong association between congenital heart disease and spinal deformity is well established, but data on the risks and outcome of spinal fusion surgery in patients with congenital heart disease are scarce. The purpose of this study was to identify predictors of perioperative risk and outcome in a large series of children and adolescents with congenital heart disease who underwent spinal fusion for scoliosis or kyphosis. In the authors' retrospective analysis of 74 consecutive patients with congenital heart disease undergoing spinal fusion, there were two deaths (2.7%) and 18 significant complications (24.3%) in the perioperative period. Preoperative cyanosis (arterial oxygen saturation < 90% at rest) with uncorrected or incompletely corrected congenital heart disease was associated with both deaths. Complications occurred in nine of 18 (50%) patients with cyanosis and in 11 of 56 (20%) patients without cyanosis. As judged by multivariate analysis the best predictors of perioperative outcome were the overall physical status of the patient as represented by the American Society of Anesthesiologists' preoperative score and a higher rate of intraoperative blood loss. Seventeen of 43 patients (40%) with an American Society of Anesthesiologists score of 3 or higher experienced complications including two perioperative deaths. Successful spinal fusion and correction were achieved in 97% of patients. Children and adolescents with congenital heart disease can undergo elective spinal fusion with risks that relate to overall cardiac status. Careful assessment of preoperative status by pediatric cardiologists and cardiac anesthesiologists familiar with surgical treatment of patients with congenital heart disease will assist the orthopaedic surgeon in providing the most realistic estimate of risk.

  3. Masseteric-facial nerve transposition for reanimation of the smile in incomplete facial paralysis.

    Science.gov (United States)

    Hontanilla, Bernardo; Marre, Diego

    2015-12-01

    Incomplete facial paralysis occurs in about a third of patients with Bell's palsy. Although their faces are symmetrical at rest, when they smile they have varying degrees of disfigurement. Currently, cross-face nerve grafting is one of the most useful techniques for reanimation. Transfer of the masseteric nerve, although widely used for complete paralysis, has not to our knowledge been reported for incomplete palsy. Between December 2008 and November 2013, we reanimated the faces of 9 patients (2 men and 7 women) with incomplete unilateral facial paralysis with transposition of the masseteric nerve. Sex, age at operation, cause of paralysis, duration of denervation, recipient nerves used, and duration of follow-up were recorded. Commissural excursion, velocity, and patients' satisfaction were evaluated with the FACIAL CLIMA and a questionnaire, respectively. The mean (SD) age at operation was 39 (±6) years and the duration of denervation was 29 (±19) months. There were no complications that required further intervention. Duration of follow-up ranged from 6-26 months. FACIAL CLIMA showed improvement in both commissural excursion and velocity of more than two thirds in 6 patients, more than one half in 2 patients and less than one half in one. Qualitative evaluation showed a slight or pronounced improvement in 7/9 patients. The masseteric nerve is a reliable alternative for reanimation of the smile in patients with incomplete facial paralysis. Its main advantages include its consistent anatomy, a one-stage operation, and low morbidity at the donor site. Copyright © 2015 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  4. The RNAPII-CTD Maintains Genome Integrity through Inhibition of Retrotransposon Gene Expression and Transposition.

    Directory of Open Access Journals (Sweden)

    Maria J Aristizabal

    2015-10-01

    Full Text Available RNA polymerase II (RNAPII contains a unique C-terminal domain that is composed of heptapeptide repeats and which plays important regulatory roles during gene expression. RNAPII is responsible for the transcription of most protein-coding genes, a subset of non-coding genes, and retrotransposons. Retrotransposon transcription is the first step in their multiplication cycle, given that the RNA intermediate is required for the synthesis of cDNA, the material that is ultimately incorporated into a new genomic location. Retrotransposition can have grave consequences to genome integrity, as integration events can change the gene expression landscape or lead to alteration or loss of genetic information. Given that RNAPII transcribes retrotransposons, we sought to investigate if the RNAPII-CTD played a role in the regulation of retrotransposon gene expression. Importantly, we found that the RNAPII-CTD functioned to maintaining genome integrity through inhibition of retrotransposon gene expression, as reducing CTD length significantly increased expression and transposition rates of Ty1 elements. Mechanistically, the increased Ty1 mRNA levels in the rpb1-CTD11 mutant were partly due to Cdk8-dependent alterations to the RNAPII-CTD phosphorylation status. In addition, Cdk8 alone contributed to Ty1 gene expression regulation by altering the occupancy of the gene-specific transcription factor Ste12. Loss of STE12 and TEC1 suppressed growth phenotypes of the RNAPII-CTD truncation mutant. Collectively, our results implicate Ste12 and Tec1 as general and important contributors to the Cdk8, RNAPII-CTD regulatory circuitry as it relates to the maintenance of genome integrity.

  5. Transposition of the SQUG methodology to the Belgian NPP(nuclear power station)

    International Nuclear Information System (INIS)

    Detroux, P.; Aelbrecht, D.; Naisse, J.C.; Greer, J.L.

    1991-01-01

    The units of a Belgian Nuclear PowerStation had to be seismically reassessed after ten years of operation because the seismic requirements were upgraded from 0.1g to 0.17g free field ground acceleration. Seismic requalification of the active equipment was a critical problem as the current classical methods were too conservative and their application would have lead to unacceptable replacement or reinforcement of a lot of equipment. The approach based on the use of past experience of seismic behavior of non nuclear equipment was chosen; this methodology was developed by the Seismic Qualification Utility Group (SQUG); a group of U.S. utilities and had to be transposed to the Belgian N.P.P. This transposition is described in this paper. It affects different aspects of the methodology. First, the impact of specific requests of the Safety Authorities on the elaboration of the Safe Shutdown Equipment List (SSEL) shall be examined. Then it is explained why the tedious work of specific relay screening was avoided by taking advantage of initial design features for both Instrumentation and Control (I and C) and Electrical power distribution system; the impact on the Electrical SSEL is also described. Afterwards, it is presented how it was possible to conduct a specific existing seismic qualification at 0.1 g free field ground acceleration. Finally, the resolution of specific important problems that arose from the application of the SQUG methodology, is presented such as the definition of the grade level and the conservatism of the classical Amplified Floor Spectra (criterion 1), the calculation of the nozzle loads on mechanical equipment connected to long unbraced piping and the transfer of these loads to the anchorage. (author)

  6. Graded versus ungraded inferior oblique anterior transposition in patients with asymmetric dissociated vertical deviation.

    Science.gov (United States)

    Rajavi, Zhale; Feizi, Mohadeseh; Naderi, Ali; Sabbaghi, Hamideh; Behradfar, Narges; Yaseri, Mehdi; Faghihi, Mohammad

    2017-12-01

    To report the surgical outcomes of graded versus ungraded inferior oblique anterior transposition (IOAT) in treatment of patients with asymmetric dissociated vertical deviation (DVD) and bilateral inferior oblique overaction (IOOA). A total of 74 eyes of 37 patients with asymmetric DVD (interocular difference of ≥5 Δ ) and bilateral IOOA of > +1 were included in this randomized clinical trial. In the ungraded group (n = 18), both inferior oblique muscles were sutured at the inferior rectus level; in the graded group (n = 19), the inferior oblique muscles of eyes with more DVD were sutured at the level of the inferior rectus and inferior oblique muscles of eyes with less DVD were sutured 2 mm posterior to the level of the inferior rectus muscle. DVD was significantly reduced in each group (P < 0.001 for both). Although the postoperative mean difference of asymmetry of DVD was less in the ungraded group compared to the graded group (1.2 ± 1.9 vs 3.2 ± 1.2 [P = 0.001]), the absolute amounts of reduction of DVD asymmetry were similar (4.3 ± 2.3 vs 4.4 ± 3.1 [P = 0.78]). IOOA and V patterns were also reduced postoperatively. Each method of IOAT was effective in reducing DVD, asymmetry, IOOA, and V patterns. Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  7. Derepression of the plant Chromovirus LORE1 induces germline transposition in regenerated plants.

