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Sample records for congenital corrected transposition

  1. CT in congenitally-corrected transposition of the great vessels.

    PubMed

    Takasugi, J E; Godwin, J D; Chen, J T

    1987-01-01

    Congenitally-corrected transposition of the great vessels (CTGV) may be detected de novo in adulthood and the plain radiographic findings may be ambiguous or they may be mimicked by a mediastinal mass. CT readily shows the malposition of the aorta and pulmonary artery, and may also show associated congenital heart lesions. The following cases demonstrate the CT findings in CTGV and the distinction of CTGV from conditions resembling it on radiographs.

  2. A case of congenitally corrected transposition of the great arteries discovered on coronary computed tomography.

    PubMed

    Marler, Adam T; Slim, Jennifer N; Batts, Travis; Watts, James; Slim, Ahmad M

    2013-01-01

    Congenitally corrected transposition of the great arteries is a rare condition accounting for less than 1% of all congenital cardiac diseases. The fundamental nature of this condition involves a blend of atrioventricular as well as ventriculoarterial discordance. Congenitally corrected transposition of the great arteries is classically associated with three additional abnormalities, including ventricular septal defect, right ventricular outflow tract obstruction, and tricuspid valve abnormalities. Patients with this anomaly have been shown to exhibit reduced exercise tolerance as well as reduced health-related quality of life when compared to patients with normal cardiovascular anatomy. We present the case of a 33-year-old active duty lieutenant in the United States Air Force referred to the cardiology clinic for evaluation of valvular heart disease with subsequent discovery of congenitally corrected transposition of the great arteries on cardiac gated computed tomography.

  3. Management of labour and delivery in congenitally corrected transposition of great arteries.

    PubMed

    Dhir, S; Racine, J; Gratton, R; Bergin, L; de Vrijer, B

    2015-11-01

    A descriptive case report of the labour and delivery management of a 28-year-old woman who presented with congenitally corrected transposition of great arteries, dextrocardia, systemic ventricular dysfunction and junctional tachycardia. Patients with congenitally corrected transposition have a thin-walled morphological right ventricle as the systemic circulatory pump. The stress of increased cardiac output can lead to congestive heart failure, systemic atrioventricular valve regurgitation and arrhythmias. We used minimally invasive continuous cardiac output monitoring, fluid balance optimization and good maternal pain control to prevent decompensation and achieve vaginal delivery with a good maternal and neonatal outcome. © 2015 The Acta Anaesthesiologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  4. Cardiac resynchronization therapy: a potential option for congenitally corrected transposition of the great vessels.

    PubMed

    Krishnan, Kousik; Avramovitch, Naomi A; Kim, Michael H; Trohman, Richard G

    2005-12-01

    The use of cardiac resynchronization therapy in patients with QRS prolongation (left-sided interventricular conduction delay) and symptomatic (New York Heart Association class III and IV) heart failure despite optimal medical therapy is well established. This case report describes the use of cardiac resynchronization therapy to treat symptomatic congestive heart failure in 2 patients with congenitally corrected transposition of the great vessels.

  5. Transthoracic echocardiography study of congenitally corrected transposition of the great arteries.

    PubMed

    Singh, Amarjit; Singh, Gurpreet; Dhaliwal, Tejveer S; Singh, Manpreet

    2017-02-09

    Congenitally corrected transposition of the great arteries (CCTGA) is a rare congenital heart defect, occurring in only 0.5% of patients exhibiting congenital heart defects. Because it is not seen in a routine transthoracic echocardiography (TTE) examination, CCTGA may be missed. The echocardiography diagnosis of CCTGA is difficult and not well explained in most textbooks. The present report provides key sonographic images that contribute to the diagnosis. In the present case, the patient had no prior history of heart disease. TTE revealed that the patient had CCTGA and early tricuspid regurgitation with right ventricle enlargement and hypertrophy. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound, 2017.

  6. Congenitally corrected transposition of the great vessels: localization of the site of complete atrioventricular block using his bundle electrograms.

    PubMed

    Foster, J R; Damato, A N; Kline, L E; Akhtar, M; Ruskin, J N

    1976-09-01

    Complete atrioventricular block proximal to the bundle of His in a patient with congenitally corrected transposition of the great vessels was documented using His bundle electrograms. The spontaneous rhythnm probably originated from the bundle of His and was responsive to carotid sinus massage, atropine and isometric and treadmill exercise. These electrophysiologic observations are consistent with recent anatomic studies of congenitally corrected transposition of the great vessels.

  7. The prenatal diagnosis of, and short-term outcome for, patients with congenitally corrected transposition.

    PubMed

    Chiappa, Enrico; Micheletti, Angelo; Sciarrone, Andrea; Botta, Gianni; Abbruzzese, Piero

    2004-06-01

    Congenitally corrected transposition is a rare congenital anomaly, with only a few cases diagnosed and reported prenatally even in the largest fetal series. To determine the morphologic features and outcome for the lesion as recognized during fetal life, we reviewed the fetal and postnatal echocardiograms and medical records of 11 consecutive cases of congenitally corrected transposition. These were identified among 230 (4.7%) consecutive cases of structural cardiac disease referred to our fetal cardiology unit over a period of 4 years. The mean gestational age at diagnosis was 24.7 weeks. Reasons for referral were suspected complete transposition, abnormal position of the heart, and bradyarrhythmias. Associated cardiac lesions included an abnormal cardiac position in 6 cases, ventricular septal defect in 8, obstruction of the subpulmonary outflow tract in 6, tricuspid valvar displacement in 5, and complete atrioventricular block in 2. Only 3 of the cases had mild tricuspid regurgitation prior to birth. Termination was chosen in 4 cases with severe obstruction to pulmonary flow. Of the remaining cases, 2 patients died at 3 and 12 months after birth, respectively. Both developed significant tricuspid regurgitation associated with unexpected major arrhythmias. The remaining 5 patients are alive and relatively well at a mean follow-up of 25.4 months. An epicardial pacemaker was inserted in 1 because of complete atrioventricular block. We conclude that prenatal counseling must be guarded following the diagnosis of congenitally corrected transposition, even in fetuses with an apparently favorable state at initial examination. Some of these cases may undergo major and unexpected changes, particularly with regard to cardiac rhythm and tricuspid valvar function, with concomitant significant changes in prognosis.

  8. [Anatomic correction of the congenitally corrected transposition of the great vessels by the first successful "double switch" operation in Hungary].

    PubMed

    Hartyánszky, István; Bodor, Gábor; Tamás, Csaba; Héthársi, Balázs; Környei, László

    2006-07-16

    Congenitally corrected transposition of the great arteries is a rare defect characterized by discordant atrioventricular and ventriculoarterial connections. Symptoms result from one or a combination of associated cardiovascular malformations, including ventricular septal defect, pulmonary stenosis or atresia, tricuspid valve dysfunction, dextrocardia, hypoplastic left or right ventricle. Correcting exclusively the associated defects, leaving the morphologic right ventricle in systemic position, will determine the patient's life-long prognosis. Anatomic repair by double switch technique may improve survival of patients with congenitally corrected transposition of the great arteries by establishing the morphologic left ventricle in the systemic circulation. A 3-year-old girl with congenitally corrected transposition of the great arteries, ventricular septal defect, hypoplastic right ventricle, and previous palliative procedure was corrected by double switch technique and patch closure of ventricular septal defect. The authors prefer the double switch procedure inspite of its many surgical challenges because it has very good long-term outcome. The more simple surgery namely the operation of only associated cardiac defects will involve the possibility of deterioration of right ventricular function.

  9. Radionuclide angiography in congenitally corrected transposition of the great vessels in an adult.

    PubMed

    Gal, R; Port, S C

    1987-01-01

    The case of a 34-yr-old man with congenitally corrected transposition of the great vessels is described. Both first-pass and equilibrium radionuclide angiographic data were acquired and demonstrate the value of both studies in delineating the ventricular inversion and the transposed great vessels that are characteristic of this disorder. In addition to the anatomic information, the ejection fractions of the venous and systemic ventricles at rest and during exercise, the lack of any left to right shunt, and the presence of systemic A-V valve insufficiency can all be obtained from the scintigraphic data.

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

    PubMed Central

    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. PMID:28243408

  11. A Case of Congenitally Corrected Transposition of Great Arteries: An Infrequent Happenstance

    PubMed Central

    Medep, Vikas

    2017-01-01

    Congenitally corrected transposition of the great arteries (CCTGA) is rare form of congenital heart diseases. It may be present with or without associated anomalies. Patients with CCTGA are usually diagnosed at early stages of life due to associated anomalies, but they may even remain asymptomatic till later decades of their life. We report a case of a 42-year-old man who presented at neurosurgery department with dizziness, seizures, and loss of consciousness, in whom isolated CCTGA was discovered incidentally. Further investigation depicted right ventricular hypertrophy, mild valvular regurgitation, mildly dilated pulmonary artery, low heart rate with AV dissociation, and third-degree heart block. These indicated for implantation of permanent pacemaker into the patient. The implantation of VVI mode pacemaker was uneventful and the patient is being followed up in the past eight months in favorable condition. PMID:28280512

  12. Acute myocardial infarction with isolated congenitally corrected transposition of the great arteries.

    PubMed

    Zimmermann, Jeremy; Altman, J Ryan; Gantt, D Scott

    2016-04-01

    Congenital cardiac abnormalities diagnosed at the time of acute coronary syndrome are rare. A 43-year-old man presented to the emergency department complaining of recurring, severe chest pain. Subsequent emergent coronary angiography demonstrated unusual coronary anatomy: 1) one small caliber bifurcating vessel originating from the right sinus of Valsalva; 2) one very large vessel arising from the posterior sinus; and 3) no coronary artery from the normal left sinus of Valsalva. The large vessel from the posterior sinus was totally occluded in its midportion and was treated with intravascular ultrasound-guided percutaneous coronary intervention. Further diagnostic workup, including two-dimensional transthoracic echocardiogram and computed tomographic coronary angiography, demonstrated isolated corrected transposition of the great arteries with a dilated systemic ventricle and systolic dysfunction with an ejection fraction of 30%. The patient's clinical course was complicated by recurrent nonsustained ventricular tachycardia, treated with medical therapy and a dual-chamber implantable cardioverter defibrillator. This case is an example of a common clinical presentation with a very uncommon congenital heart disorder. Similar cases may become more frequent as the number of adult congenital heart patients increases in the population.

  13. [Congenitally corrected transposition of the great vessels in adulthood. The value of noninvasive study methods].

    PubMed

    Weidmann, B; Hänseler, T; Jansen, W; Geppert, R; Mathas, B; Tauchert, M

    1994-08-26

    A 57-year-old man with a cough and increasing exertional dyspnoea for the past 6 weeks was found on examination to have a loud systolic murmur and cardiomegaly with pulmonary congestion. Echocardiography revealed congenitally corrected transposition of the great arteries (cTGA: atrioventricular and ventriculoarterial discordance): a morphologically right ventricle with a tricuspid valve on the left, a morphologically left ventricle with bicuspid a-v valve on the right, the aorta arising ventrally from the left-sided (morphologically right) ventricle. The tricuspid valve showed an Ebstein-like anomaly with obvious regurgitation. Transoesophageal and contrast echocardiography defined valvar anatomy, attachment of the great arteries and cardiac chambers to the venous and arterial circulations, as well as absence of a left to right shunt. Angiography revealed a coronary anatomy typical for cTGA. The exertional dyspnoea responded to diuretics and low doses of ACE inhibitor. Follow-up monitoring of the valvar regurgitation and appropriate endocarditis prophylaxis were recommended. As the haemodynamics in cTGA is normal, in the absence of additional anomalies, it is a congenital cardiac defect which can, though rarely, present first in adulthood. Life expectancy depends on the nature of any additional defects and the degree of commonly associated tricuspid valve regurgitation. As this case demonstrates, echocardiography can largely define the anomalies.

  14. Surgical management of a neonate with congenitally corrected transposition of the great vessels, hypoplastic right aortic arch, and Ebstein anomaly.

    PubMed

    Filippelli, Sergio; Perri, Gianluigi; Kirk, Richard; Hasan, Asif; Griselli, Massimo

    2013-11-01

    We report a neonate with a primary diagnosis of congenitally corrected transposition (ccTGA) of the great vessels, hypoplastic right aortic arch, and a severely regurgitant Ebstein tricuspid valve (TV). During the fetal period, she was listed for heart transplantation, and two weeks after birth due to a deterioration of her general condition, we performed a Norwood-Sano modified procedure. After 58 days a donor heart became available and the baby successfully received a orthotopic heart transplantation.

  15. Assessment of systemic right ventricular function in adult overweight and obese patients with congenitally corrected transposition of the great arteries.

    PubMed

    Kowalik, Ewa; Klisiewicz, Anna; Biernacka, Elżbieta K; Hoffman, Piotr

    2017-01-01

    In congenitally corrected transposition of the great arteries the right ventricle (RV) supports systemic circulation, and patients are prone to develop heart failure over time. Chronic volume overload secondary to obesity may contribute to premature dysfunction of the systemic RV. The aim of our study was to assess the systemic RV function in overweight/obese adult patients with congenitally corrected transposition of the great arteries. Transthoracic echocardiographic studies and laboratory testing (N-terminal pro-B-type natriuretic peptide [NT-proBNP] assessment) were performed in patients with congenitally corrected transposition, who were scheduled for a routine examination, and the body mass index was calculated for each patient. We studied 56 adults (31 men; mean age 33.9 years); 22 of whom were overweight (body mass index [BMI] of 25-29.9 kg/m²) or obese (BMI of 30 kg/m² or more), and 34 of whom were normal weight (BMI below 25 kg/m²). Age, gender, heart rate, and blood pressure were similar in both groups. The mean NT-proBNP levels were not significantly different. On echocardiography, the overweight/obese patients had a decreased systemic RV fractional area change (0.38) compared to normal weight patients (0.43); p = 0.02. Moreover, a significant reduction in the global longitudinal strain in the overweight/obese group was observed (-15.3% vs. -18.3%; p = 0.01). Overweight/obesity in adult patients with congenitally corrected transposition of the great arteries is associated with impaired systemic RV function.

  16. Congenitally corrected transposition of the great arteries in an 83-year-old asymptomatic patient: description and literature review

    PubMed Central

    Placci, Angelo; Lovato, Luigi; Bonvicini, Marco

    2014-01-01

    We describe the case of an 83-year-old asymptomatic man followed in our centre. Transoesophageal echocardiography disclosed congenitally corrected transposition of great arteries (CCTGA) with no associated anomalies and only mild aortic regurgitation. Cardiac MR confirmed the diagnosis and revealed preserved systemic ventricle systolic function with a normal perfusional pathway. This report is a demonstration that CCTGA without associated anomalies can reach older life in an asymptomatic condition. This is the oldest asymptomatic living patient with CCTGA ever described. PMID:25336547

  17. [Cardiac resynchronization therapy in a patient with congenitally corrected transposition of the great arteries and 2:1 atrioventricular block].

    PubMed

    Conte, Giulio; Coppini, Lucia; Demola, Maria Antonietta; Zardini, Marco; Ardissino, Diego

    2012-12-01

    Congenitally corrected transposition of the great arteries (CCTGA) is a rare congenital heart disease with an atrioventricular and ventriculo-arterial discordance in which the morphological right ventricle supports the systemic circulation and the morphological tricuspid valve is the systemic atrioventricular valve. Heart rhythm disturbances and ventricular dysfunction related to electromechanical dyssynchrony are common in adult congenital heart disease patients with a systemic right ventricle. Thus, these patients may require conventional pacemaker implantation, which in the presence of ventricular dysfunction and conduction disease may further compromise cardiac performance. Indeed, cardiac resynchronization therapy may be an effective treatment option for these patients. We report the case of a patient with CCTGA and moderate depression of systemic ventricular systolic function who developed a 2:1 atrioventricular block and was treated with cardiac resynchronization therapy.