    Directory of Open Access Journals (Sweden)

    Eigo Fukai

    2010-03-01

    Full Text Available Transposable elements represent a large proportion of the eukaryotic genomes. Long Terminal Repeat (LTR retrotransposons are very abundant and constitute the predominant family of transposable elements in plants. Recent studies have identified chromoviruses to be a widely distributed lineage of Gypsy elements. These elements contain chromodomains in their integrases, which suggests a preference for insertion into heterochromatin. In turn, this preference might have contributed to the patterning of heterochromatin observed in host genomes. Despite their potential importance for our understanding of plant genome dynamics and evolution, the regulatory mechanisms governing the behavior of chromoviruses and their activities remain largely uncharacterized. Here, we report a detailed analysis of the spatio-temporal activity of a plant chromovirus in the endogenous host. We examined LORE1a, a member of the endogenous chromovirus LORE1 family from the model legume Lotus japonicus. We found that this chromovirus is stochastically de-repressed in plant populations regenerated from de-differentiated cells and that LORE1a transposes in the male germline. Bisulfite sequencing of the 5' LTR and its surrounding region suggests that tissue culture induces a loss of epigenetic silencing of LORE1a. Since LTR promoter activity is pollen specific, as shown by the analysis of transgenic plants containing an LTR::GUS fusion, we conclude that male germline-specific LORE1a transposition in pollen grains is controlled transcriptionally by its own cis-elements. New insertion sites of LORE1a copies were frequently found in genic regions and show no strong insertional preferences. These distinctive novel features of LORE1 indicate that this chromovirus has considerable potential for generating genetic and epigenetic diversity in the host plant population. Our results also define conditions for the use of LORE1a as a genetic tool.

  8. Long-term tinnitus suppression with linear octave frequency transposition hearing AIDS.

    Directory of Open Access Journals (Sweden)

    Elisabeth Peltier

    Full Text Available Over the last three years of hearing aid dispensing, it was observed that among 74 subjects fitted with a linear octave frequency transposition (LOFT hearing aid, 60 reported partial or complete tinnitus suppression during day and night, an effect still lasting after several months or years of daily use. We report in more details on 38 subjects from whom we obtained quantified measures of tinnitus suppression through visual analog scaling and several additional psychoacoustic and audiometric measures. The long-term suppression seems independent of subject age, and of duration and subjective localization of tinnitus. A small but significant correlation was found with audiogram losses but not with high frequency loss slope. Long-term tinnitus suppression was observed for different etiologies, but with a low success rate for sudden deafness. It should be noted that a majority of subjects (23 had a history of noise exposure. Tinnitus suppression started after a few days of LOFT hearing aid use and reached a maximum after a few weeks of daily use. For nine subjects different amounts of frequency shifting were tried and found more or less successful for long-term tinnitus suppression, no correlation was found with tinnitus pitch. When the use of the LOFT hearing aid was stopped tinnitus reappeared within a day, and after re-using the LOFT aid it disappeared again within a day. For about one third of the 38 subjects a classical amplification or a non linear frequency compression aid was also tried, and no such tinnitus suppression was observed. Besides improvements in audiometric sensitivity to high frequencies and in speech discrimination scores, LOFT can be considered as a remarkable opportunity to suppress tinnitus over a long time scale. From a pathophysiological viewpoint these observations seem to fit with a possible re-attribution of activity to previously deprived cerebral areas corresponding to high frequency coding.

  9. Prenatal Diagnosis of Transposition of the Great Arteries over a 20-Year Period: Improved but Imperfect

    Science.gov (United States)

    Escobar-Diaz, Maria C; Freud, Lindsay R; Bueno, Alejandra; Brown, David W; Friedman, Kevin; Schidlow, David; Emani, Sitaram; del Nido, Pedro; Tworetzky, Wayne

    2015-01-01

    Objective To evaluate temporal trends in prenatal diagnosis of transposition of the great arteries with intact ventricular septum (TGA/IVS) and its impact on neonatal morbidity and mortality. Methods Newborns with TGA/IVS referred for surgical management to our center over a 20-year period (1992 – 2011) were included. The study time was divided into 5 four-year periods, and the primary outcome was rate of prenatal diagnosis. Secondary outcomes included neonatal pre-operative status and perioperative survival. Results Of the 340 patients, 81 (24%) had a prenatal diagnosis. Prenatal diagnosis increased over the study period from 6% to 41% (p<0.001). Prenatally diagnosed patients underwent a balloon atrial septostomy (BAS) earlier than postnatally diagnosed patients (0 vs. 1 day, p<0.001) and fewer required mechanical ventilation (56% vs. 69%, p=0.03). There were no statistically significant differences in pre-operative acidosis (16% vs. 26%, p=0.1) and need for preoperative ECMO (2% vs. 3%, p=1.0). There was also no significant mortality difference (1 pre-operative and no post-operative deaths among prenatally diagnosed patients, as compared to 4 pre-operative and 6 post-operative deaths among postnatally diagnosed patients). Conclusion The prenatal detection rate of TGA/IVS has improved but still remains below 50%, suggesting the need for strategies to increase detection rates. The mortality rate was not statistically different between pre- and postnatally diagnosed patients; however, there were significant pre-operative differences with regard to earlier BAS and less mechanical ventilation. Ongoing study is required to elucidate whether prenatal diagnosis confers long-term benefit. PMID:25484180

  10. Congenital cervical cysts, sinuses, and fistulae in pediatric surgery.

    Science.gov (United States)

    LaRiviere, Cabrini A; Waldhausen, John H T

    2012-06-01

    Congenital cervical anomalies are essential to consider in the clinical assessment of head and neck masses in children and adults. These lesions can present as palpable cystic masses, infected masses, draining sinuses, or fistulae. Thyroglossal duct cysts are most common, followed by branchial cleft anomalies and dermoid cysts. Other lesions reviewed include median ectopic thyroid, cervical teratomas, and midline cervical clefts. Appropriate diagnosis and management of these lesions requires a thorough understanding of their embryology and anatomy. Correct diagnosis, resolution of infectious issues before definitive therapy, and complete surgical excision are imperative in the prevention of recurrence. Copyright © 2012 Elsevier Inc. All rights reserved.

  11. Prenatal education for congenital toxoplasmosis.

    Science.gov (United States)

    Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

    2015-10-23

    Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 May 2015), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials of all types of prenatal education on toxoplasmosis infection during pregnancy. Cluster-randomized trials were eligible for inclusion. Two review authors independently assessed trials for inclusion and risk of bias, extracted data and checked them for accuracy. Two cluster-randomized controlled trials (RCTs) (involving a total of 5455 women) met the inclusion criteria. The two included trials measured the effectiveness of the intervention in different ways, which meant that meta-analysis of the results was not possible. The overall quality of the two studies, as assessed using the GRADE approach, was low, with high risk of detection and attrition bias in both included trials.One trial (432 women enrolled) conducted in Canada was judged of low methodological quality. This trial did not report on any of the review's pre-specified primary outcomes and the secondary outcomes reported results only as P values. Moreover, losses to follow-up were high (34%, 147 out of 432 women initially enrolled). The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. The second trial conducted in France was also judged of low methodological quality. Losses to follow-up were also high (44.5%, 2233 out of 5023 women initially enrolled) and differential (40% in the intervention group and 52% in the control group). The authors concluded that prenatal education for congenital toxoplasmoses has a

  12. Radionuclide angiocardiography in the diagnosis of congenital heart disorders

    International Nuclear Information System (INIS)

    Jones, R.H.; Austin, E.H.; Peter, C.A.; Sabiston, D.C. Jr.

    1981-01-01

    Radionuclide angiocardiography provides a noninvasive assessment of cardiac function and blood flow through the heart and lungs. During the past three years, this procedure has been used at the Duke University Medical Center for evaluation of 343 patients with congenital heart disorders. A review of this experience shows tat the resulting data were frequently useful in the surgical management of these patients. In patients with abnormal blood flow patterns, noninvasive imaging of blood flow was useful before and after operative correction. Radionuclide measurements of left-to-right intracardiac shunts were sufficiently accurate for use in the initial evaluation of patients with murmurs and to document the absence of shunt after operative closure of intracardiac septal defects. Moreover, measurements of right-to-left cardiac shunts were of benefit in the management of children with cyanotic heart disease. Measurements of left ventricular function obtained during rest and exercise were most useful in patients with origin of the left coronary artery from the pulmonary artery and in patients with congenital valvular insufficiency. This experience demonstrates that radionuclide angiocardiography provides important measurements of central hemodynamics and cardiac function which are useful in the management of patients with congenital heart disorders

  13. Priming paradigm reveals harmonic structure processing in congenital amusia.

    Science.gov (United States)

    Tillmann, Barbara; Gosselin, Nathalie; Bigand, Emmanuel; Peretz, Isabelle

    2012-09-01

    Deficits for pitch structure processing in congenital amusia has been mostly reported for melodic stimuli and explicit judgments. The present study investigated congenital amusia with harmonic stimuli and a priming task. Amusic and control participants performed a speeded phoneme discrimination task on sung chord sequences. The target phoneme was sung either on a functionally important chord (tonic chord, referred to as "related target") or a less important one (subdominant chord, referred to as "less-related target"). Correct response times were faster when the target phoneme was sung on tonic chords rather than on subdominant chords, and this effect was less pronounced, albeit significant, in amusic participants. These data report for the first time a deficit in congenital amusia for chord processing, but also provide evidence that, despite this deficit, amusic individuals have internalized sophisticated syntactic-like functions of chords in the Western tonal musical system. This finding suggests that thanks to this musical knowledge, amusic individuals could develop expectancies for musical events, and, presumably, follow the tension-relaxation schemas in Western tonal music, which also influence emotional responses to music. Copyright © 2012 Elsevier Srl. All rights reserved.

  14. MANAGEMENT OF CONGENITAL SYMMASTIA WITH Z PLASTY : A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Biswajit

    2015-03-01

    Full Text Available BACKGROUND : Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (sym meaning 'together', and mastos meaning 'breast' and was first presented by Spence et al. in 1983. Two forms of symmastia exist: congenital and acquir ed form. Congenital symmastia is a rare condition in which web - like soft tissue traverses the sternum to connect the breasts medially. There is few publication of this condition. Treatment options for this condition are also few. MATERIAL AND METHOD : Thoug h Periareolar approach, and vertical reduction mammoplasty has been described as a method to reduce the size of the breast as well as correct symmastia . We used z plasty in our case because the patient was not willing for reduction of the size of the breas t. RESULT : The patient had well defined midline groove, symmetric breast on each side. CONCLUSION : Z plasty can be an innovative method for creation of midline groove in congenital symmastia in patients of low socioeconomic status as an alternative to redu ction mammoplasty and liposuction

  15. Interactions of cognitive and auditory abilities in congenitally blind individuals.

    Science.gov (United States)

    Rokem, Ariel; Ahissar, Merav

    2009-02-01

    Congenitally blind individuals have been found to show superior performance in perceptual and memory tasks. In the present study, we asked whether superior stimulus encoding could account for performance in memory tasks. We characterized the performance of a group of congenitally blind individuals on a series of auditory, memory and executive cognitive tasks and compared their performance to that of sighted controls matched for age, education and musical training. As expected, we found superior verbal spans among congenitally blind individuals. Moreover, we found superior speech perception, measured by resilience to noise, and superior auditory frequency discrimination. However, when memory span was measured under conditions of equivalent speech perception, by adjusting the signal to noise ratio for each individual to the same level of perceptual difficulty (80% correct), the advantage in memory span was completely eliminated. Moreover, blind individuals did not possess any advantage in cognitive executive functions, such as manipulation of items in memory and math abilities. We propose that the short-term memory advantage of blind individuals results from better stimulus encoding, rather than from superiority at subsequent processing stages.

  16. New Technologies for Surgery of the Congenital Cardiac Defect

    Directory of Open Access Journals (Sweden)

    David Kalfa

    2013-07-01

    Full Text Available The surgical repair of complex congenital heart defects frequently requires additional tissue in various forms, such as patches, conduits, and valves. These devices often require replacement over a patient’s lifetime because of degeneration, calcification, or lack of growth. The main new technologies in congenital cardiac surgery aim at, on the one hand, avoiding such reoperations and, on the other hand, improving long-term outcomes of devices used to repair or replace diseased structural malformations. These technologies are: 1 new patches: CorMatrix® patches made of decellularized porcine small intestinal submucosa extracellular matrix; 2 new devices: the Melody® valve (for percutaneous pulmonary valve implantation and tissue-engineered valved conduits (either decellularized scaffolds or polymeric scaffolds; and 3 new emerging fields, such as antenatal corrective cardiac surgery or robotically assisted congenital cardiac surgical procedures. These new technologies for structural malformation surgery are still in their infancy but certainly present great promise for the future. But the translation of these emerging technologies to routine health care and public health policy will also largely depend on economic considerations, value judgments, and political factors.

  17. Actual state of imaging diagnosis in congenital cardiopaties

    International Nuclear Information System (INIS)

    Leon Galindo, Jorge

    2005-01-01

    The congenital cardiac illnesses can be diagnosed through different procedures, such as echocardiography two-dimensional trans-thoracic and trans-esophagus, fetal echocardiogram, heart catheterism, three-dimensional echocardiography, three-dimensional helical on-line tomography or magnetic resonance. Some heart anomalies are of such a complexity that becomes necessary the use of methods complementary diagnoses that they give a bigger space orientation of the structures with three-dimensional character and their relationship with adjacent systems, so the pathology can understand each other and to interpret in an exact way before making a surgical correction. In a same way, when being methods of recent development, it is important to find a balance between the academic development and the readiness of this technology like an alternative in front of the conventional options in the diagnostic phase. The three-dimensional images, with the on-line helical tomography, promises to generate a revolution in the diagnosis of the congenital cardiopatie with the purpose of allowing the obtaining of more and more reliable information and of better quality, so the behaviors to continue are those most guessed right ones. With this initial approach toward these new methods diagnoses in congenital cardiopatie, intend to evaluate the possibilities that at this time are imposed as complementary methods to the current ones

  18. Congenital adrenal hyperplasia: Case report.

    OpenAIRE

    Jaime Avaria E.; María José Vargas F.; Loreto Triviño F.; Andrea Gleisner E.

    2013-01-01

    INTRODUCTION: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease whose main cause is the deficiency of 21-hydroxylase, an enzyme involved in the synthesis of cortisol and aldosterone. There are two forms of CAH, a classical and nonclassical form, being the first objective of analysis in the clinical case. Its clinical manifestations vary in severity, depending on the level of hormone deficiency. Within the classic is described the salt-wasting form, whose consequences are ...

  19. Congenital unilateral hydrocephalus - CT findings

    International Nuclear Information System (INIS)

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

    2000-01-01

    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

  20. 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.

  1. Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

    NARCIS (Netherlands)

    Bellini, Carlo; Mazzella, Massimo; Arioni, Cesare; Campisi, Corradino; Taddei, Gioconda; Tomà, Paolo; Boccardo, Francesco; Hennekam, Raoul C.; Serra, Giovanni

    2003-01-01

    We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary

  2. [Surrogate mothers and ovarian transposition: two attitudes to be considered in young women with cervical carcinoma. A case report].