  18. Successful ablation of atrioventricular nodal reentrant tachycardia in a patient with coexistent congenitally corrected transposition of the great vessels and situs inversus.

    PubMed

    Ma, Ji; Bian, Chang; Ying, Zhi-Qiang

    2014-01-01

    Congenitally corrected transposition of the great vessels (CTGV) is a rare congenital cardiac and great vessel abnormality. The anomalous inversion of the ventricles and great vessels makes performing catheter ablation difficult. We herein report a successful case of atrioventricular node reentrant tachycardia ablation in a patient with coexistent CTGV and situs inversus.

  19. Radionuclide angiographic evaluation of right and left ventricular function during exercise after repair of transposition of the great arteries. Comparison with normal subjects and patients with congenitally corrected transposition

    SciTech Connect

    Parrish, M.D.; Graham, T.P. Jr.; Bender, H.W.; Jones, J.P.; Patton, J.; Partain, C.L.

    1983-01-01

    We assessed the incidence, clinical significance and etiology of ventricular dysfunction after intraatrial repair of d-transposition of the great arteries in 11 patients, mean age 9 +/- 3 years, who had had Mustard operations. We compared the results to 15 patients who were considered to have normal ventricular function, two patients who had Rastelli operations and five patients with congenitally corrected transposition. Gated equilibrium radionuclide angiography with supine exercise stress testing was used to assess these children. We found no significant difference between our patient groups in exercise capacity, heart rate, or blood pressure response to exercise. However, we found a high incidence of right ventricular dysfunction in the patient groups, manifested by an abnormal right ventricular ejection fraction response to dysfunction in the patient groups, manifested by an abnormal right ventricular ejection fraction response to exercise in six of 11 patients with a Mustard repair, both patients with a Rastelli repair and all five with congenitally corrected transposition. In addition, the left ventricular response to exercise was abnormal in 10 of 11 patients who had undergone a Mustard repair, both patients with a Rastelli repair, and two of five patients with congenitally corrected transposition. We conclude that biventricular dysfunction is frequently present after intraatrial repair of d-transposition of the great arteries. Despite this dysfunction, no significant decrease in exercise tolerance is found in childhood.

  20. The Senning procedure as part of the double-switch operations for congenitally corrected transposition of the great arteries.

    PubMed

    Barron, David J; Jones, Timothy J; Brawn, William J

    2011-01-01

    Anatomic correction of congenitally corrected transposition of the great arteries (ccTGA) has brought about the renaissance of the atrial switch. The Senning procedure has become the most widely used variant because of the lower incidence of pathway obstruction, baffle leak, and significant late arrhythmias. It is for this reason the Senning is discussed in detail here. The technical steps of the Senning are both ingenious and unique amongst cardiac surgical procedures. They must be made as safe and reproducible as possible because the procedure is no longer commonly performed and trainee surgeons may have only very limited exposure to these types of operation. In addition to its infrequency, there are additional technical issues regarding the atrial switch in the setting of ccTGA, particularly in relation to associated malposition of the heart and the conduction system. Outcomes for the Senning procedure in ccTGA have been very good, with early complications being extremely rare. Obstruction to the superior vena cava pathway has been recorded in less than 3% of cases and can usually be managed by interventional catheterization. Late problems with atrial arrhythmias have not been widely reported, but this may reflect the relatively short follow-up for these patient cohorts compared with older series in d-TGA.

  1. Clinical Outcomes after Anatomic Repair Including Hemi-Mustard Operation in Patients with Congenitally Corrected Transposition of the Great Arteries.

    PubMed

    Shim, Man-Shik; Jun, Tae-Gook; Yang, Ji-Hyuk; Park, Pyo Won; Cho, Yang Hyun; Kang, Seok; Huh, June; Song, Jin Young

    2017-03-01

    The aims of this study were to determine the early and late outcomes of anatomic repair of congenitally corrected transposition of the great arteries (ccTGA) and to evaluate effectiveness of the hemi-Mustard procedure. We conducted a retrospective, single-center study of patients who underwent anatomic repair for ccTGA between July 1996 and December 2013. Sixteen patients were included in the study. The median age at the time of the operation was 3.5 years (range: 0.5-29.7), and the median body weight was 13.3 kg (range: 5.8-54). The median follow-up duration was 7.7 years (range: 0.2-17.4). Atrial switch was achieved using the Mustard procedure in 12 patients (hemi-Mustard procedure in 11) or the Senning procedure in four patients. The ventriculoarterial procedure was performed using the Rastelli procedure in 11 patients and arterial switch in five patients. Six patients underwent tricuspid valvuloplasty. The survival rate was 93.8±6.1%. The rate of freedom from reoperation at 5 years was 92.3±7.4% in the Rastelli group. All patients except one were New York Heart Association class I. All patients except one had mild tricuspid regurgitation. Anatomic repair can be performed with a low risk of in-hospital mortality. The hemi-Mustard strategy for selected patients is one solution for reducing early mortality and morbidity, and long-term complications such as venous pathway stenosis or sinus node dysfunction.

  2. Clinical Outcomes after Anatomic Repair Including Hemi-Mustard Operation in Patients with Congenitally Corrected Transposition of the Great Arteries

    PubMed Central

    Shim, Man-shik; Yang, Ji-Hyuk; Park, Pyo Won; Cho, Yang Hyun; Kang, Seok; Huh, June; Song, Jin Young

    2017-01-01

    Background and Objectives The aims of this study were to determine the early and late outcomes of anatomic repair of congenitally corrected transposition of the great arteries (ccTGA) and to evaluate effectiveness of the hemi-Mustard procedure. Subjects and Methods We conducted a retrospective, single-center study of patients who underwent anatomic repair for ccTGA between July 1996 and December 2013. Sixteen patients were included in the study. The median age at the time of the operation was 3.5 years (range: 0.5-29.7), and the median body weight was 13.3 kg (range: 5.8-54). The median follow-up duration was 7.7 years (range: 0.2-17.4). Results Atrial switch was achieved using the Mustard procedure in 12 patients (hemi-Mustard procedure in 11) or the Senning procedure in four patients. The ventriculoarterial procedure was performed using the Rastelli procedure in 11 patients and arterial switch in five patients. Six patients underwent tricuspid valvuloplasty. The survival rate was 93.8±6.1%. The rate of freedom from reoperation at 5 years was 92.3±7.4% in the Rastelli group. All patients except one were New York Heart Association class I. All patients except one had mild tricuspid regurgitation. Conclusion Anatomic repair can be performed with a low risk of in-hospital mortality. The hemi-Mustard strategy for selected patients is one solution for reducing early mortality and morbidity, and long-term complications such as venous pathway stenosis or sinus node dysfunction. PMID:28382075

  3. Atrioventricular node reentrant tachycardia ablation in a patient with congenitally corrected transposition of the great vessels using the CARTO mapping system.

    PubMed

    Eisenberger, M; Fox, D J; Earley, M J; Fitzpatrick, A P; Davidson, N C

    2007-08-01

    We present a case of a 21-year-old female with congenitally corrected transposition of the great vessels and episodes of supraventricular tachycardia. We performed an electrophysiological study and successful ablation using an electro-anatomical mapping system. A single His bundle appeared to be located at the apex of the triangle of Koch and at electrophysiological study there was evidence of triple antegrade AV nodal pathways--slow, intermediate and fast, with two types of AV nodal re-entrant tachycardias. A series of radiofrequency ablations in the right posteroseptal area eliminated both slow and intermediate pathway conduction and cured the tachycardias.

  4. Scintigraphic imaging of a case of congenitally corrected transposition of the great vessels and an adult case of single atrium and single ventricle.

    PubMed

    Ogata, H; Nakata, T; Endoh, A; Tsuchihashi, K; Yonekura, S; Tanaka, S; Tsuda, T; Kubota, M; Iimura, O

    1989-07-01

    We report on the clinical utility of radionuclide angiography and gated blood pool single emission computed tomography (gated blood pool SPECT) in two patients having congenital heart disease. Both conventional equilibrium radionuclide angiography and gated blood pool SPECT demonstrated the connection of the great vessels with both ventricles in a 15-year-old male patient with a congenitally corrected transposition of the great vessels. In particular, the latter procedure could provide very useful information about the ventricular morphology and inversion which is important for diagnosing this disorder. The second case is an extremely rare 42-year-old female patient with a single atrium and single ventricle. She underwent first-pass and multiple gated blood pool angiography from the anterior, right and left oblique views. The combination of these scintigraphic techniques revealed an insufficiency in anatomical correlations among the single atrium, atrioventricular valve, single ventricle and the great vessels in addition to the connection of superior vena cava with the single atrium, and the atrioventricular valve. Thus, conventional equilibrated angiography from multiple views and gated blood pool SPECT seems to be very reliable not only for anatomical evaluation but also for clinical course observation in patients with complicated congenital heart disease.

  5. Surgical technique of double switch procedure: Senning with arterial switch operation for congenitally corrected transposition of the great arteries with ventricular septal defect.

    PubMed

    Ilin, Alexey S; Teplov, Pavel V; Sakovich, Valeriy A; Ohye, Richard G

    2016-01-01

    We present a case of 12-month-old boy with congenitally corrected transposition of great arteries with L-looped ventricles and L-transposition of great arteries and ventricular septal defect. When admitted to the hospital, the patient had the appearance of congestive heart failure due to moderate to severe tricuspid valve regurgitation and right ventricle dysfunction. The pulmonary artery (PA) banding was required first because of low systolic pressure in the morphological left ventricle less than 70% confirmed by catheterization. Three months later, the patient appeared to be a good candidate for anatomical repair and a double switch procedure-Senning with arterial switch-was performed. The early postoperative period was relatively smooth and uneventful. Tricuspid valve insufficiency was resolved immediately after surgery. Mild systolic dysfunction of the left ventricle with mild mitral insufficiency was confirmed by the 2D strain method of echocardiography on the second day of the postoperative period and it improved over the next 21 days. Thirty days later after the procedure, the patient underwent catheterization of his superior vena cava tunnel because of the slightly increased blood flow velocity diagnosed by echocardiography. In 3 months after the surgery, the boy was asymptomatic and was doing well. The patient's functional status was I according to the NYHA classification.

  6. Melody® pulmonary valve implantation in two teenage patients with congenitally corrected transposition of the great arteries status after Senning atrial switch operation.

    PubMed

    Rios, Rodrigo; Foerster, Susan R; Gudausky, Todd M

    2017-04-01

    The Melody® transcatheter pulmonary valve system was developed for placement within right ventricle-to-pulmonary artery conduits in patients with CHD for treatment of stenosis or regurgitation, providing an alternative to open-heart surgery. Abnormal systemic venous connections altering the catheter course to the right ventricle-to-pulmonary artery conduit may present a challenge to Melody® valve implantation. We present two such cases, in which the Melody® valve was successfully implanted in teenage patients with congenitally corrected transposition of the great arteries after Senning atrial switch operation. Despite the abnormal catheter course, the right ventricle-to-pulmonary artery was approachable via the right femoral vein allowing for deployment of the Melody® valve in the appropriate position. This suggests that systemic vein-to-left atrium baffles are not prohibitive of Melody® valve implantation. This is an important implication considering the substantial population of ageing patients with CHD who have undergone atrial switch. Melody® valve implantation can be considered as a viable option for treatment of these patients if they develop right ventricle-to-pulmonary artery conduit failure.

  7. [Corrected transposition of the great arteries].

    PubMed

    Alva-Espinosa, Carlos

    2016-01-01

    Corrected transposition of the great arteries is one of the most fascinating entities in congenital heart disease. The apparent corrected condition is only temporal. Over time, most patients develop systemic heart failure, even in the absence of associated lesions. With current imaging studies, precise visualization is achieved in each case though the treatment strategy remains unresolved. In asymptomatic patients or cases without associated lesions, focalized follow-up to assess systemic ventricular function and the degree of tricuspid valve regurgitation is important. In cases with normal ventricular function and mild tricuspid failure, it seems unreasonable to intervene surgically. In patients with significant associated lesions, surgery is indicated. In the long term, the traditional approach may not help tricuspid regurgitation and systemic ventricular failure. Anatomical correction is the proposed alternative to ease the right ventricle overload and to restore the systemic left ventricular function. However, this is a prolonged operation and not without risks and long-term complications. In this review the clinical, diagnostic, and therapeutic aspects are overviewed in the light of the most significant and recent literature.

  8. Suitability of cardiac resynchronisation therapy in patients with Fontan circulation and congenitally corrected transposition of the great arteries.

    PubMed

    Demetriades, P; Bell, A; Gubran, C; Marshall, H; de Bono, J; Hudsmith, L

    2017-09-02

    Cardiac resynchronisation therapy (CRT) is a well-recognised treatment in systolic heart failure. There is limited evidence in congenital patients with univentricular hearts or systemic right ventricles. In 2014 PACES/HRS published a consensus statement recommending CRT if ventricular ejection fraction (EF)≤35%, QRS duration≥150ms (with RBBB in systemic RV), NYHA II-IV and ventricular dilatation. The incidence of patients meeting these criteria in whom CRT is possible is not known. Retrospective analysis of 203 patients with a univentricular Fontan circulation and 55 patients with ccTGA under specialist ACHD care. Univentricular functional data was available for 194 (96%), 10 (5%) having EF≤35%. QRS duration was available for 190 (94%) and was ≥150ms in five (3%). EF data was available for 54 (98%) ccTGA patients, and was ≤35% in 6 (11%). QRS duration was ≥150ms in 13 (26%). Only four patients fulfilled recommendations and two received CRT. Only a small proportion of patients with single ventricles or ccTGA meet the criteria for CRT. In many of these patients there are significant anatomical barriers to CRT which limit its use in this population. The decision to implant CRT in complex ACHD requires discussion in a combined ACHD electrophysiology surgical multidisciplinary meeting and close collaboration with patients. Crown Copyright © 2017. Published by Elsevier B.V. All rights reserved.

  9. Successful stenting of systemic venous pathway stenosis after double switch repair for congenitally corrected transposition of great arteries in a child.

    PubMed

    Saygılı, Arda; Yalçınbaş, Yusuf; Arnaz, Ahmet; Sarıoğlu, Tayyar

    2014-09-01

    An 8-year-old boy with previous shunt operation for corrected transposition of great arteries, ventricular septal defect, pulmonary stenosis and multiple aortopulmonary collateral arteries underwent corrective surgery. In the early post-operative period, there were clinical findings of superior vena cava obstruction. Cardiac catheterization at 72 h following surgery showed a systemic venous baffle stenosis between the vena cava and right atrium. A stent was successfully implanted in the vena cava percutaneously, and the stenosis was relieved. Her symptoms resolved in a short time period, and she was extubated rapidly. During the follow-up, excellent maintenance and patency of systemic venous baffle were observed.

  10. The results of a two-stage double switch operation for congenital corrected transposition of the great arteries with a deconditioned morphologically left ventricle.