    Science.gov (United States)

    Giacalone, P L; Sobierajksi, J; Benos, P; Giovannini, N; Laffargue, F; Hédon, B

    2003-02-01

    In cases of cervical cancer, there are 2 major advantages to preserving the ovaries, with or without transposition: hormone function is maintained during subsequent cancer treatment and patient quality of life is improved. We report the first case of pregnancy in a surrogate mother following stimulation of a transposed ovary before irradiation and chemotherapy for a squamous cell carcinoma of the uterine cervix. Because of the wide dissemination of information on the technical progress in this area, patients are now in a position to make therapeutic choices that are no longer guided by strictly medical considerations.

  3. Orthodontic management of bilateral maxillary canine-first premolar transposition and bilateral agenesis of maxillary lateral incisors: a case report.

    Science.gov (United States)

    Di Palma, Elena; Di Giuseppe, Biagio; Tepedino, Michele; Chimenti, Claudio

    2015-01-01

    Maxillary canine-first premolar transposition (Mx.C.P1) is an uncommon dental positional anomaly that may create many orthodontic problems from both esthetic and functional points of view. In this report we show the orthodontic management of a case of Mx.C.P1 associated with bilateral maxillary lateral incisor agenesis and unilateral mandibular second premolar agenesis The patient was treated with a multibracket appliance and the extraction of the lower premolar. treatment was completed without the need for any prosthetic replacement.

  4. RISK FACTORS IN CHILD CONGENITAL MALFORMATIONS

    OpenAIRE

    Alina-Costina LUCA; Mirabela SUBOTNICU

    2015-01-01

    Congenital heart malformations are among the most common congenital malformations. Congenital heart malformations occur due to genetic and environmental factors during embryonic morphogenesis period of the heart. About 25% of these malformations are severe, requiring intervention immediately after birth or in infancy. Abnormalities of structure and function of the heart and great vessels are the consequence of teratogenic factors occurring between day 19 and 45 of gestation. (Yagel et al...

  5. Hip dysplasia and congenital hip dislocation

    Energy Technology Data Exchange (ETDEWEB)

    Lingg, G.; Nebel, G.; von Torklus, D.

    1981-11-01

    In human genetics and orthopedics quite different answers have been given to the question of hereditary transmission and frequency of hip dysplasia in families of children with congenital hip dislocation. We therefore have made roentgenometric measurements of 110 parents of children with congenital hip dislocation. In 25% we found abnormal flat acetabulae, whereas 12% had pathologic deep hips. This may propose a new concept of morphology of congenital hip dysplasia.

  6. Congenital pseudoarthrosis associated with venous malformation

    International Nuclear Information System (INIS)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N.; Hamamy, H.; Al-Hadidi, S.

    2007-01-01

    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.)

  7. 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.)

  8. Clinical, chromosomal and endocrine studies for congenital adrenal hyperplasia

    International Nuclear Information System (INIS)

    Soliman, S.E.; Shousha, M.; Hafez, M.

    2006-01-01

    Severe forms of congenital adrenal hyperplasia are potentially fatal if unrecognized and untreated. The aim of this study was to clarify the clinical presentation together with the chromosomal and laboratory associations in this syndrome. Twenty four patients diagnosed as congenital adrenal hyperplasia were referred from Children's Hospital, Cairo University, Egypt, for hormonal and chromosomal workup. The age ranged from eight months to 19 years with mean age of 3.18 years. Twenty two patients were diagnosed as classic congenital adrenal hyperplasia (CAH) syndrome. Severe salt wasting form was present in ten patients whereas simple virilisation was the presenting manifestation in twelve patients. Two patients presented as late onset congenital adrenal hyperplasia (LOCAH). The sex of rearing was female in 18 cases and male in six cases. Genitography and sonography confirmed the presence of female internal organs in all cases. Advanced bone age was evident by radiographic studies. Although the karyotyping was 46,XX in all cases, the diagnosed correct sex was delayed in six cases. Serum concentrations of 17-hydroxyprogesterone (17.OH.P), dehydroepiandrosterone sulfate (DHEAS), delta, 4-androstenedione (D4A), testosterone (T) and 11-deoxycortisol were all elevated as compared to controls. It was found that the adrenal androgens DHEAS, D4A and T were more elevated in salt losers when compared to simple virilising patients. However, this difference was statistically non-significant. The present study demonstrates that the clinical examination and laboratory investigations are necessary for the early detection and treatment of these cases to avoid major medical and psychological problems for the patients and their parents

  9. Clinical, Chromosomal and Endocrine Studies for Congenital Adrenal Hyperplasia

    International Nuclear Information System (INIS)

    Shousha, M.A.; Somaya, E.T.; Attia, M.

    2007-01-01

    Several forms of congenital adrenal hyperplasia are potentially fatal if unrecognized and untreated. The aim of this study is to throw light on the clinical presentation together with chromosomal and laboratory associations in this syndrome. Twenty four patients diagnosed as congenital adrenal hyperplasia were referred from the Diabetic Endocrine Metabolic Pediatric Unit [DEMPU], Children's Hospital, Cairo University for hormonal and chromosomal workup. Twenty two patients were diagnosed as classic congenital adrenal hyperplasia (CAH) syndrome. Sever salt wasting form was present in ten patients whereas simple virilization was the presenting manifestation in twelve patients. Two patients presented as late onset congenital adrenal hyperplasia (LOCAH). The mean age was 3.18 years, ranging from eight months to 19 years. The sex of rearing was Female in 18 cases and male in six cases. Genitography and sonography confirmed the presence of female internal organs in all cases. Advanced bone age was evident by radiographic studies. Although the karyotyping was (46,XX) in all cases, the correct sex diagnosis was delayed in 6 cases. Serum concentrations of 17-hydroxyprogesterone (17.OH.P); Dehydroepiandrosterone sulfate (DHEAS); Delta,4-androstenedione (D 4 A); Testosterone and 11-deoxycortisol were all elevated in relation to controls. We found that the adrenal androgens DHEAS, delta 4A, and T were more elevated in salt losers when compared to simple virilizing patients. However, this difference was not of statistical significance. The present study demonstrates that clinical examination and laboratory investigations are necessary for early detection and treatment of hese cases to avoid major medical and psychological problems for the patients and their parents.

  10. 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. 

  11. Congenital heart defects and extracardiac malformations.

    Science.gov (United States)

    Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

    2013-06-01

    To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

  12. Congenital hypothyroidism presenting with postpartum bradycardia

    International Nuclear Information System (INIS)

    Kara, S.; Tayman, C.; Tonbul, A.; Tatli, M.; Andiran, N.; Turkay, S.

    2013-01-01

    Congenital hypothyroidism is a clinical condition characterized by lack of thyroid hormone because of thyroid gland developmental and thyroid hormone biosynthesis disorders. The most common cause of permanent hypothyroidism is congenital factors. Prompt diagnosis is critical. However, overt signs of hypothyroidism are rarely present at birth, and 95% of affected babies are asymptomatic. Hypoxemia, apnea, acidosis, increased intracranial pressure, vagal stimulus and central nerve system abnormalities represent the most common causes of bradycardia in the neonate. Bradycardia associated with congenital hypothyroidism is very rare. In this paper, a case of severe congenital hypothyroidism, induced by maternal blocker antibodies, who presented with bradycardia, is reported. (author)

  13. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  14. 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....... CRS and who are congenitally deafblind. Results: None of the hypotheses could be confirmed when individuals with CRS were compared to a control group of individuals who were congenital deafblind with different aetiology than CRS. Conclusions: This study concludes that those health related problems...

  15. A rare combination: congenital factor VII deficiency with Chiari malformation.

    Science.gov (United States)

    Bay, Ali; Aktekin, Elif; Erkutlu, Ibrahim

    2015-12-01

    Congenital factor (VII) deficiency is a rare bleeding disorder. We present a patient with congenital FVII deficiency and congenital hydrocephalus who underwent a ventriculoperitoneal shunt operation and needed no prophylaxis after the procedure.