    PubMed

    Cui, Bin; Li, Shoujun; Yan, Jun; Shen, Xiangdong; Wang, Xu; Yang, Keming; Hua, Zhongdong; Wang, Qiang; Tian, Meice

    2014-12-01

    The purpose of this retrospective study was to evaluate a two-stage double switch operation, morphological left ventricular (mLV) retraining followed by an atrial-arterial switch operation, in the management of patients with congenitally corrected transposition of the great arteries (CCTGA) and a deconditioned mLV. Between May 2005 and May 2011, 14 patients with CCTGA and a deconditioned mLV anomaly underwent the two-stage double switch operation. There were eight males and six females aged between 2.5 and 72 months (mean: 34.4 ± 24.0 months) old and weighing from 5 to 23 kg (mean: 12.7 ± 4.9 kg). The major associated malformations included: tricuspid regurgitation (TR, n = 13); restrictive ventricular septal defect (n = 10); atrial septal defect or patent foramen ovale (n = 7); mild pulmonary stenosis (n = 5) and patent ductus arteriosus (n = 4). These patients underwent morphological left ventricular retraining by means of pulmonary artery banding under general anaesthesia, which was then followed by a double switch operation under general anaesthesia and cardiopulmonary bypass. There were no deaths or complications during the hospital stay or follow-up for the mLV retraining. In comparison with preoperative conditions, the mLV end-diastolic diameter (mLVEDd), the posterior wall thickness of the mLV and the mLV/mRV pressure ratio were all increased; the interventricular septum had moved partially to the midline position and TR had decreased. After the atrial-arterial switch procedure, 2 patients died during the perioperative period. The causes of death included serious cardiac arrhythmia with circulatory collapse and sudden death. The others were followed up for 2-8 years: 1 patient died from serious cardiac arrhythmias with circulatory collapse in the follow-up period. With regard to the others, 8 were evaluated as New York Heart Association Functional Class I, and the other 3 as Class II. Moderate aortic valve regurgitation was noted in 3 patients and

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

    PubMed Central

    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

  12. Heart transplantation for corrected transposition of the great vessels.

    PubMed

    Jebara, V A; Dreyfus, G; Acar, C; Deloche, A; Couetil, J P; Fabiani, J N; Carpentier, A

    1990-06-01

    Orthotopic heart transplantation was performed in a patient with corrected transposition of the great vessels. Technical modifications were necessary to be able to transplant a normal heart in this patient. The surgical technique is illustrated.

  13. [The implantation of a sequential endocavitary pacemaker in a patient with transposition of the great vessels after the Mustard correction].

    PubMed

    Padró, J M; Montiel, J; Ruyra, X; Subirana, M; Arís, A; Caralps, J M

    1993-08-01

    A 31-year-old male patient, underwent Mustard operation in childhood for complete transposition of the great arteries. He required a sequential (DDD-mode) pacemaker due to a complete symptomatic auriculoventricular block, 25 years after the operation. Wires were inserted through the left cephalic vein and placed in the systemic atrium and ventricle, achieving correct sensing and stimulating thresholds. Atrial rhythm disturbances, specially sinus node dysfunction, are frequent after Mustard's operation and increase through the years following the surgical procedure. Atrioventricular conduction disturbances are rare. Treatment by endocavitary pacemaker implies a correct knowledge of the special anatomy in this congenital disease and its surgical correction.

  14. Three-dimensional replica of corrected transposition of the great arteries for successful heart transplantation.

    PubMed

    Fujita, Tomoyuki; Fukushima, Satsuki; Fukushima, Norihide; Shiraishi, Isao; Kobayashi, Junjiro

    2017-03-30

    A 59-year-old man who had been previously diagnosed with congenitally corrected transposition of the great arteries at the age of 35 years became a candidate for heart transplantation. At the age of 57 years, he was referred to our hospital and underwent implantation of a left ventricular assist device (EVAHEART; Sun Medical Technology Research Corp., Suwa City, Japan) because of worsening ventricular function and was listed as a heart transplant candidate. A donor appeared when the patient was 59 years. A three-dimensional replica was made using data from computed tomography angiography. The three-dimensional replica was made of soft rubber (crossMedical, Inc., Kyoto, Japan), which enabled the surgeons to understand the relationship between the great arteries and chambers. After repeated dry laboratories using this replica, the patient underwent successful heart transplantation.

  15. Management of congenital diaphragmatic hernia with transposition of the great arteries.

    PubMed

    Nagata, Hazumu; Yamamura, Kenichiro; Nagata, Kouji; Uike, Kiyoshi; Morihana, Eiji; Ihara, Kenji; Yumoto, Yasuo; Fusazaki, Naoki; Kado, Hideaki; Kato, Kiyoko; Taguchi, Tomoaki; Hara, Toshiro

    2016-06-01

    Congenital diaphragmatic hernia (CDH) is a relatively rare malformation, but it has a high mortality rate. Its association with congenital heart disease lowers survival rate due to severe acidosis and desaturation caused by persistent pulmonary hypertension of the neonate. We describe herein a case of CDH with transposition of the great arteries and intact ventricular septum, in a patient who was prenatally diagnosed, managed with extracorporeal oxygenation (ECMO) support and successfully treated with both CDH repair and Jatene procedure, with no respiratory or circulatory sequelae. In conclusion, precise prenatal estimation is essential, and ECMO is a useful therapeutic option in these complex cases.

  16. Electrocardiogram in corrected transposition of the great vessels of the bulbo-ventricular inversion type.

    PubMed

    Fernández, F; Laurichesse, J; Scebat, L; Lenègre, J

    1970-03-01

    Twenty cases of corrected transposition of the great vessels of the bulbo-ventricular inversion type, either lone or combined with other intracardiac anomalies, were analysed. Rhythm and/or atrio-ventricular conduction disturbances were common to all groups of cases. QRS pattern changes were found to be related both to ventricular inversion and to ventricular hypertrophy. Isolated corrected transposition and corrected transposition with systemic ventriculo-atrial regurgitation give rise to tracings suggestive of systemic ventricular hypertrophy.Corrected transposition of the great vessels with pulmonary stenosis or pulmonary artery hypertension is usually accompanied by the electrocardiographic signs of a venous-ventricular hypertrophy, with a characteristic inversion of the normal praecordial pattern. The conventional criteria of ventricular hypertrophy may be applied in corrected transposition of the great vessels but are less reliable than in cases without ventricular inversion. The so-called electrocardiographic pattern of ;ventricular inversion' in this anomaly is related not only to the inverted position of the ventricles but to a greater extent to the predominant, anatomically left, venous-ventricular hypertrophy which re-establishes the normal weight ratio between the anatomically right and anatomically left ventricles.

  17. [Mid-term results after complete surgical correction of transposition of the great arteries].

    PubMed

    Parezanović, Vojislav; Mrdjen, Mirko; Illić, Slobodan; Vulićević, Irena; Djukić, Milan; Jovanović, Ida; Stefanović, Igor; Illisić, Tamara; Kalanj, Jasna; Mimic, Branko; Milovanović, Vladimir

    2014-01-01

    Arterial switch operation (ASO) is a cardiosurgical method of choice for complete anatomical correction of transposition of great arteries. Improvement of this procedure has made considerably improved the outcome and long-term prognosis of children born with this complex congenital heart disease. The aim of this study was to estimate the success rate of ASO through retrospective analysis of mortality and late complications. This study included 57 children operated from 1st January 2005 until 31st December 2009. Parameters that could influence the outcome of surgery were investigated. The following late complications were investigated: neopulmonary artery stenosis, neoaortic stenosis and regurgitation, as well as clinical signs of heart failure. Early postoperative mortality was 15.8% (9/57 patients). During follow-up (8 to 72 months, average 36.5 months) there were no lethal outcomes. On the last echocardiography examination, 73.2% patients had neoaortic regurgitation and 67.4% patients had neopulmonary regurgitation, but all of them were mild in intensity. Neopulmonary stenosis had 32.6% of patients, but only two had moderate or severe stenosis. No one had ischemic ECG changes. Three reinterventions were performed due to serious residual problems: surgical correction of neoaortic stenosis, surgical correction of neopulmonary stenosis and transcatether balloon dilatation for aortic recoarctation. At the end of the follow-up period, only one of 46 consistently followed patients had signs of heart failure which required therapy (2.2%), while the majority of patients were without any symptoms and with good effort tolerance. Arterial switch operation has been successfully performed at our institution, with acceptable perioperative mortality and excellent late outcome.

  18. Anesthetic management of a child with corrected transposition of great vessels undergoing non-cardiac surgery.

    PubMed

    Mathew, Shaji; Umesh, Goneppanavar; Arun Kumar, Handigodu Duggappa; Srinivasan, Nataraj Madagondapalli

    2013-04-01

    We describe the successful anesthetic management of a 14-year-old child, a corrected case of transposition of great vessels in childhood and presently with residual atrial septal defect, peripheral cyanosis, and neurological deficit of lower limb presented for tendoachillis lengthening.

  19. Anesthetic management of a child with corrected transposition of great vessels undergoing non-cardiac surgery

    PubMed Central

    Mathew, Shaji; Umesh, Goneppanavar; Arun Kumar, Handigodu Duggappa; Srinivasan, Nataraj Madagondapalli

    2013-01-01

    We describe the successful anesthetic management of a 14-year-old child, a corrected case of transposition of great vessels in childhood and presently with residual atrial septal defect, peripheral cyanosis, and neurological deficit of lower limb presented for tendoachillis lengthening. PMID:23956725

  20. [Anesthesia for the surgery of delayed postoperative stenosis in the pulmonary suture in children with corrected transposition of the great vessels with Jatene's technique].

    PubMed

    Suán, C; Cerro, J; Ojeda, R; García-Perla, J L

    1996-11-01

    Any patient with congenital heart disease is at high risk for anesthesia no matter what surgical procedure is performed. Children undergoing D-transposition of the great arteries using Jatene's technique present stenosis of the pulmonary artery in 10-20% of cases and may require surgery to correct that or some other surgically caused anomally. In either case the children must be managed as patients with heart disease, with special attention to cardiovascular depression and rhythm abnormalities. We report the cases of two children who underwent D-transposition of the great arteries in the neonatal period using Jatene's anatomical technique. They were later anesthetized at ages 5 and 6 years to correct pulmonary suture stenosis. Recovery was good.

  1. Correction of transposition of the great vessels with previous Baffes procedure.

    PubMed

    Deboer, A; Miller, R; Otto, R

    1975-12-01

    Twenty-four patients with transposition of the great vessels who underwent a Baffes procedure in infancy were totally corrected by a modified Mustard procedure. There were three postoperative deaths and one major complication. All survivors have been followed from 2 to 8 yr and have done well except for one patient who required a tricuspid valve replacement because of tricuspid insufficiency. It is our conclusion that this group of patients can be corrected with a relatively low mortality and a favorable outcome.

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

    PubMed

    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.

  3. Congenitally Corrected Transposition of the Great Arteries (CCTGA)

    MedlinePlus

    ... during your pregnancy and delivery. What kind of cardiology care is recommended for adults with CCTGA? The American Heart Association and the American College of Cardiology classify CCTGA as a highly complex heart defect. ...

  4. Successful closure of ventricular septal defect through a left-sided ventriculotomy in corrected transposition of the great vessels.

    PubMed

    Nagai, I; Kawashima, Y; Fujita, T; Mori, T; Manabe, H

    1976-06-01

    Corrected transposition of the great vessels is often associated with other cardiac anomalies. Ventricular septal defect (VSD) is the most common among them. Closure of a VSD is usually performed through a right-sided ventriculotomy. We had previously closed the VSD through the right-sided ventricle in 2 patients with corrected transposition of the great vessels and in 2 others with double-outlet right ventricle with ventricular inversion, which resulted in complete heart block. Recently we have closed the VSD through the left-sided ventricle in 3 patients with corrected transposition, and no block resulted.

  5. [Complete repair of a corrected transposition of the great vessels by double switch. A case report].

    PubMed

    Chaker, L; Abid, F; Ouarda, F; Msaad, H

    2001-01-01

    We report the observation of a female patient with a corrected transposition of the great arteries, ventricular septal defect and complete atrio-ventricular block. This complex cardiac disease originated heart failure and was discovered at the age of 4 months. This baby has been operated at the age of 7 months, in April 1998. She had a complete repair by the double switch, closure of the ventricular septal defect and implantation of a permanent pace-maker. Short term results are favorable. Total repair of the corrected transposition of the great arteries is currently possible thanks to the recent technique of the double switch. It remains a difficult operation but with satisfactory short term results.

  6. Edge-to-edge repair of tricuspid valve in a corrected transposition of the great vessels.

    PubMed

    Kotoulas, Christophoros; Jones, Robert Peter; Turkie, Wajdi; Hasan, Ragheb

    2008-01-01

    We describe the case of a 27-year-old Caucasian woman with corrected transposition of the great vessels, who presented with cardiac failure. She had severe regurgitation of the systemic tricuspid valve with a huge annulus that was not suitable for annuloplasty. She underwent a successful repair using the Alfieri edge-to-edge technique and was asymptomatic 15 months after surgery. Such a repair has not been reported in the past.

  7. The Spectrum of Congenital Heart Disease with Transposition of the Great Arteries from the Cardiac Registry of the University of Padua

    PubMed Central

    Frescura, Carla; Thiene, Gaetano

    2016-01-01

    Transposition of the great arteries (TGA) is a cardiac condition in which the arterial trunks arise from the inappropriate ventricle: the aorta from the right ventricle and the pulmonary trunk from the left ventricle [discordant ventriculo-arterial (VA) connection]. In complete TGA, the discordant VA connection is associated with situs solitus or inversus and concordant atrioventricular (AV) connection. The hemodynamic consequence of these combined connections is that systemic and pulmonary circulations function in “parallel” rather than in “series”. The presence of situs solitus or inversus associated with both AV and VA discordant connections characterizes a different anatomical complex known as “corrected TGA.” In these hearts, the double discordance at AV and VA levels permits a normal sequence of the blood flow from the right atrium to the pulmonary artery and from the left atrium to the aorta. The systemic and pulmonary circulation in these hearts functions regularly in series, and the blood sequence is “physiologically corrected.” Thus, the term transposition, either complete or corrected, identifies two precise, different anatomical complexes, both characterized by VA discordance. However, among congenital heart disease (CHD), there are other anatomical complexes with discordant VA connection in the setting of isomeric atrial situs (right or left) or of univentricular AV connections (double inlet or absent connections). In these latter conditions, the term “transposition” is still necessary to stress that the great arteries are “transposed” in relation to the ventricular septum (aorta from the right ventricle and pulmonary trunk from the left ventricle) but certainly does not figure out the anatomical complexes named complete or corrected transposition. We reviewed the hearts with discordant VA connection of our Anatomical Collection, consisting of 1,640 specimens with CHD, with the aim to discuss the anatomy and the frequency of the

  8. [Clinical diagnosis of corrected transposition of the great vessels by bulbo-ventricular inversion].

    PubMed

    Scibilia, G; Fernandez, F; Maouad, J; Scebat, L; Lenegre, J

    1975-01-01

    29 cases of corrected transposition of great vessels (CTGV), of which 3 cases were isolated and 26 cases were associated with various malformations were studied. The aim was to make the diagnosis of CTGV were made evident, to differentiate those which came from the associated malformations. The specific signs for CTGV are as follows: 1) a slight systolic ejection murmur at the 2nd or 3rd left intercostal space along the sternal margin; 2) a loud 2nd tone in the same focal zone. Specific radiographic signs are that: 1) the aortic arch comes up to sternal-costal articulation; 2) the inferior left margin has a convex form; 3) in the right oblique-anterior projection it is possible to see 2 imprints on the opaque esophagus, which is represented by the aorta above and pulmonary artery below...

  9. Computer assisted echocardiographic assessment of left ventricular function before and after anatomical correction of transposition of the great arteries.

    PubMed Central

    Arensman, F W; Radley-Smith, R; Grieve, L; Gibson, D G; Yacoub, M H

    1986-01-01

    Left ventricular function before and after anatomical correction of transposition of the great arteries was assessed by computer assisted analysis of 78 echocardiographs from 27 patients obtained one year before to five years after operation. Sixteen patients had simple transposition, and 11 had complex transposition with additional large ventricular septal defect. Immediately after correction mean shortening fraction fell from 46(9)% to 33(8)%. There was a corresponding drop in normalised peak shortening rate from 5.4(3.7) to 3.3(1.1) s-1 and normal septal motion was usually absent. Systolic shortening fraction increased with time after correction and left ventricular end diastolic diameter increased appropriately for age. The preoperative rate of free wall thickening was significantly higher in simple (5.6(2.8) s-1) and complex transposition (4.5(1.8) s-1) than in controls (2.9(0.8) s-1). After operation these values remained high in both the short and long term. Thus, computer assisted analysis of left ventricular dimensions and their rates of change before and after anatomical correction showed only slight postoperative changes which tended to become normal with time. Septal motion was commonly absent after operation. This was associated with an increase in the rate of posterior wall thickening that suggested normal ventricular function associated with an altered contraction pattern. Computer assisted echocardiographic analysis may be helpful in the long term assessment of ventricular function after operation for various heart abnormalities. PMID:3942650

  10. [32 years of Senning's correction for transposition of the great vessels].

    PubMed

    Genoni, M; von Segesser, L; Wilhelm, M; Arbenz, U; Turina, M

    1996-01-01

    Between 1962 and 1994 342 patients with transposition of the great arteries (TGA) were treated by atrial correction. Since 1992 the atrial switch operation is the treatment of choice for TGA. We reviewed our 32 year experience. Average age of the patients at operation was 69 months (7 days--8.5 years). 177/342 (52%) patients had a complex TGA: 74 patients with ventricular septal defect (VSD), 49 patients with pulmonary stenosis (PS) and 54 with both (VSD and PS). The 30 day mortality was for the whole series 15.7%. In the last 4 years 7.5%. The actuarial survival rate for all patients was 88% after 10 years and 82% after 20 years. For simple TGA 91% after 10 years and 83% after 20 years, for complex TGA 84% and 81%. The most important cause of death during our longterm observation were heart failure (19 patients) and sudden death (7 patients). Average follow-up for the whole group was 13.4 years. Most of the survivors are functionally symptom free (66% NYHA I) or they have slight symptoms (29% NYHA II). Only 5% were NYHA III or IV. Arterial switch operation has replaced the atrial correction for TGA. Nevertheless the longterm results after atrial correction remains encouraging. The main threat to the patients is the failure of the systemic ventricle.

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

    SciTech Connect

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

    2003-06-01

    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.

  12. In vivo correction of murine tyrosinemia type I by DNA-mediated transposition.

    PubMed

    Montini, Eugenio; Held, Patrice K; Noll, Meenakshi; Morcinek, Nicolas; Al-Dhalimy, Muhsen; Finegold, Milton; Yant, Stephen R; Kay, Mark A; Grompe, Markus

    2002-12-01

    Gene therapy applications of naked DNA constructs for genetic disorders have been limited because of lack of permanent transgene expression. This limitation, however, can be overcome by the Sleeping Beauty (SB) transposable element, which can achieve permanent transgene expression through genomic integration from plasmid DNA. To date, only one example of an in vivo gene therapy application of this system has been reported. In this report, we have further defined the activity of the SB transposon in vivo by analyzing the expression and integration of a fumarylacetoacetate hydrolase (FAH) transposon in FAH-deficient mice. In this model, stably corrected FAH(+) hepatocytes are clonally selected and stable integration events can therefore be quantified and characterized at the molecular level. Herein, we demonstrate that SB-transposon-transfected hepatocytes can support significant repopulation of the liver, resulting in long-lasting correction of the FAH-deficiency phenotype. A single, combined injection of an FAH-expressing transposon plasmid and a transposase expression construct resulted in stable FAH expression in approximately 1% of transfected hepatocytes. The average transposon copy number was determined to be approximately 1/diploid genome and expression was not silenced during serial transplantation. Molecular analysis indicated that high-efficiency DNA-mediated transposition into the mouse genome was strictly dependent on the expression of wild-type transposase.

  13. [Outcome of anatomical correction of transposition of the great vessels in the neonatal period].

    PubMed

    Zabala Argüelles, J I; Zunzunegui Martínez, J L; de Tomás, E; García Fernández, E J; Maroto Monedero, C; Maroto Alvaro, E; Vázquez López, P; Arcas Mena, R

    1995-01-01

    Between february 1992 to January 1994, anatomic correction was performed on 15 patients with transposition of the great arteries and intact ventricular septum. The mean age was 8.3 +/- 2.9 days and the mean weight 3.39 +/- 0.39 Kg. Before the operation, 13 patients (86.6%) received prostaglandin El infusion and 13 patients (86.6%) underwent Rashkind septostomy. Mean aortic cross-clamps was 56 +/- 11 minutes and mean cardiopulmonary bypass was 108 +/- 91 minutes. Hospital mortality rate was 13%. Mean extubation period was mean discharge from ICU was 13.1 +/- 12.3 days and discharge of hospital was 17.8 +/- 7.5 days. The mean followup period was 11.4 months. All the patients remained asymptomatic with adequate psychomotor and ponderal development. All patients remained in sinus rhythm. Pulmonary suture gradient was over 60 mm Hg in five patients (33%). One patient needed reintervention and four pulmonary artery angioplasty (PAA) that was successful. In the midterm follow-up pulmonary stenosis suture was the most common complication. If the stenosis is severe and PAA should be the initial approach.

  14. Scalp Tissue Expansion Above a Custom-Made Hydroxyapatite Cranial Implant to Correct Sequelar Alopecia on a Transposition Flap.

    PubMed

    Carloni, Raphael; Herlin, Christian; Chaput, Benoit; De Runz, Antoine; Watier, E; Bertheuil, Nicolas

    2016-11-01

    Resection of cranial tumors involving both bone and scalp tissue may require the recruitment of soft tissue using a flap above the bone reconstruction. When a transposition flap has been chosen, the alopecia zone on the donor site may be difficult to treat afterward. Scalp expansion is the gold standard in these situations, but this has never been described above cranial implants. We report the first case of a patient who underwent a scalp tissue expansion above a custom-made hydroxyapatite cranial implant to correct sequelar alopecia. A 30-year-old man presented with a dermatofibrosarcoma of the scalp with bone invasion. A cranioplasty with a custom-made hydroxyapatite implant and a transposition flap were performed. Although healing was achieved, the donor site of the transposition flap left a 9 × 13 cm sequelar alopecia area on the vertex. To correct it, a rectangular 340-cm(3) expander was partially placed above the cranial implant and under the transposition flap. A second 120-cm(3) expander was put on the contralateral temporal region. The expansion was successful. No expander infection, cranial implant displacement, or fracture on imaging performed during the follow-up period was detected. The alopecia zone was entirely excised. The patient was very satisfied with the cosmetic result. Tissue expansion above hydroxyapatite implants may be of concern to the physician because of the risk of infection and rupture of the cranial implant. With this clinical case, we emphasize some precautions to prevent these issues. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Diagnostic dilemma with a narrow QRS regular rhythm at normal rates in a patient with corrected transposition of great arteries

    PubMed Central

    Shenthar, Jayaprakash; Rai, Maneesh K.

    2015-01-01

    A 35 year old male, known case of corrected transposition of great arteries presented with exertional dyspnea and recurrent pre-syncope. 12 lead electrocardiogram revealed a regular rhythm at 75 beats per minute, P waves occurring on the upstroke of T waves and apparent 1:1 P-QRS relationship. The possibilities to be considered – complete AV block with junctional escape, junctional rhythm with 1:1 retrograde conduction, junctional rhythm with isorhythmic AV dissociation and prolonged PR interval have been discussed. PMID:26937115

  16. Diagnostic dilemma with a narrow QRS regular rhythm at normal rates in a patient with corrected transposition of great arteries.

    PubMed

    Shenthar, Jayaprakash; Rai, Maneesh K

    2015-01-01

    A 35 year old male, known case of corrected transposition of great arteries presented with exertional dyspnea and recurrent pre-syncope. 12 lead electrocardiogram revealed a regular rhythm at 75 beats per minute, P waves occurring on the upstroke of T waves and apparent 1:1 P-QRS relationship. The possibilities to be considered - complete AV block with junctional escape, junctional rhythm with 1:1 retrograde conduction, junctional rhythm with isorhythmic AV dissociation and prolonged PR interval have been discussed.

  17. [Anesthesia and perioperative complications of correcting transposition of the great arteries using the Jatene technique].

    PubMed

    Ortega, J L; Neira, F; García-Perla, J L; Gutiérrez, J M

    1994-01-01

    We present a retrospective morbi-mortality study in 12 patients undergoing Jatene's arterial repair for transposition of the great vessels between 1988 and 1992. Half of the patients were boys ranging in age from 4 days to 35 months. In 34% heart failure was grade III, while in 65.6% it was grade IV (NYHA). Anesthetic induction was with ketamine in 11 patients and with halothane in 1. Maintenance was with pancuronium and fentanyl supplemented with N2O in 2 and with isoflurane in 1. The overall intra- and perioperative death rate was 16.6%. Nine cases have undergone surgical repair since 1988 with no mortality. We conclude that Jatene's technique is the best alternative for repair of transposition of the great vessels when there is no hypoplasia of the right cavity.

  18. [Corrected transposition of the great vessels and preexcitation syndrome (apropos of 2 cases)].

    PubMed

    Grolleau, R; Baissus, C; Puech, P

    1977-01-01

    Two cases with treated transposition of the great vessels and incompetence of the left atrioventricular valve showed a type B preexcitation syndrome. In one case, this consisted of a typical W.P.W. syndrome in which the second PR interval was not shortened, but rather consisted of a delta wave and a widened QRS complex. Post mortem examination showed an abnormal connection between the bundle of His and the ventricular septum, and a low insertion of the inverted tricuspid valve. The published cases of W.P.W. syndrome in cases with treated transposition are reviewed, and the mechanism of preexciation discussed in the light of the anatomical peculiarities of the malformation and of the abnormalities which are a feature of Ebstein's syndrome.

  19. Unusual orthodontic correction of bilateral maxillary canine-first premolar transposition.

    PubMed

    Maia, Francisco Ajalmar; Maia, Nair Galvão

    2005-03-01

    Tooth transposition is a subject that intrigues orthodontists because of the associated treatment planning. Approximately 0.3-0.4% of the population has this type of tooth disharmony, and in the literature, most authors are in disagreement about the treatment approach. In this article, a case is presented of bilaterally maxillary canine-first premolar transposition associated with bilaterally upper lateral incisor agenesis treated in a very unusual way. The transposed teeth were orthodontically reversed to their normal sequence and the missing lateral incisor spaces closed. We choose this approach because once the decision was made to close the upper lateral incisor agenesis spaces, it was inadequate to position the upper first premolars in contact with the central incisors.

  20. Chest pain and bilateral atrioventricular valve prolapse with normal coronary arteries in isolated corrected transposition of the great vessels. Clinical, angiographic and metabolic features.

    PubMed

    Cowley, M J; Coghlan, H C; Mantle, J A; Soto, B

    1977-09-01

    A man evaluated for disabling chest pain was found to have isolated anatomically corrected transposition of the great vessels. Angiography demonstrated right and left atrioventricular (A-V) valve prolapse and normal coronary arteries. Atrial pacing produced chest pain, ischemic electrocardiographic changes, abnormal myocardial lactate metabolism and marked elevation of the left ventricular end-diastolic pressure; all of these changes returned to normal on termination of pacing. The association of corrected transposition and bilateral A-V valve prolapse and the possible causes of myocardial ischemia in this patient are discussed.

  1. Retrograde catheterization of the pulmonary veins following surgical correction of transposition of the great vessels.

    PubMed

    Carter, G A

    1976-01-01

    Prior to a Mustard repair for transposition of the great vessels, complete physiologic data of the pulmonary bed can be obtained by catheterization of the pulmonary artery with a "J" formed wire, and direct catheterization of the pulmonary veins via an atrial septal defect. Following "physiologic" repair ready access to the pulmonary veins is denied. Evaluation of the pulmonary venous pressure is of great importance, however, in differentiating pulmonary vascular disease from pulmonary hypertension secondary to patch obstruction of pulmonary venous return. This paper describes a technique of catheterization of the pulmonary veins following a Mustard repair for TGV.

  2. [Correction of ametropia following early surgery of congenital cataract].

    PubMed

    Avetisov, S E

    2003-01-01

    Variants of an approach towards choosing the means for aphakia correction after an early surgery for congenital cataract, made during the first life year of infant, are presented in the case study. The main requirements, which must be applicable to a correction method under the mentioned conditions, are substantiated. The key advantages of contact lenses are shown, from such stand point, versus other correction methods, including spectacles, intraocular lenses and refractive epikeratoplasty. Unstable anatomic-and-optic ocular parameters in the first-year life infants are the principle obstacle for the primary IOL implantation. The issue on a secondary IOL implantation must be individually decided at the age of 10 to 12.

  3. Results of balloon atrial septostomy as preparation for surgical correction in transposition of great arteries.

    PubMed

    Padilla, Tatiana; Zapata, Margarita; Díaz, Luis Horacio; Lince, Rafael; Ruz, Miguel; Guzmán, Mónica; Donado, Juan; Franco, Gloria

    2011-04-01

    Balloon atrial septostomy (BAS) is a palliative procedure performed in the preoperative management of patients with transposition of great arteries (TGA), to improve the mixing of blood between the 2 systems. This report describes experience at the Clínica Cardiovascular Santa Maria in Medellin, Colombia. Between 2002 and 2010, 22 patients with TGA underwent BAS. Patient age at the time of the procedure was 21 days on average; 68% of patients were male. Average weight was 2.96 kg and interatrial gradient was between 4 and 12 mm Hg. The average systemic oxygen saturation at the beginning of the procedure was 60%, with a final saturation of 90%. Z5 atrioseptostomy balloons were used in 18 patients (81%), using Rashkind technique; Tyshak balloon catheters were used in 3 patients (13%) with the Shrivastava technique; and static high-pressure peripheral angioplasty balloons were used in 3 patients (13%). Two patients underwent BAS with 2 types of balloons. Although there were no complications clearly attributable to the procedure, 14% of patients had evidence of focal brain injury on the postoperative magnetic resonance image. Six patients died (27%), 5 of them because of postoperative complications and 1 because of infectious complications at another institution. All postoperative deaths occurred before 2006. The BAS is a safe technique for preoperative stabilization of patients with TGA.

  4. Surgical approach to corrected transposition of the great vessels and situs inversus [I, D, D] with ventricular septal defect and systemic atrioventricular valve regurgitation.

    PubMed

    Watson, D C; Shapiro, S R; Midgley, F M; Scott, L P

    1984-11-01

    Successful surgical repair of a 4-year-old boy with situs inversus [I, D, D] and corrected transposition of the great vessels (TGV) as well as hemodynamically significant ventricular septal defect (VSD), systemic atrioventricular (tricuspid) valve regurgitation, and atrial septal defect is described. Unique technical aspects of VSD and tricuspid valve repair in association with corrected TGV and situs solitus or inversus are discussed and clarified.

  5. Parachute deformity of both atrioventricular valves with congenitally corrected transposition in an adult

    PubMed Central

    Mohan, Jagdish C.; Shukla, Madhu; Sethi, Arvind

    2015-01-01

    A 23-year-young female presented with mild exertional dyspnoea and palpitation since early childhood. By deploying 2D- and 3D echocardiography, she was detected to have situs solitus, atrioventricular and ventriculoarterial discordance with L-malposition of great vessels, valvular pulmonary stenosis, large secundum atrial septal defect, bicuspid aortic valve, right-sided aortic arch, and moderately severe mitral and tricuspid valve regurgitation. Typical parachute deformities of the morphologically mitral and tricuspid valves were observed. 3D echocardiography revealed a single papillary muscle in the morphologically left ventricle placed anteriorly and providing insertion to tendinous cords and only a moderator band with no other muscle bundles in the morphologically right ventricle placed posteriorly and providing attachment to two strings of cords. Considering the minimal symptoms, conservative treatment was pursued. PMID:26702687

  6. Parachute deformity of both atrioventricular valves with congenitally corrected transposition in an adult.

    PubMed

    Mohan, Jagdish C; Shukla, Madhu; Sethi, Arvind

    2015-01-01

    A 23-year-young female presented with mild exertional dyspnoea and palpitation since early childhood. By deploying 2D- and 3D echocardiography, she was detected to have situs solitus, atrioventricular and ventriculoarterial discordance with L-malposition of great vessels, valvular pulmonary stenosis, large secundum atrial septal defect, bicuspid aortic valve, right-sided aortic arch, and moderately severe mitral and tricuspid valve regurgitation. Typical parachute deformities of the morphologically mitral and tricuspid valves were observed. 3D echocardiography revealed a single papillary muscle in the morphologically left ventricle placed anteriorly and providing insertion to tendinous cords and only a moderator band with no other muscle bundles in the morphologically right ventricle placed posteriorly and providing attachment to two strings of cords. Considering the minimal symptoms, conservative treatment was pursued. Copyright © 2015 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

  7. Innovative technique for correction of the congenital lop ear.

    PubMed

    Ho, K; Boorer, C; Khan, U; Deva, A; Chang, L

    2006-01-01

    Congenital lop ear is a deformity affecting the upper third of the ear. It is characterised by varying degrees of lidding of the helix, reduction in the fossa triangularis, scapha compression, reduction or absence of the superior crus of the antihelix and an associated reduction in vertical height of the external ear. Reported strategies for the surgical correction of this deformity include simple excision of the excess overhanging cartilage, radial cartilage incisions of the helix to reverse its memory, various cartilage grafts from the surrounding ear or rib to strut or fill the defect, and mastoid hitching stitches to reinforce the repair. We present a novel technique using a reversed conchal cartilage graft to strut the deformed antihelix. The memory of the reversed conchal cartilage is used to correct lidding of the superior helix and obviates the need for intrinsic cartilage modification or excision. We have found a good aesthetic and structural result in a patient with bilateral congenital lop ear with 12 months follow up.