  16. Congenital hydrocephalus in clinical practice : A genetic diagnostic approach

    NARCIS (Netherlands)

    Verhagen, J. M. A.; Schrander-Stumpel, C. T. R. M.; Krapels, P. C.; de Die-Smulders, C. E. M.; van Lint, F. H. M.; Willekes, C.; Weber, J. W.; Gavilanes, A. W. D.; Macville, M. V. E.; Stegmann, A. P. A.; Engelen, J. J. M.; Bakker, J.; Vos, Y. J.; Frints, S. G. M.

    2011-01-01

    Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of

  17. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Khattab, Ahmed; Yuen, Tony; Sun, Li; Yau, Mabel; Barhan, Ariella; Zaidi, Mone; Lo, Y M Dennis; New, Maria I

    2016-01-01

    A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administration of low-dose dexamethasone initiated before the 9th week of gestation. In 7 of 8 at-risk pregnancies, the unaffected fetus is unnecessarily exposed to dexamethasone for weeks until the diagnosis of classical CAH is ruled out by invasive procedures. This therapeutic dilemma calls for early prenatal diagnosis so that dexamethasone treatment can be directed to affected female fetuses only. We describe the utilization of cell-free fetal DNA in mothers carrying at-risk fetuses as early as 6 gestational weeks by targeted massively parallel sequencing of the genomic region including and flanking the CYP21A2 gene. Our highly personalized and innovative approach should permit the diagnosis of CAH before genital development begins, therefore restricting the purposeful administration of dexamethasone to mothers carrying affected females. © 2016 S. Karger AG, Basel.

  18. Transposition of the basic safety standards. Potential impact on French laws and regulations

    Energy Technology Data Exchange (ETDEWEB)

    Godet, J.L.; Perrin, M.M.; Saad, N.; Bardelay, C. [Autorite de Surete Nucleaire (ASN), Paris (France)

    2013-07-01

    The new proposal for a Council Directive laying down basic safety standards for protection against the dangers arising from exposure to ionising radiation is about to be adopted. Member States shall bring into force the laws, regulations and administrative provisions necessary to comply with this Directive within 4 years after adoption of the final text. As far as France is concerned, these evolutions will mainly impact the labour code (for occupational issues) and the public health code for both legal and regulatory requirements. The most significant improvements of the current version of the project are the introduction of graded approach to regulatory control and the enhancement of requirements for protection against natural radiation sources (in particular exposure to radon and naturally occurring radioactive material). This project also aims at achieving a better harmonisation between Member States for topics such as the organization of radiation protection for workers, the justification of medical devices and non-medical imaging exposure situations. ASN has already identified major issues for the transposition of the Directive concerning both French laws and regulations. Main topics should concern the impact of ICRP terminology (planned exposure situation, existing exposure situation versus lasting exposure situation, reference level versus maximum activity level for exposure to radon..) and the extension of both justification and optimisation principles to new activities involving natural radiation sources, such as industries processing naturally occurring radioactive material. Furthermore, France will have to decide whether it will adjust some positions about the prohibition of nonmedical imaging exposures and the release of materials from regulatory control according to generic values. Indeed, the project mentions the possibility to introduce derogations to those major principles. Finally, and according to the graded approach, the project introduces a new

  19. Optimization of the representativeness and transposition approach, for the neutronic design of experimental programs in critical mock-up

    International Nuclear Information System (INIS)

    Dos-Santos, N.

    2013-01-01

    The work performed during this thesis focused on uncertainty propagation (nuclear data, technological uncertainties, calculation biases,...) on integral parameters, and the development of a novel approach enabling to reduce this uncertainty a priori directly from the design phase of a new experimental program. This approach is based on a multi-parameter multi-criteria extension of representativeness and transposition theories. The first part of this PhD work covers an optimization study of sensitivity and uncertainty calculation schemes to different modeling scales (cell, assembly and whole core) for LWRs and FBRs. A degraded scheme, based on standard and generalized perturbation theories, has been validated for the calculation of uncertainty propagation to various integral quantities of interest. It demonstrated the good a posteriori representativeness of the EPICURE experiment for the validation of mixed UOX-MOX loadings, as the importance of some nuclear data in the power tilt phenomenon in large LWR cores. The second part of this work was devoted to methods and tools development for the optimized design of experimental programs in ZPRs. Those methods are based on multi-parameters representativeness using simultaneously various quantities of interest. Finally, an original study has been conducted on the rigorous estimation of correlations between experimental programs in the transposition process. The coupling of experimental correlations and multi-parametric representativeness approach enables to efficiently design new programs, able to answer additional qualification requirements on calculation tools. (author) [fr

  20. Nature of unstable insertional mutations and reversions at the cut locus of Drosophila melanogaster: Molecular mechanism for transpositional memory

    International Nuclear Information System (INIS)

    Mizrokhi, L.Yu.; Georgieva, S.G.; Obolenkova, L.A.; Priimyagi, A.F.; Gerasimova, T.I.; Il'in, Yu.V.

    1988-01-01

    A segment of the cut locus containing an mdg4 insertion as a result of ct MR and ct MRp10 mutations was cloned. Clones were obtained for the phenotypically different ct MR2 and ct MRpN10 mutants and for stable and unstable revertants. All mutations studied are associated with mdg4 insertion at an identical nucleotide sequence of the cut locus, the same site at which mdg4 is inserted at the ct 6 allele. The ct MRpN line differs from ct MR2 in that the mobile element jockey (3 kbp) is inserted in mdg4. Jockey is represented by about 1,000 copies per genome; it is homogeneous and lacks long terminal repeats (LTRs). In stable ct + reversions, mdg4 is completely excised. In unstable ct + reversions, in which there is a high degree of reverse directed transposition of mdg4 to the cut locus, an LTR of mdg4 is preserved at the site of the mutation. It is a sequence along which new copies of mdg4 or jockey-containing mdg4 are inserted into the genome. The authors discuss a molecular mechanism for transpositional memory involving homologous recombination of the remnant LTR and circular extrachromosomal copies of mdg4

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

    Science.gov (United States)

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

    2013-01-01

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

  2. Study of cognitive sphere in children and adolescents with congenital myopathy (theoretical review

    Directory of Open Access Journals (Sweden)

    V. A. Erokhina

    2013-08-01

    Full Text Available This paper presents an analysis of current approaches to the study of states of higher mental functions in children and adolescents suffering from various forms of hereditary myopathies. The aim of this work is to study the theoretical rationale and the possibility of specific disorders of mental function in children and adolescents with congenital myopathies. To achieve this objective during the study it was necessary to solve the following problems: give a description of the various groups and forms of congenital myopathies, their clinical characteristics; justify the possibility of considering the hereditary myopathies as a factor in the formation of changes in visual-spatial activities and thinking; evaluate the possibility to use complex neuropsychological psycho-diagnostic techniques for investigating the state of the higher mental functions of children with congenital myopathies. The possibility of neuropsychological correction for this category of patients is discussed also.

  3. The Indication of Surgical Treatment and Visual Rehabilitation in the Congenital Cataracts

    Directory of Open Access Journals (Sweden)

    Uğur Keklikçi

    2005-01-01

    Full Text Available Congenital cataracts constitute an important part of blindness in childhood. It’s a curable disease which is one of the most common causes of blindness in childhood. Main treatment is surgical operation. Timing of surgery, appropriate and rapid post sur- gery visual rehabilitation have a major effect on prognosis. Surgery should be perfor-med as soon as possible after the diagnosis in order to prevent amblyopia.Visual rehabi- litation of congenital cataract includes optical correction and amblyopia treatment. The most effective treatment of amblyopia is occlusion therapy. In this article congenital cataracts were evaluated in the light of recent literature and the importance of the timing of surgery and visual rehabilitation were attempted to be emphasized.