  8. [Current results of the treatment of transposition of the great vessels. Apropos of a series of 168 cases including 138 physiologic corrections].

    PubMed

    Senellart, F; Normand, J; Bozio, A; André, M; Sassolas, F; Jocteur-Monrozier, D; Champsaur, G

    1987-04-01

    This study takes stock of the current results of physiological correction (Mustard's or Senning's operation) in simple transposition of the great vessels, at a time when anatomical corrections, or detranspositions, are developing. Between January 1, 1974 and December 31, 1984, 168 neonates with simple transposition of the great vessels were operated upon and followed up for a mean period of 3.67 years (up to 11 years and 10 months). Thirty of them died before correction (12.7% mortality rate with palliative surgery) and 15 immediately after corrective surgery (11.2%). Among the 111 children who survived corrective surgery, the results were satisfactory in 62.7%, fair in 17.8% and poor in 10.2%; the late mortality rate was 9.3%. Post-correction morbidity mainly consisted of mechanical complications suspected in one-third of the patients (with 3 consecutive deaths) and heart rhythm disorders (50% of patients in this series had abnormal Holter recordings), with predominance of atrial rhythm disorders (regression of sinus rhythm was 3.82% per annum). This, after correction the survival curve underwent an actuarial regression of 1.31% per annum. This primary and secondary morbidity and mortality justifies a switch to anatomical corrections the results of which remain to be fully evaluated.

  9. [Atrioventricular and ventriculoarterial discordance (corrected transposition of the great vessels). Diagnosis with bidimensional echocardiography].

    PubMed

    Pastor, E; Peña, R; Cabrera, A; Peña, N; Galdeano, J M; Pérez, P; Pilar, J

    1992-12-01

    We present 15 patients with atrioventricular and ventriculoarterial discordance diagnosed with two-dimensional echocardiography from January 1973 to June 1991. The 15 had situs solitus and six dextrocardia. A different level of insertion of the atrioventricular valves worth from 0.77 +/- 0.3 cm, was observed in all the cases which didn't perimembranous inlet ventricular septal defect. Ten patients, presented septal insertion of one of the chords of the left atrioventricular valve, while, this insertion wasn't observed in the right atrioventricular valve. The ventricular morphology and trabeculation, permitted the identification of both ventricles in all the cases. The subxifoidea view resulted in being fundamental, for the examination of the ventriculoarterial connections. Ten cases (66.6%) had an obstruction in the pulmonary outflow tract (6 in the valve and 4 in subvalvular area) and nine (60%) ventricular septal defect (7 perimembranous and 2 muscular). We believe that the two-dimensional echocardiography gives enough information to arrive at the correct diagnosis of this cardiac malformation and of the associated anomalies. This information can be completed with the use of the color-flow Doppler.

  10. Orthodontic treatment of a bilateral cleft lip and palate patient with bilateral tooth transpositions and congenitally missing teeth.

    PubMed

    Tai, Kiyoshi; Park, Jae Hyun; Tanino, Masahiro; Sato, Yasumori

    2010-01-01

    Treatment of patients with a cleft lip and palate can be challenging. A boy, 15 years 11 months old, with a bilateral cleft lip and palate and a convex profile, transposed teeth and congenitally missing teeth was treated by orthodontic treatment. 3 year posttreatment records showed excellent results with good occlusion, facial balance and harmony, and long-term stability.

  11. Preoperative factors as a predictor for early postoperative outcomes after repair of congenital transposition of the great arteries.

    PubMed

    Kim, Jung-Won; Gwak, Mijeung; Shin, Won-Jung; Kim, Hyun-Jung; Yu, Jeong Jin; Park, Pyung-Hwan

    2015-03-01

    Transposition of the great arteries (TGA) requires early surgical repair during the neonatal period. Several preoperative factors have been identified for the postoperative poor outcome after arterial switch operation (ASO). However, the data remain uncertain an association. Therefore, we investigated the preoperative factors which affect the early postoperative outcomes. Between March 2005 and May 2012, a retrospective study was performed which included 126 infants with an ASO for TGA. Preoperative data included the vasoactive inotropic score (VIS) and baseline hemodynamics. Early postoperative outcomes included the duration of mechanical ventilation, the length of stay in the intensive care unit and hospital, and early mortality. Multivariate linear regression and receiver operating characteristics analysis were performed. The duration of mechanical ventilation was significantly correlated with the preoperative mechanical ventilator support and VIS, and CPB time. On multivariate linear regression analysis, a higher preoperative VIS, preoperative B-type natriuretic peptide (BNP) level, and the CPB time were identified as independent risk factors for delayed mechanical ventilation. Preoperative VIS (OR 1.154, 95 % CI 1.024-1.300) and the CPB time (OR 1.034, 95 % CI 1.009-1.060) were independent parameters predicting early mortality. A preoperative VIS of 12.5 had the best combined sensitivity (83.3 %) and specificity (85.3 %) and an AUC of 0.852 (95 % CI 0.642-1.061) predicted early mortality. Our results suggest that preoperative VIS and BNP can predict the need for prolonged postoperative mechanical ventilation. Moreover, preoperative VIS may be used as a simple and feasible indicator for predicting early mortality.

  12. Clinical and pathologic comparison of simple left-to-right shunt congenital heart disease and transposition of the great arteries with ventricular septal defect.

    PubMed

    Huang, Jing-bin; Liang, Jian; Du, Ming

    2012-04-01

    This study aimed to compare clinical and pathologic data for selected patients with congenital heart disease (CHD) and severe pulmonary hypertension (PH) treated with a diagnostic-treatment-and-repair strategy and to compare results for patients with pulmonary vascular disease (PVD) with simple left-to-right shunt CHD with patients with transposition of the great arteries (TGA) and ventricular septal defect (VSD). Group I comprised 38 patients with simple left-to-right shunt CHD and severe PH; group II included 11 older patients with TGA with VSD and severe PH; and group III comprised 6 autopsy cases of individuals with a normal circulation. The nature of the pulmonary arteries was determined by the Heath-Edwards classification system. All specimens were quantitatively analyzed. Group I showed 31 patients with a change to grade I, 3 patients were grade II, 3 patients were grade III, and only 1 patient was grade IV. Group II showed 7 patients with a change to grade I, 2 patients were grade II, 1 patient was grade III, and only 1 patient was grade IV. The media wall thickness percentage (%MT), the media wall area percentage (%MS), and arteriole density were significantly higher in groups I and II than in group III. %MS was significantly higher in group II than in group I; no significant differences in %MT and arteriole density could be found between groups I and II. The PVD in these selected patients with CHD and severe PH who were cared for with a diagnostic-treatment-and-repair strategy is generally reversible, and the changes in PVD in the patients with TGA and VSD were similar to those in the patients with simple left-to-right shunt CHD.

  13. Correcting Congenital Talipes Equinovarus in Children Using Three Different Corrective Methods

    PubMed Central

    Chen, Wei; Pu, Fang; Yang, Yang; Yao, Jie; Wang, Lizhen; Liu, Hong; Fan, Yubo

    2015-01-01

    Abstract Equinus, varus, cavus, and adduction are typical signs of congenital talipes equinovarus (CTEV). Forefoot adduction remains a difficulty from using previous corrective methods. This study aims to develop a corrective method to reduce the severity of forefoot adduction of CTEV children with moderate deformities during their walking age. The devised method was compared with 2 other common corrective methods to evaluate its effectiveness. A Dennis Brown (DB) splint, DB splint with orthopedic shoes (OS), and forefoot abduct shoes (FAS) with OS were, respectively, applied to 15, 20, and 18 CTEV children with moderate deformities who were scored at their first visit according to the Diméglio classification. The mean follow-up was 44 months and the orthoses were changed as the children grew. A 3D scanner and a high-resolution pedobarograph were used to record morphological characteristics and plantar pressure distribution. One-way MAVONA analysis was used to compare the bimalleolar angle, bean–shape ratio, and pressure ratios in each study group. There were significant differences in the FAS+OS group compared to the DB and DB+OS groups (P < 0.05) for most measurements. The most salient differences were as follows: the FAS+OS group had a significantly greater bimalleolar angle (P < 0.05) and lower bean–shape ratio (P < 0.01) than the other groups; the DB+OS and FAS+OS groups had higher heel/forefoot and heel/LMF ratios (P < 0.01 and P < 0.001) than the DB group. FAS are critical for correcting improper forefoot adduction and OS are important for the correction of equinus and varus in moderately afflicted CTEV children. This study suggests that the use of FAS+OS may improve treatment outcomes for moderate CTEV children who do not show signs of serious torsional deformity. PMID:26181538

  14. Myocardial hypoperfusion detected by cardiac computed tomography in an adult patient with heart failure after classic repair for corrected transposition of the great arteries.

    PubMed

    Okayama, Satoshi; Seno, Ayako; Soeda, Tsunenari; Takami, Yasuhiro; Horii, Manabu; Uemura, Shiro; Saito, Yoshihiko

    2011-08-01

    A 69-year-old male with a history of classic repair for corrected transposition of the great arteries (TGA) arrived at our hospital with dyspnoea upon exertion. Echocardiography revealed severe dilation and diffuse hypokinesis of the systemic ventricle without obvious valvular dysfunction. Cardiac computed tomography (CT) revealed no significant stenosis. However, the morphological right coronary artery (CA) on the left side was unequally distributed to the large systemic ventricle and was mostly obscured, especially on the anterior wall. A low attenuation area in the anterior wall of the systemic ventricle and prominent trabeculations suggested ischaemia or infarction. We considered that chronic myocardial hypoperfusion due to an inadequate coronary arterial supply was one cause of the exacerbated heart failure long after the classic repair. Cardiac CT is useful for evaluating the distribution of the CA and to predict blood supply to the myocardium in corrected TGA.

  15. Transposition technique for correction of a malpositioned nipple-areola complex after reconstruction following a nipple-sparing mastectomy: a case report.

    PubMed

    Taneda, Hiroko; Sakai, Shigemi

    2011-12-01

    We developed a novel transposition technique for the correction of an asymmetric nipple-areola complex (NAC) due to breast mound reconstruction after a nipple-sparing mastectomy. The technique was composed of a rotation flap and an advancement flap. In this study, we describe a case of a 35-year-old woman with a malpositioned NAC located at the upper lateral position with a vertical scar in the lateral area of the breast treated by this technique, with a follow-up period of 12 years. In this case, established techniques were difficult to apply as there were thin underlying subcutaneous tissue and scars near the NAC. This technique may be useful in such a case and is an additional option in the correction of a malpositioned NAC from the upper lateral position to the ideal position on a breast mound.

  16. [The creation of a "new" aorta and the characteristics of coronary artery transplantation in the anatomical correction of transposition of the great vessels of the heart].

    PubMed

    Emets, I N; Segal, E V; Mazur, A P; Rudenko, N N

    2000-01-01

    Opinion varies among surgeons regarding the preferable method of surgical correction in patients with transposition of the great vessels (TGV) presenting with abnormal origins of the coronary artery (CA) and inadequacies in the diameters of the great vessels. In the work presented, the experience is analyzed gained with the performing of TGV radical correction operations of the arterial switch type in patients presenting with anomalous CA origins and abnormalities in diameters of the great vessels (n = 5). The submitted option permits simplifying CA transfer avoiding the coronary blood flow-related fatal intraoperative complications. Our modification of creation of a "new" aorta combined with particular features of implantation of the coronary arteries enabled us to secure good results in the presence of malformed, TGV, anatomy, which fact allowed the arterial switch operations to be extended to a greater number of cases in disadvantageous anatomical variants of TGV.

  17. Augmented superior rectus transposition surgery for vertical strabismus in moebius syndrome.

    PubMed

    Mehta, Raman; Suma, Ganesh; Gupta, Reena

    2016-07-01

    Moebius syndrome is a rare disease characterized by unilateral or bilateral congenital nonprogressive facial nerve palsy along with limitation of ocular abductions. Vertical Rectus Transpositions with posterior fixation suture is known to correct abduction deficiencies in case of Moebius syndrome. Traditionally both superior and inferior rectus transposition are done to prevent any post operative vertical imbalance. The purpose of reporting this case is to evaluate superior rectus transposition augmented with posterior fixation suture along with bilateral recession of medial rectus as a useful and safe alternative for treating large esotropia and abduction limitation with a significant vertical deviation in patients of Moebius syndrome. We report a rare case of a seven year old male child with large esotropia and with limited ocular abductions along with a significant vertical deviation which is not common in classic Moebius syndrome. We performed a superior rectus transposition in the eye with vertical deviation along with bimedial recession and our post operative results indicated a significant correction in the horizontal as well as vertical deviation along with an improvement in head posture. We advocate a superior rectus transposition surgery in cases of moebius syndrom whenever there is a significant vertical deviation. © NEPjOPH.

  18. CT imaging in congenital heart disease: an approach to imaging and interpreting complex lesions after surgical intervention for tetralogy of Fallot, transposition of the great arteries, and single ventricle heart disease.

    PubMed

    Han, B Kelly; Lesser, John R

    2013-01-01

    Echocardiography and cardiac magnetic resonance imaging are the most commonly performed diagnostic studies in patients with congenital heart disease. A small percentage of patients with congenital heart disease will be referred to cardiac CT subsequent to echocardiography when magnetic resonance imaging is insufficient, contraindicated, or considered high risk. The most common complex lesions referred for CT at our institution are tetralogy of Fallot, transposition complexes, and single ventricle heart disease. This review discusses the most common surgical procedures performed in these patients and the technical considerations for optimal image acquisition on the basis of the prior procedure and the individual patient history. Cardiac CT can provide the functional and anatomic information required for decision making in complex congenital heart disease. Image interpretation is aided by knowledge of the common approaches to operative repair and the residual hemodynamic abnormalities. Acquisition and interpretation that is both individualized to the patient's underlying disease and the specific clinical question is likely to maintain diagnostic accuracy while decreasing the potential risk of cardiac CT.

  19. Transposition of the great arteries

    PubMed Central

    Martins, Paula; Castela, Eduardo

    2008-01-01

    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 required soon after birth

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

    PubMed

    Danezis, J; Soumplis, A; Papathanassiou, Z

    1978-01-01

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

  1. Major complications and risk factors associated with surgical correction of congenital medial patellar luxation in 124 dogs.

    PubMed

    Cashmore, R G; Havlicek, M; Perkins, N R; James, D R; Fearnside, S M; Marchevsky, A M; Black, A P

    2014-01-01

    Dogs treated for congenital medial patellar luxation were reviewed for the purpose of determining the incidence of postoperative major complications requiring surgical revision and the risk factors for their occurrence. Major complications occurred in 18.5% of the patellar luxation stabilization procedures with implant associated complications being the most frequent, patellar reluxation the second, and tibial tuberosity avulsion the third most common major complication. Other complications included patellar ligament rupture and trochlear wedge displacement. When recession trochleoplasty was performed in addition to tibial tuberosity transposition, a 5.1-fold reduction in the rate of patellar reluxation was observed. Release of the cranial belly of the sartorius muscle further reduced the incidence of patellar reluxation, while patella alta (pre- or postoperative) and patellar luxation grade were not found to influence the rate of reluxation. Tibial tuberosity avulsion was 11.1-times more likely when using a single Kirschner wire to stabilize a transposition, compared with two Kirschner wires. Independent to the number of Kirschner wires used, the more caudodistally the Kirschner wires were directed, the higher the risk for tibial tuberosity avulsion. Tension bands were used in 24.4% of the transpositions with no tuberosity avulsion occurring in stifles stabilized with a tension band. Overall, grade 1 luxations had a significantly lower incidence of major complications than other grades, while body weight, age, sex, and bilateral patellar stabilization were not associated with risk of major complication development.

  2. Using 3D Physical Modeling to Plan Surgical Corrections of Complex Congenital Heart Defects.

    PubMed

    Vodiskar, Janez; Kütting, Maximilian; Steinseifer, Ulrich; Vazquez-Jimenez, Jaime Francisco; Sonntag, Simon J

    2017-01-01

    Background Understanding the anatomy and physiology of congenital heart defects is crucial for planning interventions in these patients. Congenital heart procedures often involve complex three-dimensional (3D) reconstructions. Excellent imaging techniques are required to depict all anatomical details. We have used and evaluated fast 3D prototyping technology for reconstruction and planning of corrections of complex congenital heart defects. Materials and Methods 3D physical models were constructed from contrast-enhanced computed tomography (CT) datasets of patients with complex congenital heart defect. Two different commercially available printing technologies were used and their clinical application compared. Results Physical models of three different patients were used for preoperative surgical planning. All models showed good correspondence to patient anatomy. Both printing technologies gave excellent results. Conclusion Physical models could be easily constructed with the use of CT datasets. The printing process could be done efficiently, quite rapidly, and cost effectively. Surgical corrections could be planned based on these models. Georg Thieme Verlag KG Stuttgart · New York.

  3. Interventions in leaks and obstructions of the interatrial baffle late after Mustard and Senning correction for transposition of the great arteries.

    PubMed

    Daehnert, Ingo; Hennig, Bert; Wiener, Michael; Rotzsch, Claudius

    2005-11-01

    The objective of this study was to describe the institutional experience with interventional treatment of atrial sequelae late after atrial correction for transposition of the great arteries (TGA). A retrospective observational study identified 13 long-term survivors of atrial correction for TGA (median age, 20.5 years; range, 13.8-33.0) with atrial inflow obstruction and/or interatrial defects. Balloon-expandable stents were used for relief of atrial inflow obstructions and interatrial defects closed with devices. Feasibility, periprocedural complications, residual or new obstructions or leaks at follow-up were investigated. Fourteen successful procedures were performed in 12 patients; one procedure failed. Five stents were placed for obstruction of the superior caval vein, three for obstruction of the inferior caval vein, and one for obstruction of the pulmonary venous return. Five septal occluders were implanted. Localization of the interatrial defects required atypical implantation techniques and resulted in atypical device positions. No complications occurred with stent or device implantation. There were no residual shunts through or around the septal occluders. None of the patients had new implant-related obstruction or leakage during a median follow-up of 21 months (range, 6-45). Stent implantation for obstruction of the pulmonary or systemic venous return in patients after atrial redirection for TGA is safe and effective. Follow-up suggests excellent maintenance of patency. Interatrial defects can be closed with septal occluders despite atypical defect positions in these patients. Combined use of both devices in adjacent positions is feasible. These interventions help to avoid high-risk surgery. Copyright 2005 Wiley-Liss, Inc.

  4. Congenital bowing of the tibia due to infantile lipofibromatosis corrected with a Taylor Spatial Frame.

    PubMed

    Joseph, George; Zenios, Michalis

    2014-12-01

    Congenital lipofibromatosis is a rare slow growing benign fibrofatty neoplasm presenting in childhood. The case of a boy presenting soon after birth with diffuse lower extremity enlargement associated with a significant tibial deformity is presented. Magnetic resonance imaging and soft tissue biopsy confirmed the diagnosis of lipofibromatosis. The child started having problems with his gait after the age of two. The tibial bowing was corrected gradually using a Taylor Spatial Frame resulting in a good clinical outcome.

  5. Superficial tunica albuginea excision, using geometric principles, for the correction of congenital penile curvature.

    PubMed

    Kuehhas, Franklin Emmanuel; Egydio, Paulo Henrique

    2012-12-01

    Study Type--Therapy (practise pattern survey) Level of Evidence 3b. What's known on the subject? and What does the study add? Congenital penile deviation has become a relatively frequent finding due to a greater awareness of the problem among patients and physicians. Since the first surgical correction for congenital penile curvature was performed, many modifications have been implemented to overcome the disadvantages of the standard procedure and to improve functional results. Among the possible side effects of the original technique are postoperative erectile dysfunction, the development of painful nodules at the suture sites ('dog ears'), alteration of cutaneous sensibility and significant penile shortening. This study presents a novel approach for the correction of congenital penile curvature. We modified the conventional Nesbit technique by applying superficial tunica albuginea excisions, according to the geometric principles of the Egydio technique. • To report our experience with a new technique for the correction of congenital penile curvature based on geometric principles. • Between January 2006 and March 2011, 211 men with congenital penile curvature underwent our modified Nesbit technique. • The technique consists of an objectivation of the degree of curvature and distribution of the bending force by multiple, small, superficial, elliptical excisions of the tunica albuginea. • The overall success rate was 99.1%. • A residual curvature of less than 20° was reported in 5% (n = 11) of the cases; none of these patients opted for further surgical correction. • Residual curvature of up to 30° was observed in 0.9% (n = 2); these patients underwent a reoperation. • Acquiring or regaining the ability to perform sexual intercourse brought major relief and high rates of satisfaction and self-esteem. • No recurrence of a ventral curvature occurred. • Our modified Nesbit technique, consisting of superficial tunica albuginea excision according to

  6. Surgical Correction of Congenital Heart Disease in the Adult: Experience with 139 Patients

    PubMed Central

    Leidenfrost, Ronald D.; Weldon, Clarence S.

    1978-01-01

    Patients over 18 years of age who have undergone a surgical correction of a congenital cardiac malformation during the period 1968 through 1977 have been reviewed. Those patients with calcific aortic stenosis which was thought, but not proved, to have arisen in a congenitally malformed aortic valve, were excluded from the review. Patients with cystic medial necrosis of the aorta were similarly excluded. There were 139 patients in the series (age range from 18 years to 67 years). The most common defects were those involving the intra-atrial septum and the related great veins, 50%. Abnormalities involving the great arteries including patent ductus arteriosus and coarctation of the aorta accounted for 19%. Common defects of conal development including ventricular septal defects and Tetralogy of Fallot malformations accounted for 15%. Valvular abnormalities including pulmonic stenosis, aortic valve abnormalities and Ebstein's malformation of tricuspid valve accounted for 11.5%. Complex congenital malformations were relatively uncommon, 4%. There were two patients with a combination of acquired and congenital heart disease. There were two operative deaths in the series, both occurring in patients with complex forms of congenital heart disease (multiple ventricular septal defects, double outlet right ventricle). There were two additional postoperative hospital deaths, one occurring following repair of an atrial septal defect from massive pulmonary embolus, and another occurring six weeks following a Fontan procedure performed for tricuspid atresia. Thus, the hospital mortality for the series was 2.9%. This reviewed series reveals the incidence of operable congenital heart defects appearing in an adult cardiac surgical practice and demonstrates that surgical repair can be accomplished with a satisfactory low mortality rate. PMID:697429

  7. Stem cell therapy and tissue engineering for correction of congenital heart disease

    PubMed Central

    Avolio, Elisa; Caputo, Massimo; Madeddu, Paolo

    2015-01-01

    This review article reports on the new field of stem cell therapy and tissue engineering and its potential on the management of congenital heart disease. To date, stem cell therapy has mainly focused on treatment of ischemic heart disease and heart failure, with initial indication of safety and mild-to-moderate efficacy. Preclinical studies and initial clinical trials suggest that the approach could be uniquely suited for the correction of congenital defects of the heart. The basic concept is to create living material made by cellularized grafts that, once implanted into the heart, grows and remodels in parallel with the recipient organ. This would make a substantial improvement in current clinical management, which often requires repeated surgical corrections for failure of implanted grafts. Different types of stem cells have been considered and the identification of specific cardiac stem cells within the heterogeneous population of mesenchymal and stromal cells offers opportunities for de novo cardiomyogenesis. In addition, endothelial cells and vascular progenitors, including cells with pericyte characteristics, may be necessary to generate efficiently perfused grafts. The implementation of current surgical grafts by stem cell engineering could address the unmet clinical needs of patients with congenital heart defects. PMID:26176009

  8. [Cardiac magnetic resonance imaging of congenital heart defects in adults].

    PubMed

    Bastarrika Alemañ, G; Gavira Gómez, J J; Zudaire Díaz-Tejeiro, B; Castaño Rodríguez, S; Romero Ibarra, C; Sáenz de Buruaga, J D

    2007-01-01

    The study of congenital cardiopathies (CC) is one of the most clearly established indications of cardiac magnetic resonance imaging (CMRI). Different sequences, including anatomic, functional, flow (phase contrast), and 3D angiographic sequences, enable the diagnosis, treatment planning, and follow-up of these conditions. CMRI allows the anatomy, function, and alterations of flow in these cardiopathies to be evaluated in a single examination. Three-dimensional MR angiography enables the study of the great vessels and the anomalies associated to congenital heart defects in adults. This article describes an examination protocol and provides examples of MR images of the most common CC in adults: atrial septal defect, interventricular communication, atrioventricular canal, tetralogy of Fallot, transposition of the great arteries, congenitally corrected transposition of the great arteries, bicuspid aortic valve, subaortic stenosis, aortic coarctation, and Ebstein's anomaly.

  9. Staged corrective surgery for complex congenital scoliosis and split cord malformation.

    PubMed

    Qureshi, Muhammad Asad; Asad, Ambreen; Pasha, Ibrahim Farooq; Malik, Arslan Sharif; Arlet, Vincent

    2009-09-01

    Congenital scoliosis associated with split cord malformation raises the issue on how to best manage these patients to avoid neurologic injury while achieving satisfactory correction. We present the case of a 12-year-old girl who first presented when she was 11-year old with such combination but without much physical handicap or neurological deficit. The corrective surgery offered at that time was refused by the family. She again presented after 1 year with documented severe aggravation of the curve resulting in unstable walking and psychological upset. Her imaging studies showed multiple malformations in lower cervical and thoracic spine and a split cord malformation type 2 (fibrous septum with diplomyelia) at the apex of the deformity. A one-stage correction was deemed neurologically too risky. We therefore performed during a first stage a thoracotomy with anterior release. This was followed by skeletal traction with skull tongs and bilateral femoral pins. After gradual increase in traction weights a reasonable correction was achieved without any neurological deficit, over the next 10 days. A second-stage operation was done on the 11th day and a posterior instrumented fusion was performed. Post-operative recovery was uneventful and there were no complications. She was discharged with a Boston Brace to be worn for 3 months. At 2-year follow-up the patient outcome is excellent with excellent balance and correction of the deformity. In this grand round case, we discuss all the different option of treatment of congenital scoliosis associated with split cord malformation. In a medical environment where spinal cord monitoring is lacking, we recommend an initial release followed by skull and bifemoral traction over several days to monitor the neurologic status of the patient. Once optimal correction is achieved with the traction, a posterior instrumentation can be safely done.

  10. Executive Function and Theory of Mind in School-Aged Children after Neonatal Corrective Cardiac Surgery for Transposition of the Great Arteries

    ERIC Educational Resources Information Center

    Calderon, Johanna; Bonnet, Damien; Courtin, Cyril; Concordet, Susan; Plumet, Marie-Helene; Angeard, Nathalie

    2010-01-01

    Aim: Cardiac malformations resulting in cyanosis, such as transposition of the great arteries (TGA), have been associated with neurodevelopmental dysfunction. The purpose of this study was to assess, for the first time, theory of mind (ToM), which is a key component of social cognition and executive functions in school-aged children with TGA.…

  11. Executive Function and Theory of Mind in School-Aged Children after Neonatal Corrective Cardiac Surgery for Transposition of the Great Arteries

    ERIC Educational Resources Information Center

    Calderon, Johanna; Bonnet, Damien; Courtin, Cyril; Concordet, Susan; Plumet, Marie-Helene; Angeard, Nathalie

    2010-01-01

    Aim: Cardiac malformations resulting in cyanosis, such as transposition of the great arteries (TGA), have been associated with neurodevelopmental dysfunction. The purpose of this study was to assess, for the first time, theory of mind (ToM), which is a key component of social cognition and executive functions in school-aged children with TGA.…

  12. Ventricular inversion without transposition of the great vessels in situs inversus.

    PubMed

    Espino-Vela, J; De la Cruz, M V; Muñoz-Castellanos, L; Plaza, L; Attie, F

    1970-05-01

    A classification of one type of congenital malformation previously reported (de la Cruz et al., 1967) is based on the integration of an embryological theory for ventricular inversions with the embryological concepts of trunco-conal malformations (de la Cruz and da Rocha, 1956). In that classification we consider that in each situs, either solitus or inversus ventricular inversions may be associated with: (a) normally arranged great vessels (not transposed); (b) transposition of the great vessels; (c) persistent truncus arteriosus. The patients had ventricular inversion without transposition of the great vessels in situs inversus.THE CORRECT ANATOMICAL DIAGNOSIS WAS NOT FORESEEN BUT THE PHYSIOPATHOLOGICAL DIAGNOSIS WAS CORRECT: pulmonary ischaemia associated with septal defects. In one case these facts were substantiated by catheterization and by angiocardiographic findings which led us to advise surgery. Haemodynamically isolated inversion of the ventricles is as severe a malformation as complete (not corrected) transposition of the great vessels. However, an operation of the anastomotic type between a systemic vessel and the narrow pulmonary artery seemed justified in these cases, as a means to convey more blood to the lungs and improve the saturation of the arterial blood. It was unsuccessfully carried out in one patient.The anatomical, radiological, and electrocardiographic features which might aid in the diagnosis are analysed.

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

    PubMed

    Hou, Dianju; Li, Gehong; Fang, Lin; Li, Bing

    2013-01-01

    We aimed to report our successful use of frontalis muscle flap suspension for the correction of congenital blepharoptosis in early age children. 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. 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. Frontalis muscle flap suspension under general anesthesia for the correction of congenital blepharoptosis in early age children can achieve good surgical results.

  14. Frontalis Muscle Flap Suspension for the Correction of Congenital Blepharoptosis in Early Age Children

    PubMed Central

    Hou, Dianju; Li, Gehong; Fang, Lin; Li, Bing

    2013-01-01

    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. PMID:23308158

  15. [Analgosedation with fentanyl/midazolam after correction of congenital heart defects].

    PubMed

    Michel-Behnke, I; Rothes, A; Hund, F; Huth, R; Wippermann, C F; Schmidt, F X; Oelert, H; Schranz, D

    1995-01-01

    There is no standard therapy in the management of postoperative pain control following corrective cardiac surgery of congenital heart disease. Assessment in the preverbal age is difficult. In a randomized study we compared a combined treatment of fentanyl and midazolam, given as continuous infusion versus single dose application. A pain assessment score was used to measure the effectiveness of analgosedation in addition to recording nurseries observations. Fentanyl and midazolam are an appropriate combination for postoperative pain treatment. Continuous application is considered to be more effective concerning basic anxiety, cumulative dosage and to avoid volume overload in infants and young children, following cardiac surgery; overdosage was not observed.