  4. Sickle Cell Disease with Cyanotic Congenital Heart Disease: Long-Term Outcomes in 5 Children.

    Science.gov (United States)

    Iannucci, Glen J; Adisa, Olufolake A; Oster, Matthew E; McConnell, Michael; Mahle, William T

    2016-12-01

    Sickle cell disease is a risk factor for cerebrovascular accidents in the pediatric population. This risk is compounded by hypoxemia. Cyanotic congenital heart disease can expose patients to prolonged hypoxemia. To our knowledge, the long-term outcome of patients who have combined sickle cell and cyanotic congenital heart disease has not been reported. We retrospectively reviewed patient records at our institution and identified 5 patients (3 girls and 2 boys) who had both conditions. Their outcomes were uniformly poor: 4 died (age range, 12 mo-17 yr); 3 had documented cerebrovascular accidents; and 3 developed ventricular dysfunction. The surviving patient had developmental delays. On the basis of this series, we suggest mitigating hypoxemia, and thus the risk of stroke, in patients who have sickle cell disease and cyanotic congenital heart disease. Potential therapies include chronic blood transfusions, hydroxyurea, earlier surgical correction to reduce the duration of hypoxemia, and heart or bone marrow transplantation.

  5. Adrenomyeloneuropathy associated with congenital cataract

    International Nuclear Information System (INIS)

    Komori, Tetsuo; Nagashima, Toshiko; Hirose, Kazuhiko; Tanabe, Hitoshi; Tsubaki, Tadao

    1988-01-01

    Two cases of adrenomyeloneuropathy (AMN) in a family and the results of their MRI study are reported. Case 1, a 24-year-old male proband, was admitted to our hospital because of gait disturbance for three years. Bilateral cataracts were pointed out at birth, which required left side lenticotomy at age four. Neurological examinations on admission revealed a marked spastic paraparesis with pathological reflexes and a mild hypesthesia in the distal part of the left leg. No abnormal findings were detected in X-ray studies on the spine and spinal cord, electromyography and nerve conduction test. Serum very long chain fatty acids (VLCFAs) levels were apparently elevated, and the serum cortisol response to ACTH was low. Case 2, a 53-year-old woman, is the mother of Case 1 having a complaint of gait disturbance since age 51. She presented a mild spastic paraparesis with localized hypesthesia in the distal part of the both legs. She also had bilateral congenital cataracts. Her serum VLCFAs analysis indicated the intermediate levels between that of AMN and the normal control. Adrenal functions were normal. Cranial MRI (TR 2,000 msec/TE 80 msec) study disclosed high signal intensity areas in bilateral internal capsules in Case 1. These findings, suggesting the pathological change of dysmyelination, seemed to be well compatible with the clinical pictures. With these clinical findings and the laboratory data, these two cases were diagnosed as AMN. In addition, association of congenital cataract with AMN in both cases was characteristic in this family, which hasn't been reported in the literature. On regarding the genetic background of these two disorders, AMN and congenital cataract, it was speculated that each gene could be closely located on the same or very adjacent locus, possibly on Xq. (author)

  6. Surgery for congenital choanal atresia.

    Science.gov (United States)

    Cedin, Antonio C; Atallah, Alvaro N; Andriolo, Régis B; Cruz, Oswaldo L; Pignatari, Shirley N

    2012-02-15

    Congenital choanal atresia is a rare abnormality characterized by unilateral or bilateral lack of patency of the posterior end of the nasal cavity. With an incidence of 1:5000 to 1:8000 births, it is twice as prevalent in females as it is in males. Surgical procedures aim to provide adequate functional choanal patency and a low rate of restenosis, avoid harm to any structure in development, enable shorter surgery and hospitalization times, and minimize morbidity and mortality. To evaluate the effectiveness and safety of the available surgical techniques for the treatment of congenital choanal atresia in patients with unilateral and bilateral atresia. We searched the Cochrane Ear, Nose and Throat Disorders Group Trials Register; the Cochrane Central Register of Controlled Trials (CENTRAL); PubMed; EMBASE; CINAHL; Web of Science; BIOSIS Previews; Cambridge Scientific Abstracts; ISRCTN and additional sources for published and unpublished trials. The date of the search was 31 January 2011. We planned to include parallel randomized or quasi-randomized controlled trials testing surgical approaches for the treatment of congenital atresia (irrespective of gender and age) that evaluated normal/adequate respiratory function (self reported or preserved nasal airway) and restenosis as the main primary outcomes. We did not consider reoperation and non-congenital atresia (e.g. traumatic, iatrogenic atresias) for inclusion. Three review authors independently assessed the titles and abstracts of the identified articles to determine potential relevance. For dichotomous and continuous variables, we planned to calculate risk ratios (relative risks; RR) and mean differences (MD) with 95% confidence intervals (CI), respectively. We planned to use the random-effects model since we were expecting substantial clinical and methodological heterogeneity. No randomized controlled trials were identified. From the 120 reports retrieved using our search strategy, 46 primary studies had the

  7. 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

  8. Schizencephaly/congenital cerebral clefts

    International Nuclear Information System (INIS)

    Friedman, H.; Naidich, T.P.

    1987-01-01

    Schizencephaly (from the Greek meaning ''split brain''), is a term developed in the 1940s to explain symmetric clefts in the brain seen at autopsy in children with histories of severe neurologic defects. Use of the term has been expanded to include a variety of cerebral clefts. A review of the experience at Children's Memorial Hospital as well as case materials made available to the authors are presented, including CT, MR imaging, and US findings. Theories of etiology and pathogenesis of these congenital clefts, associated anomalies, and the spectrum of appearance of these clefts are discussed

  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 segmental dilatation of the colon

    African Journals Online (AJOL)

    Congenital segmental dilatation of the colon is a rare cause of intestinal obstruction in neonates. We report a case of congenital segmental dilatation of the colon and highlight the clinical, radiological, and histopathological features of this entity. Proper surgical treatment was initiated on the basis of preoperative radiological ...

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

    African Journals Online (AJOL)

    Recognised syndromes were seen in 69(68%) cases. Down syndrome with 54 children contributed 78.3% of those with known syndromes. Other identified syndromes and associations were Marfan's, Noonan's, Edwards, Prune Belly, Apert, Ellis-van creveld syndrome and congenital rubella syndrome. Congenital heart ...

  12. The genetic landscape of familial congenital hydrocephalus.

    Science.gov (United States)

    Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

    2017-06-01

    Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

  13. Congenital lobar emphysema: Is surgery routinely necessary ...

    African Journals Online (AJOL)

    Congenital lobar emphysema (CLE) is a rare congenital abnormality characterised by overinflation of a pulmonary lobe. Its aetiology is unknown. The management of CLE has traditionally been surgical. A newborn boy with a birthweight of 2.5 kg was delivered at full-term by caesarian section due to food delivery.

  14. 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.

  15. Congenital malformations in paediatric and neurosurgical practices ...

    African Journals Online (AJOL)

    Congenital malformations in paediatric and neurosurgical practices: problems and pattern (A preliminary report) ... Open Access DOWNLOAD FULL TEXT ... over a 5-year period (1998 to 2002) with congenital anomalies to the Paediatric Surgery and Neurosurgery units of the University Teaching Hospital, Ilorin, Nigeria.

  16. 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...

  17. Genetics Home Reference: congenital central hypoventilation syndrome

    Science.gov (United States)

    ... Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit ... BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr ...