  16. Endocardial fibroelastosis in L-transposition of the great arteries with Ebstein's anomaly: revisited.

    PubMed

    Dahdah, N S; van Doesburg, N H; Russo, P

    1998-01-01

    Ebstein's anomaly is a congenital deformity of the tricuspid valve consisting mainly of leaflet malinsertion. Clinical presentation varies from asymptomatic patients to those with congestive heart failure secondary to significant valvular regurgitation and low right ventricular output. We report here the case of an infant with a diagnosis of corrected transposition of the great arteries and Ebstein's deformity of the left-sided tricuspid valve who developed pulmonary hypertension and endocardial fibroelastosis, two unusual associations with this lesion. We also discuss the pathophysiology of this association and related literature.

  17. A retrospective study on 69 cases of maxillary tooth transposition.

    PubMed

    Cho, Shiu-yin; Chu, Vanessa; Ki, Yung

    2012-01-01

    The published literature on tooth transposition includes only a few studies that have involved more than 50 subjects. The aim of the present study was to investigate the prevalence of true maxillary tooth transposition and possible associated dental anomalies in a larger sample of children. The dental records and radiographs of children who had been diagnosed as having true maxillary tooth transposition at a School Dental Clinic in Hong Kong were studied retrospectively. Data were analyzed for sex and side distribution, as well as for associated dental anomalies. Trends of differences were analyzed statistically using the Fisher exact or chi-squared test. A total of 69 cases of true maxillary tooth transposition were identified and studied; its prevalence in Hong Kong Chinese children was 0.81%. More females than males were affected, and the difference between the sexes was statistically significant (P < 0.05). The prevalence of congenitally missing teeth, microdontia of the maxillary lateral incisors or dental impaction was higher in patients with maxillary tooth transposition than in the general population (P < 0.05, P < 0.0005, and P < 0.0001, respectively). The fact that patients with maxillary tooth transposition were more likely to have congenital absence or microdontia of the maxillary lateral incisors lent further support to the contention that a developmental field defect plays a role in the pathogenesis of maxillary tooth transposition.

  18. Embryonic rationale for the primary correction of classical congenital clefts of the lip and palate.

    PubMed Central

    Millard, D. R.

    1994-01-01

    Primary correction of congenital clefts of the lip and palate should be designed to carry the interrupted embryonic process to normal completion. This is best accomplished by maxillary alignment with presurgical orthodontics, stabilisation of the maxillary alignment, obliteration of the alveolar cleft and construction of the nasal floor with periosteoplasty. This allows early construction of the lip by rotation and advancement and correction of the nose with columella lengthening, alar cartilage positioning and alar base cinching. This can be accomplished before school age. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 Figure 10 Figure 11 Figure 12 Figure 13 Figure 14 Figure 15 Figure 16 Figure 17 Figure 18 Figure 19 Figure 20 PMID:8017808

  19. Early versus delayed surgical correction of malrotation in children with critical congenital heart disease.

    PubMed

    Sulkowski, Jason P; Cooper, Jennifer N; Duggan, Eileen M; Balci, Ozlem; Anandalwar, Seema; Blakely, Martin L; Heiss, Kurt; Rangel, Shawn J; Minneci, Peter C; Deans, Katherine J

    2015-01-01

    The purpose of this study was to compare outcomes between early and delayed surgical correction of malrotation in children with critical congenital heart disease (CHD). Patients with CHD who underwent cardiac surgery by 1 year of age and had malrotation diagnosed during their initial admission at 34 hospitals contributing to the Pediatric Health Information System in 2004-2009 were included. Ladd's procedures performed during the first admission were considered early correction, and those at a subsequent admission were considered delayed. Interhospital variability in the proportion of patients undergoing delayed correction was assessed, and outcomes were compared between the groups. Of the 324 patients identified, 85.2% underwent early correction. Significant variability existed in the proportion of patients undergoing delayed correction across hospitals (p<0.0001). Baseline characteristics, including severity of CHD, were similar between the groups. In the delayed group, 27% of patients underwent a Ladd's procedure during an urgent or emergent admission, but none had volvulus or underwent intestinal resection. Rates of mortality and readmission within 1 year of malrotation diagnosis were similar in both groups. Chart validation confirmed 100% accuracy of diagnosis and treatment group assignment. In patients with critical CHD, delayed operative intervention for malrotation without volvulus may be a reasonable alternative. Copyright © 2015 Elsevier Inc. All rights reserved.

  20. Shaeer's Corporal Rotation III: Shortening-Free Correction of Congenital Penile Curvature-The Noncorporotomy Technique.

    PubMed

    Shaeer, Osama; Shaeer, Kamal

    2016-01-01

    Shortening-free correction of congenital ventral penile curvature by rotation of the corpora cavernosa was first introduced in 2006 (Shaeer's corporal rotation I). The basic principle was shifting the concavity of both corpora cavernosa from the ventral aspect of the penis to the lateral aspects, in opposition. Rotation was achieved by approximating short parallel incisions on the dorsum of both corpora cavernosa. In 2008, we reported modification of the technique (Shaeer's corporal rotation II), in which the incisions spanned the whole length of the corpora cavernosa. The current modification, Shaeer's corporal rotation III (the noncorporotomy technique) simplifies corporal rotation further and addresses shortcomings. This is a retrospective study of 127 cases of congenital ventral penile curvature 25-90° operated at Kamal Shaeer Hospital, Cairo, Egypt, from 2009 to 2015. The neurovascular bundle was mobilized, and the corpora were rotated by approximating premarked respective points on either side of the deep dorsal vein using polyester sutures without incising the tunica albuginea. Intraoperative postrotation angle and erect length and girth. On-table measurements showed a mean prerotation erection angle of 66.5° ± 17.9° (range: 25-90°; median 65°). Following rotation, the angle was 0.47° ± 1.8° (p<0.001) and length was 0.06 ± 0.25 cm longer (p=0.007), whereas girth was 0.77 ± 0.9 cm narrower (p<0.001). Complications included 11 cases (8.7%) of ventral wound gaping and 3 (2.4%) with mild recurrence not requiring correction. The International Index of Erectile Function was 24.99 ± 0.9, with an increase of 13.35 ± 3.4 over the preoperative state (p<0.001). Shaeer's corporal rotation III enables correction of any degree of ventral congenital penile curvature, with neither shortening nor erectile dysfunction. Shaeer's corporal rotation is a surgical technique for correction of severe degrees of innate downward curvature of the penis, without shortening

  1. Nonsurgical correction of congenital ear abnormalities in the newborn: Case series

    PubMed Central

    Smith, WG; Toye, JW; Reid, A; Smith, RW

    2005-01-01

    OBJECTIVE To determine whether a simple, nonsurgical treatment for congenital ear abnormalities (lop-ear, Stahl’s ear, protruding ear, cryptotia) improved the appearance of ear abnormalities in newborns at six weeks of age. METHODS This is a descriptive case series. All newborns with identified abnormalities were referred by their family physician to one paediatrician (WGS) in a small level 2 perinatal centre. The ears were waxed and taped in a standard manner within 10 days of birth. Pictures were taken before taping and at the end of taping (one month). All patients and pictures were assessed by one plastic surgeon (JWT) at six weeks of age and scored using a standard scoring system. A telephone survey of the nontreatment group was conducted. RESULTS The total number of ears assessed was 90. Of this total, 69 ears were taped and fully evaluated in the study (77%). The refusal rate was 23%. In the treatment group, 59% had lop-ear, 19% had Stahl’s ear, 17% had protruding ear and 3% had cryptotia. Overall correction (excellent/improved) for the treatment group was 90% (100% for lop-ear, 100% for Stahl’s ear, 67% for protruding ear and 0% for cryptotia). In the nontreatment (refusal) group, 67% of the ears failed to correct spontaneously. No complications were recognized by the authors or parents by six weeks. The percentage of newborns in one year in the perinatal centre with recognized ear abnormalities was 6% (90 of 1600). CONCLUSIONS A simple, nonsurgical treatment in a Caucasian population appeared to be very effective in correcting congenital ear abnormalities with no complications and high patient/parent satisfaction. PMID:19675840

  2. The Effect of Concomitant Rib Deformity in Congenital Scoliosis on Spinal Curve Correction After Segmental Pedicle Screw Instrumentation.

    PubMed

    Ameri, Ebrahim; Fouladi, Daniel F; Safari, Mir Bahram; Tari, Hossein Vahid; Ghandhari, Hassan

    2017-05-01

    A single-center, prospective study. To investigate the effect of rib anomaly on surgical curve correction outcome in congenital scoliosis. The presence of rib anomalies may complicate surgical correction of congenital scoliosis. The outcome of surgical correction, however, has not been documented in scoliotic patients with and without rib deformity. Percent Cobb angle decrease (CAD) after operation was calculated in 94 patients with congenital scoliosis. Posterior segmental pedicle screw instrumentation (posterior approach) with or without previous anterior spinal release and fusion (anterior approach) was the method of correction. The impact of vertebral anomaly and rib deformity on CAD was examined. Although the type of vertebral anomaly had no significant effect on the mean CAD, it was significantly lower in 56 patients with rib deformity compared with that in the remaining patients without rib deformity (35.14%±15.83% vs. 51.54%±17.82%, P<0.001); particularly in those with complex, unilateral rib abnormalities, and in those with same-level vertebral and rib deformities. Patients' sex and age at the time of operation, rib number abnormality, and the type of operation (ie, posterior-only approach vs. anterior and posterior approach) did not contribute significantly to Cobb angle change after operation. Concomitant rib deformities, particularly of complex and unilateral types, significantly compromise operative curve correction outcome in congenital scoliosis.

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

    PubMed

    Haddad, Maria Aparecida Onuki; Sampaio, Marcos Wilson; Oltrogge, Ernst Werner; Kara-José, Newton; Betinjane, Alberto Jorge

    2009-01-01

    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. To analyze data concerning visual response, the use of optical correction and prescribed low vision aids in a population of children with congenital glaucoma. The authors analyzed data from 100 children with congenital glaucoma to assess best corrected visual acuity, prescribed optical correction and low vision aids. 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 x 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. 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.

  4. Visual Impairment Secondary to Congenital Glaucoma in Children: Visual Responses, Optical Correction and Use of Low Vision Aids

    PubMed Central

    Haddad, Maria Aparecida Onuki; Sampaio, Marcos Wilson; Oltrogge, Ernst Werner; Kara-José, Newton; Betinjane, Alberto Jorge

    2009-01-01

    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. PMID:19690654

  5. Array Transposition in SSD

    NASA Technical Reports Server (NTRS)

    Bailey, David H.; Kutler, Paul (Technical Monitor)

    1998-01-01

    One obstacle to running very large two- and three-dimensional codes on the Cray X-MP and Y-MP systems is to efficiently perform array transpositions using SSD storage. This article discusses how such transpositions can be performed by means of algorithms that feature exclusively unit stride, long vector transfers between main memory and SSD, and which only require a single pass through the data (provided sufficient main memory buffers are available).

  6. Correction of congenital penoscrotal webbing in children: A retrospective review of three surgical techniques.

    PubMed

    Bonitz, R P; Hanna, M K

    2016-06-01

    Congenital penoscrotal webbing (PSW) is a condition that leads to penile shortening and is a common cause of delayed circumcision. While various techniques for PSW repair have been described, no comparative studies are currently available. The goal of this study was to validate and critique three commonly utilized techniques for PSW repair. A retrospective chart review was performed on all patients who underwent repair for PSW, with or without concomitant surgical procedure, by a single surgeon (MKH) over a 7-year period. Inclusion criteria were: aged <5 years, diagnosis of PSW, documented surgical approach undertaken to correct the PSW, and follow-up for a minimum of 6 months. A total of 196 patients aged 6 months-3.4 years (average 7.8 months) were included, and underwent three different types of procedure: Heineke-Mikulicz (HM) scrotoplasty, VY scrotoplasty or Z scrotoplasty. Out of 196 patients, 10 (6.7%) had complications, with four (2.7%) requiring surgical revision or correction. Two patients had excision of 'dog-ear' skin tags, one required excision of a suture tract, and the fourth required revision of skin contraction after HM repair with Z scrotoplasty. Congenital penoscrotal webbing is a common condition that often requires pediatric urology consultation. Although it is felt that the severity of the defect may not impact on the operative technique for repair of PSW, data comparing these techniques is lacking. This single-surgeon series highlighted that amongst the patients who underwent one of the three described techniques (HM, VY or Z scrotoplasty), there were no significant postoperative differences in complications or parent satisfaction. Although the ease of the HM repair for minor webbing is acknowledged, Z scrotoplasty is the authors' preference for repair given its ability to address the most severe webbing. In this comparison of three surgical techniques for the correction of PSW, it was demonstrated that each choice is safe, with no option

  7. Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors.

    PubMed

    Bedel, Aurélie; Taillepierre, Miguel; Guyonnet-Duperat, Véronique; Lippert, Eric; Dubus, Pierre; Dabernat, Sandrine; Mautuit, Thibaud; Cardinaud, Bruno; Pain, Catherine; Rousseau, Benoît; Lalanne, Magalie; Ged, Cécile; Duchartre, Yann; Richard, Emmanuel; de Verneuil, Hubert; Moreau-Gaudry, François

    2012-07-13

    Congenital erythropoietic porphyria (CEP) is due to a deficiency in the enzymatic activity of uroporphyrinogen III synthase (UROS); such a deficiency leads to porphyrin accumulation and results in skin lesions and hemolytic anemia. CEP is a candidate for retrolentivirus-mediated gene therapy, but recent reports of insertional leukemogenesis underscore the need for safer methods. The discovery of induced pluripotent stem cells (iPSCs) has opened up new horizons in gene therapy because it might overcome the difficulty of obtaining sufficient amounts of autologous hematopoietic stem cells for transplantation and the risk of genotoxicity. In this study, we isolated keratinocytes from a CEP-affected individual and generated iPSCs with two excisable lentiviral vectors. Gene correction of CEP-derived iPSCs was obtained by lentiviral transduction of a therapeutic vector containing UROS cDNA under the control of an erythroid-specific promoter shielded by insulators. One iPSC clone, free of reprogramming genes, was obtained with a single proviral integration of the therapeutic vector in a genomic safe region. Metabolic correction of erythroblasts derived from iPSC clones was demonstrated by the disappearance of fluorocytes. This study reports the feasibility of porphyria gene therapy with the use of iPSCs.

  8. Metabolic Correction of Congenital Erythropoietic Porphyria with iPSCs Free of Reprogramming Factors

    PubMed Central

    Bedel, Aurélie; Taillepierre, Miguel; Guyonnet-Duperat, Véronique; Lippert, Eric; Dubus, Pierre; Dabernat, Sandrine; Mautuit, Thibaud; Cardinaud, Bruno; Pain, Catherine; Rousseau, Benoît; Lalanne, Magalie; Ged, Cécile; Duchartre, Yann; Richard, Emmanuel; de Verneuil, Hubert; Moreau-Gaudry, François

    2012-01-01

    Congenital erythropoietic porphyria (CEP) is due to a deficiency in the enzymatic activity of uroporphyrinogen III synthase (UROS); such a deficiency leads to porphyrin accumulation and results in skin lesions and hemolytic anemia. CEP is a candidate for retrolentivirus-mediated gene therapy, but recent reports of insertional leukemogenesis underscore the need for safer methods. The discovery of induced pluripotent stem cells (iPSCs) has opened up new horizons in gene therapy because it might overcome the difficulty of obtaining sufficient amounts of autologous hematopoietic stem cells for transplantation and the risk of genotoxicity. In this study, we isolated keratinocytes from a CEP-affected individual and generated iPSCs with two excisable lentiviral vectors. Gene correction of CEP-derived iPSCs was obtained by lentiviral transduction of a therapeutic vector containing UROS cDNA under the control of an erythroid-specific promoter shielded by insulators. One iPSC clone, free of reprogramming genes, was obtained with a single proviral integration of the therapeutic vector in a genomic safe region. Metabolic correction of erythroblasts derived from iPSC clones was demonstrated by the disappearance of fluorocytes. This study reports the feasibility of porphyria gene therapy with the use of iPSCs. PMID:22795135

  9. Four-dimensional visualization of thoracic blood flow by magnetic resonance imaging in a patient following correction of transposition of the great arteries (d-TGA) and uncorrected aortic coarctation.