  18. 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

  19. Health in adults with congenital heart disease

    NARCIS (Netherlands)

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

    2016-01-01

    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

  20. Role of angiocardiography in the diagnosis and management of complex/complicated congenital heart disease

    International Nuclear Information System (INIS)

    Ling Jian; Liu Yuqing

    2006-01-01

    Objective: To evaluate the role of angiocadiography (ACG) in the diagnosis and management of complex/complicated congenital heart disease (CHD). Methods: A retrospective study of ACG findings in 360 cases with complex/complicated CHD was performed with a comparision to that of echocardiography (Echo) and related clinical examination. Results: The present series of CHD cases included pulmonary atresia with ventricular septal defect in 75 cases, double outlet of right ventricle in 62 cases, Fallot's tetralogy in 60 cases, single ventricle in 52 cases, transposition of the great arteries in 42 cases, tricuspid valve atresia in 15 cases, coronary abnormality in 6 eases, total abnormal pulmonary venous connection in 5 cases, total endocardial cushion defect in 5 cases, persistent truncus arteriosus in 4 cases, pulmonary atresia with normal ventricular septum in 3 cases, other disorders in 7 eases, and postsurgical operation in 24 cases. ACG was superior to that of Echo in demonstrating the abnormalities of systemic, pulmonary, and coronary arteries and their branches of complex/complicated CHD as well as measuring the pressure of pulmonary artery, vein, and systemic-pulmonary collateral vessels. Conclusion: In the diagnosis and differential diagnosis of knotty cases with complex and complicated CHD, particularly in the demonstration of full view of systemic, pulmonary, and coronary arterial branches and accurate measurement of' pulmonary arterial pressure/resistance, and atrial, ventricular, and systemic arterial pressure, ACG (including DSA) still plays an important and irreplaceable role. (authors)

  1. The alteration of interelemental ratios in myocardium under the congenital heart disease (SRXRF)

    International Nuclear Information System (INIS)

    Trunova, V.A.; Zvereva, V.V.; Okuneva, G.N.; Levicheva, E.N.

    2007-01-01

    It is the myocardium that bears the basic functional loading during heart working, including muscle contractility and enzyme activity. The elemental concentrations in myocardium tissue of heart were determined by SRXRF technique. Our investigation is systematical: the elemental content in each compartment (left and right ventricles, left and right auricles) of hearts of healthy and diseased children (congenital heart diseases, transposition of main vessels (TMV)) was analyzed. The elemental distribution in myocardium of four heart chambers of human fetuses was also analyzed. Following elements were determined: S, Cl, K, Ca, Cr, Mn, Fe, Ni, Cu, Zn, As, Se, Br, Rb, Sr. It was revealed that the elemental concentrations in myocardium of both ventricles are almost constant in heart of fetuses and healthy children. The transition from pre-natal study (fetus) to post-natal study is accompanied by the redistribution of chemical elements in myocardium. The higher concentrations of S, Fe, Ca, Sr and Cu in myocardium of children are observed, the content of K, Br, Rb and especially Se is lower than in heart of fetuses. The elemental distribution in myocardium of children TMV is considerably different in comparison with the healthy children: the higher levels of Cu are observed. The content of Se is lower

  2. A "blind" vascular ring in association with congenital cystic adenomatoid malformation: A case report.

    Science.gov (United States)

    Xia, Bo; Hong, Chun; Tang, Jing; Liu, Cuifen; Yu, Gang

    2017-12-01

    The occurrence of congenital cystic adenomatoid malformation (CCAM) and vascular ring (VR) is extremely rare. We present a case of left CCAM with VR consisting of a left aortic arch and right descending aorta with left tracheal compression causing atelectasis. A high-risk male neonate with the diagnosis of left CCAM was diagnosed at 20 weeks gestational age by antenatal ultrasound. Chest CT revealed multiple cysts in the left inferior lung. Cardiac CT showed VR consisting of a left aortic arch and right descending aorta with left tracheal compression causing atelectasis. left inferior lobectomy was performed. Cardiac CT showed VR consisting of a left aortic arch and right descending aorta with left tracheal compression causing atelectasis. Descending aorta transposition was performed. The patient recovered smoothly and remained asymptomatic during the 12-months of postoperative follow-up period. We report this rare case of CCAM with VR consisting of left aortic arch and right descending aorta with left tracheal compression causing atelectasis. From the findings of this report, early surgical treatment is recommended. Although the prognosis after surgery remained good, second surgery can be avoided if VR was detected early. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  3. 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.

  4. MRI of congenital pituitary insufficiency

    International Nuclear Information System (INIS)

    Almeida Magalhaes, Alvaro C. de; Uehara, Karla C.; Iezzi, Denise

    1995-01-01

    We compare 1,5 T magnetic resonance (MR) image findings in 193 patients with congenital pituitary congenital insufficiency. One hundred and thirty nine of the MR studies were obtained in patients who had isolated growth hormone deficiency. Other fifth - four patients had multiple pituitary hormone deficiency. On MR images, normal anterior and posterior lobes of the pituitary glands can be clearly differentiated because the posterior lobe has a characteristic high intensity on TI-weighted images. In fifty-four patients, the high- intensity of the posterior lobe was not seen, but a similar high signal intensity was observed at the proximal stump in fifty-one patients. this high- intensity area is the newly formed ectopic posterior lobe, which also secrets anti-diuretic hormone just as the posterior lobe would. MR imaging can demonstrate the transection of the pituitary stalk and the formation of the ectopic lobe, revealing to be a useful diagnostic tool in the definition of the type of alteration in growth defects of endocrine origin. (author)

  5. Corpuscular radiation and congenital anomalies

    International Nuclear Information System (INIS)

    Sato, Shinji; Yajima, Akira

    1983-01-01

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

  6. Corrective Jaw Surgery

    Medline Plus

    Full Text Available ... and Craniofacial Surgery Cleft Lip/Palate and Craniofacial Surgery A cleft lip may require one or more ... find out more. Corrective Jaw Surgery Corrective Jaw Surgery Orthognathic surgery is performed to correct the misalignment ...

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

    Directory of Open Access Journals (Sweden)

    М. О. Makarova

    2017-04-01

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

  8. A comparison of surgical outcome of fasciocutaneous V–Y advancement flap and Limberg transposition flap for recurrent sacrococcygeal pilonidal sinus disease

    Directory of Open Access Journals (Sweden)

    Bahadır Öz

    2017-05-01

    Conclusion: Limberg transposition flap may be use in recurrent cases of PSD, because of the lower recurrence rate and less hospital stay time, early return to work. Most important advantage of fasciocutaneous V–Y advancement flap is the ability to close larger defects in recurrent cases.

  9. Familial hypercholesterolemia and atherosclerosis in cloned minipigs created by DNA transposition of a human PCSK9 gain-of-function mutant

    DEFF Research Database (Denmark)

    Al-Mashhadi, Rozh Husain; Sørensen, Charlotte Brandt; Kragh, Peter M.

    2013-01-01

    dominant hypercholesterolemia and accelerates atherosclerosis in humans. Using Sleeping Beauty DNA transposition and cloning by somatic cell nuclear transfer, we created Yucatan minipigs with liver-specific expression of human D374Y-PCSK9. D374Y-PCSK9 transgenic pigs displayed reduced hepatic low...

  10. Relationship between interatrial communication, ductus arteriosus, and pulmonary flow patterns in fetuses with transposition of the great arteries: prediction of neonatal desaturation.

    Science.gov (United States)

    Vaujois, Laurence; Boucoiran, Isabelle; Preuss, Christophe; Brassard, Myriam; Houde, Christine; Fouron, Jean C; Raboisson, Marie-Josée

    2017-09-01

    The relationship between interatrial communication, ductus arteriosus, and pulmonary flow in transposition of the great arteries and intact ventricular septum may help predict postnatal desaturation. Echocardiographic data of 45 fetuses with transposition of the great arteries and intact ventricular septum and 50 age-matched controls were retrospectively reviewed. Interatrial communication, left and right ventricular output, flow in the ductus arteriosus, as well as effective pulmonary flow were measured. Patients were divided into two groups on the basis of postnatal saturations: group 1 had saturations ⩽50% and group 2 >50%. Of 45 fetuses, 13 (26.7%) were classified into group 1. Compared with fetuses in group 2, they had a smaller interatrial communication (2.9 versus 4.0 mm, p=0.004) and more retrograde diastolic flow in the ductus arteriosus (92 versus 23%, p=0.002). Both groups showed a significant decrease in ductal flow compared with controls. Patients in group 2 had a higher effective pulmonary flow compared with controls. There was a mild correlation between left ventricular output and size of the interatrial communication (Spearman's rank correlation 0.44). A retrograde diastolic flow is present in most of the fetuses with postnatal desaturation. Fetuses with transposition of the great arteries have a lower flow through the ductus arteriosus compared with controls. Fetuses without restrictive foramen ovale have higher effective pulmonary flow. Peripheral pulmonary vasodilatation due to higher oxygen saturation in pulmonary arteries in the case of transposition of the great arteries could be one possible cause.

  11. Evaluation of the uniformity of wide circular reference source and application of correction factors; Avaliação da uniformidade de fonte extensa de referência circular e aplicação de fatores de correção

    Energy Technology Data Exchange (ETDEWEB)

    Silva Junior, I.A.; Xavier, M.; Siqueira, P.T.D.; Sordi, G.A.A.; Potiens, M.P.A., E-mail: iremarjr@gmail.com [Instituto de Pesquisas Energéticas e Nucleares (IPEN/CNEN-SP), São Paulo, SP (Brazil)

    2017-07-01

    In this work the uniformity of wide circular reference sources is evaluated. This kind of reference source is still widely used in Brazil. In previous works wide rectangular reference sources were analyzed and it was shown the importance of the application of correction factors in calibration procedures of radiation monitors. Now a transposition of the methods used formerly is performed, evaluating the uniformities of circular reference sources and calculating the associated correction factors. (author)

  12. [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.

  13. Cardiovascular magnetic resonance in congenital heart disease

    International Nuclear Information System (INIS)

    Cazacu, A.; Ciubotaru, A.

    2010-01-01

    The increasing prevalence of congenital heart disease can be attributed to major improvements in diagnosis and treatment. Cardiovascular magnetic resonance imaging plays an important role in the clinical management strategy of patients with congenital heart disease. The development of new cardiovascular magnetic resonance (CMR) techniques allows comprehensive assessment of complex cardiac anatomy and function and provides information about the long-term residual post-operative lesions and complications of surgery. It overcomes many of the limitations of echocardiography and cardiac catheterization. This review evaluates the role of cardiovascular magnetic resonance imaging modality in the management of subject with congenital heart disease (CHD). (authors)

  14. Congenital anomalies of the neonatal head

    International Nuclear Information System (INIS)

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

    1987-01-01

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

  15. Etiological evaluation of primary congenital hypothyroidism cases.

    Science.gov (United States)

    Bezen, Diğdem; Dilek, Emine; Torun, Neşe; Tütüncüler, Filiz

    2017-06-01

    Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study. Thyroid hormon levels were evaluated and thyroid ultrasonography was performed in cases who are at the end of their 3 years of age, after 6 weeks of thyroxine free period. Thyroid sintigraphy was performed if serum thyroid-stimulating hormone was high (≥ 5 mIU/mL) and perchlorate discharge test was performed if uptake was normal or increased on sintigraphy. Cases with thyroid-stimulating hormone levels ≥ 5 mIU/mL were defined as permanent primary congenital hypothyroidism group and as transient primary congenital hypothyroidism group with normal thyroid hormones during 6 months. The mean age was 3.8±0.7 years. Mean diagnosis age was 16.6±6.5 days and 14 cases (29.2%) were diagnosed by screening program of Ministry of Health. There were 23 cases (14F, 9M) in permanent primary congenital hypothyroidism group and 12 (52.2%) of them were dysgenesis (8 hypoplasia, 4 ectopia), and 11 (47.8%) dyshormonogenesis. In transient primary congenital hypothyroidism group, there were 25 cases (17M, 8F). The mean thyroid-stimulating hormone levels at diagnosis were similar in two groups. The mean thyroxin dose in permanent primary congenital hypothyroidism group was significantly higher than transient group at the time of thyroxin cessation (2.1±0.7, 1.5±0.5 mg/kg/d, respectively, p=0.004). Thyroxin dose ≥1.6 mcg/kg/d was 72% sensitive and 69.6% specific for predicting permenant primary congenital hypothyroidism. Transient primary

  16. Epidemiology of congenital diaphragmatic hernia in Europe

    DEFF Research Database (Denmark)

    McGivern, Mark R.; Best, Kate E.; Rankin, Judith

    2015-01-01

    INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT). METHODS: Cases of CDH...... for isolated cases (ie, CDH cases that did not occur with any other congenital anomaly). There was significant variation in total and isolated CDH prevalence between registers. The proportion of cases that survived to 1 week was 69.3% (1392 cases) for total CDH cases and 72.7% (1107) for isolated cases...

  17. Congenital Amegakaryocytic Thrombocytopenic Purpura (CAMT)

    International Nuclear Information System (INIS)

    Ghauri, R. I.; Naveed, M.; Mannan, J.

    2014-01-01

    Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, autosomal recessive disorder induced by mutations of the gene coding for thrombopoietin (TPO) receptor (c-MPL) despite high levels of serum TPO. Patients initially present with isolated thrombocytopenia that subsequently progresses into pancytopenia. Although the mechanisms leading to aplasia are unknown, the age of onset has been reported to depend on the severity of the c-MPL functional defect. The primary treatment for CAMT is bone marrow transplantation. This report describes a newborn girl who presented to us with symptoms of sepsis but septic profile came negative except thrombocytopenia. Bone marrow biopsy was done for thrombocytopenia which revealed amegakaryocytic thrombocytopenia. She was given prednisolone. (author)

  18. Imaging of congenital diaphragmatic hernias

    International Nuclear Information System (INIS)

    Taylor, George A.; Estroff, Judy A.; Atalabi, Omolola M.

    2009-01-01

    Congenital diaphragmatic hernias are complex and life-threatening lesions that are not just anatomic defects of the diaphragm, but represent a complex set of physiologic derangements of the lung, the pulmonary vasculature, and related structures. Imaging plays an increasingly important role in the care of these infants. Prenatal sonography and MRI have allowed early and accurate identification of the defect and associated anomalies. These tools have also been the key to defining the degree of pulmonary hypoplasia and to predicting neonatal survival and need for aggressive respiratory rescue strategies. In the postnatal period, conventional radiography supplemented by cross-sectional imaging in selected cases can be very useful in sorting out the differential diagnosis of intrathoracic masses, in the detection of associated anomalies, and in the management of complications. Understanding the pathogenesis of diaphragmatic defects, the underlying physiologic disturbances, and the strengths and limitations of current imaging protocols is essential to the effective and accurate management of these complex patients. (orig.)

  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. Congenital rubella syndrome in Haiti

    Directory of Open Access Journals (Sweden)

    Golden Nancy

    2002-01-01

    Full Text Available Objective. To determine if there is an unrecognized problem of congenital rubella syndrome (CRS in Haiti, a country without a national rubella immunization program. Methods. During March 2001 and June 2001, screening physicals were conducted on approximately 80 orphans at three orphanages in Haiti that accept disabled children. Children were classified as probable CRS cases based on established clinical criteria. Photo documentation of findings was obtained whenever possible. Results. Six children met the criteria for probable CRS. Using data from surrounding Caribbean countries and from the United States of America prior to rubella immunization, we estimated that there are between 163 and 440 new cases of CRS per year in Haiti. Conclusions. CRS exists in Haiti, but its presence is generally unrecognized. A national rubella immunization policy should be considered.