    PubMed

    Ley-Zaporozhan, J; Unterhinninghofen, R; Rengier, F; Markl, M; Eichhorn, J; von Tengg-Kobligk, H; Ley, S

    2009-10-01

    Recent advances in flow-sensitive magnetic resonance imaging (MRI) and data analysis allow for comprehensive noninvasive three-dimensional (3D) visualization of complex blood flow. Electrocardiogram (ECG)-gated three-directional (3dir) flow measurements were employed to assess and visualize time-resolved 3D blood flow in the pulmonary arteries (PA) and thoracic aorta. We present findings in a juvenile patient with surgically corrected transposition of the great arteries (d-TGA) and aortic coarctation. For the first time, the complex flow patterns in the PA following d-TGA were visualized. Morphologically, a slight asymmetry of the PA was found, with considerable impact on vascular hemodynamics, resulting in diastolic retrograde flow in the larger vessel and diastolic filling of the smaller PA. Additionally, increased flow to the supraaortic vessels was found due to aortic coarctation.

  10. Iloprost for children with pulmonary hypertension after surgery to correct congenital heart disease.

    PubMed

    Xu, Zhuoming; Zhu, Limin; Liu, Xinrong; Gong, Xiaolei; Gattrell, William; Liu, Jinfen

    2015-06-01

    Congenital heart disease (CHD) can cause pulmonary hypertension (PH) in children, and surgery to correct CHD may be complicated by postoperative pulmonary hypertensive crises (PHC). Clinical data regarding the use of inhaled iloprost to treat children with PH are scarce. Our aim was to determine the efficacy and safety of iloprost in children with PH following surgery to correct CHD. This was a randomized, placebo-controlled study of 22 children (median age 7 months) undergoing surgery to achieve biventricular repair. The combined clinical endpoint was a decrease of more than 20% in the ratio of systolic pulmonary arterial pressure to systolic arterial pressure or pulmonary resistance to systemic resistance, with no PHC or death. Patients were randomized to receive low-dose iloprost (30 ng/kg/min), high-dose iloprost (50 ng/kg/min), or placebo, for 10 min every 2 hr in the first 48 hr after surgery. PHC were experienced by two patients who received placebo and one patient treated with high-dose iloprost. The combined clinical endpoint was reached by six patients administered low-dose iloprost (P = 0.005) and four administered high-dose iloprost (P = 0.077), compared with none in the placebo group. Patients treated with iloprost showed a significant reduction from baseline in mean pulmonary vascular resistance index (-2.2 Wood units, P < 0.05), whereas patients who received placebo showed no significant change. This study supports the use of iloprost to treat children with PH following surgery to correct CHD.

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

    PubMed

    Cristante, Alexandre Fogaça; Borges, Paulo Alvim; Barbosa, Angelo Roberto; Letaif, Olavo Biraghi; Marcon, Raphael Martus; Barros Filho, Tarcisio Eloy Pessoa de

    2014-12-01

    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. 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). 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). 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.

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

    PubMed

    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.

  13. Transposition Musical Chairs

    ERIC Educational Resources Information Center

    Yankosky, Bill

    2008-01-01

    This article discusses a classroom activity in which students in a small-sized (n = 4) Abstract Algebra class were able to discover some properties related to permutations and transpositions by physically moving from chair to chair according to suggested guidelines. During the lesson students were able to determine ways to write a permutation as a…

  14. Right ventricular failure in congenital heart disease.

    PubMed

    Cho, Young Kuk; Ma, Jae Sook

    2013-03-01

    Despite developments in surgical techniques and other interventions, right ventricular (RV) failure remains an important clinical problem in several congenital heart diseases (CHD). RV function is one of the most important predictors of mortality and morbidity in patients with CHD. RV failure is a progressive disorder that begins with myocardial injury or stress, neurohormonal activation, cytokine activation, altered gene expression, and ventricular remodeling. Pressure-overload RV failure caused by RV outflow tract obstruction after total correction of tetralogy of Fallot, pulmonary stenosis, atrial switch operation for transposition of the great arteries, congenitally corrected transposition of the great arteries, and systemic RV failure after the Fontan operation. Volume-overload RV failure may be caused by atrial septal defect, pulmonary regurgitation, or tricuspid regurgitation. Although the measurement of RV function is difficult because of many reasons, the right ventricle can be evaluated using both imaging and functional modalities. In clinical practice, echocardiography is the primary mode for the evaluation of RV structure and function. Cardiac magnetic resonance imaging is increasingly used for evaluating RV structure and function. A comprehensive evaluation of RV function may lead to early and optimal management of RV failure in patients with CHD.

  15. Sleeping Beauty Transposition.

    PubMed

    Ivics, Zoltán; Izsvák, Zsuzsanna

    2015-04-01

    Sleeping Beauty (SB) is a synthetic transposon that was constructed based on sequences of transpositionally inactive elements isolated from fish genomes. SB is a Tc1/mariner superfamily transposon following a cut-and-paste transpositional reaction, during which the element-encoded transposase interacts with its binding sites in the terminal inverted repeats of the transposon, promotes the assembly of a synaptic complex, catalyzes excision of the element out of its donor site, and integrates the excised transposon into a new location in target DNA. SB transposition is dependent on cellular host factors. Transcriptional control of transposase expression is regulated by the HMG2L1 transcription factor. Synaptic complex assembly is promoted by the HMGB1 protein and regulated by chromatin structure. SB transposition is highly dependent on the nonhomologous end joining (NHEJ) pathway of double-strand DNA break repair that generates a transposon footprint at the excision site. Through its association with the Miz-1 transcription factor, the SB transposase downregulates cyclin D1 expression that results in a slowdown of the cell-cycle in the G1 phase, where NHEJ is preferentially active. Transposon integration occurs at TA dinucleotides in the target DNA, which are duplicated at the flanks of the integrated transposon. SB shows a random genome-wide insertion profile in mammalian cells when launched from episomal vectors and "local hopping" when launched from chromosomal donor sites. Some of the excised transposons undergo a self-destructive autointegration reaction, which can partially explain why longer elements transpose less efficiently. SB became an important molecular tool for transgenesis, insertional mutagenesis, and gene therapy.

  16. Genetics Home Reference: critical congenital heart disease

    MedlinePlus

    ... right ventricle, D-transposition of the great arteries , Ebstein anomaly, hypoplastic left heart syndrome , interrupted aortic arch, ... Testing Registry: Congenital heart disease Genetic Testing Registry: Ebstein's anomaly Genetic Testing Registry: Hypoplastic left heart syndrome ...

  17. The STAGE technique (superficial tunica albuginea geometric-based excision) for the correction of biplanar congenital penile curvature.

    PubMed

    Kuehhas, Franklin Emmanuel; Egydio, Paulo Henrique

    2014-01-01

    Congenital penile curvature can present with both uniplanar and biplanar defects, the latter of which entails more technically demanding surgery. The study aims to demonstrate the efficacy and safety of our novel superficial tunica albuginea geometric-based excision (STAGE) technique based on multiple, small, superficial elliptical tunica albuginea excisions and geometrical principles for correcting biplanar congenital penile curvature. The study represents a retrospective analysis of 145 patients with disabling congenital biplanar ventrolateral (n = 131; 90.3%) or dorsolateral (n = 14; 9.7%) curvature of the penis, which underwent stepwise STAGEs between June 2006 and March 2012. Multiple 3-mm elliptical excisions of the superficial tunica albuginea were performed without compromising the inner layer of the tunica albuginea, thus resulting in a stepwise correction of the curvature and improved distribution of the bending force of the curvature. Functional outcome regarding penile straightening, erectile function, and patient satisfaction were evaluated. Furthermore, clinical data concerning the early postoperative outcome were analyzed retrospectively. The mean follow-up period was 21 months (range 6-62 months). Mean age at surgery was 23.8 years (range 15-47 years). Mean degree of curvature was 65° (range 45-90°). There was no recurrent curvature. Complete correction of the penile axis was obtained in 98.6% (n = 143). No change in erectile function according to International Index of Erectile Function-5 score was visible (P = 0.748). The mean loss of penile length was 0.7 cm (range 0.3-0.9 cm). The excellent functional outcomes resulted in a high level of patient satisfaction, including improved self-esteem, libido, sexual intercourse, and psychosexual relief. Two patients had a residual curvature of up to 30° requiring a reoperation. No intra- or postoperative complications were encountered. We recommend the STAGE technique as the optimal

  18. Simple D-transposition of great arteries operated at the age of 11 years

    PubMed Central

    Asfalou, Iliyasse; Touati, Zakia; Amri, Rachida; Cherti, Mohammed

    2012-01-01

    The simple transposition of the great arteries is a lethal congenital heart disease. The life expectancy of unoperated patients is about 9 months. We report the original observation of a girl with unoperated simple transposition of the great arteries, who survived until the age of 11 years. An atrial switch was successfully performed according to the technique of Senning–Mustard. PMID:24174855

  19. Mountain climbing of the grown-up patient with non-corrected congenital heart defect.

    PubMed

    Haponiuk, Ireneusz; Gierat-Haponiuk, Katarzyna; Szalewska, Dominika; Niedoszytko, Piotr; Bakuła, Stanisław; Chojnicki, Maciej

    2016-03-01

    Congenital heart defects (CHD) are the cause of reduced physical performance. The presence of congenital abnormalities in the heart of grown-up patients contributes to excessive hypo-kinesia. We present endurance parameters and a personalized comprehensive cardiac rehabilitation program before an extreme mountain climbing of a 27-year-old patient with an uncorrected ventricular septal defect (VSD). A 26-year-old female patient with an uncorrected congenital VSD was admitted to the department of cardiac rehabilitation before the planned high-mountain expedition. Professional preparation and assessment of actual exercise capacity was performed before scheduled extreme climbing. We conclude that physical activity associated with a heavy load in people with uncorrected CHD who have not developed pulmonary hypertension and reverse right-to-left flow seems to be safe, while participation of grown-up patients with congenital heart disease (GUCH) in extreme mountain climbing requires special preparation, individually designed endurance training and education program, conducted by the team of professionals in specialist centers.

  20. Early frontalis flap surgery as first option to correct congenital ptosis with poor levator function.

    PubMed

    Medel, Ramon; Vasquez, Luzmaria; Wolley Dod, Charlotte

    2014-06-01

    In congenital blepharoptosis the upper eyelid cannot be lifted normally because of congenital impairment in the levator function. The descended eyelid margin partially or completely obstructs of the visual axis with the consequent risk of amblyopia. Frontalis suspension is the surgery of choice for ptosis with poor levator function creating a linkage between the frontalis muscle and the tarsus; the frontalis muscle is used to elevate the eyelid. Direct transplantation of frontalis muscle to the upper eyelid has been widely described. We report our experience using frontalis flap in congenital ptosis with poor levator function in children. Retrospective study of 30 eyes with severe congenital ptosis and poor levator function treated by means of direct frontalis flap. Mean age 2 years. Eyelid measurements were taken at baseline, 1, 3, 12 months postoperatively and last visit. Mean ptosis degree was 5 mm (3-8 mm) and levator function 2 mm (1-5 mm). The presence of complications, flap function and palpebral contour were evaluated. Mean follow up time was 27 months. At last visit, ptosis degree ranged from 0 to 3 mm. Direct advancement of the frontalis muscle to treat severe eyelid ptosis is effective and stable in the long term avoiding the use of a linking structure, therefore the risk of foreign-body reaction, absorption, granuloma and late exposure, as well as the need for a second visible incision in the forehead. Patients learn how to control the lid height by means of the frontalis muscle achieving more symmetry.

  1. Transposition Flaps: Principles and Locations.

    PubMed

    Blake, Brett P; Simonetta, Cassandra J; Maher, Ian A

    2015-10-01

    Transposition flaps are frequently used to repair defects of the head and neck after tumor extirpation with Mohs micrographic surgery. To review the basic principles underlying single-stage transposition flaps and also their utility relative to location on the head and neck. A review of the literature on transposition flaps was performed with specific reference to the principles of single-stage transposition flaps, including rhomboid flaps and their variations, multilobed flaps, and the locations where transposition flaps are frequently executed on the head and neck. Numerous articles have been written with regard to the techniques for designing and executing transposition flaps. The primary advantages of transposition flaps include less undermining as compared to large sliding flaps and the superior ability to displace tension away from the defect and from free margins. Optimal cosmesis with these flaps can be achieved with appropriate sizing of flaps (or lobes), appropriate undermining, and meticulous suturing. The versatility of transposition flaps makes them optimal for repair of defects on the head and neck and utilization of the outlined key principles and techniques aid in achieving an aesthetic result.

  2. Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells.

    PubMed

    Robert-Richard, Elodie; Moreau-Gaudry, François; Lalanne, Magalie; Lamrissi-Garcia, Isabelle; Cario-André, Muriel; Guyonnet-Dupérat, Véronique; Taine, Laurence; Ged, Cécile; de Verneuil, Hubert

    2008-01-01

    Achieving long-term expression of a therapeutic gene in a given hematopoietic lineage remains an important goal of gene therapy. Congenital erythropoietic porphyria (CEP) is a severe autosomal-recessive disorder characterized by a deficiency in uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosynthetic pathway. We used a recently obtained murine model to check the feasibility of gene therapy in this disease. Lentivirus-mediated transfer of the human UROS cDNA into hematopoietic stem cells (HSCs) from Uros(mut248) mice resulted in a complete and long-term enzymatic, metabolic, and phenotypic correction of the disease, favored by a survival advantage of corrected red blood cells. These results demonstrate that the cure of this mouse model of CEP at a moderate transduction level supports the proof of concept of a gene therapy in this disease by transplantation of genetically modified hematopoietic stem cells.

  3. Effective Gene Therapy of Mice with Congenital Erythropoietic Porphyria Is Facilitated by a Survival Advantage of Corrected Erythroid Cells

    PubMed Central

    Robert-Richard, Elodie; Moreau-Gaudry, François; Lalanne, Magalie; Lamrissi-Garcia, Isabelle; Cario-André, Muriel; Guyonnet-Dupérat, Véronique; Taine, Laurence; Ged, Cécile; de Verneuil, Hubert

    2008-01-01

    Achieving long-term expression of a therapeutic gene in a given hematopoietic lineage remains an important goal of gene therapy. Congenital erythropoietic porphyria (CEP) is a severe autosomal-recessive disorder characterized by a deficiency in uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosynthetic pathway. We used a recently obtained murine model to check the feasibility of gene therapy in this disease. Lentivirus-mediated transfer of the human UROS cDNA into hematopoietic stem cells (HSCs) from Urosmut248 mice resulted in a complete and long-term enzymatic, metabolic, and phenotypic correction of the disease, favored by a survival advantage of corrected red blood cells. These results demonstrate that the cure of this mouse model of CEP at a moderate transduction level supports the proof of concept of a gene therapy in this disease by transplantation of genetically modified hematopoietic stem cells. PMID:18179890

  4. Robotically assisted endoscopic ovarian transposition.

    PubMed

    Molpus, Kelly L; Wedergren, June S; Carlson, Mark A

    2003-01-01

    Ovarian transposition is the anatomical relocation of the ovaries from the pelvis to the abdomen. Transposition is beneficial in women who are to undergo pelvic radiation, because it allows maintenance of ovarian function and preservation of assisted reproductive capacity. The da Vinci surgical system (Intuitive Surgical, Mountainview, CA, USA) was used to perform an endoscopic ovarian transposition. The ovaries were mobilized on their respective infundibulopelvic ligaments and sutured to the ipsilateral pericolic gutters. A series, of laboratory sessions using the da Vinci system was completed at our institution's training facility. Surgical experience included cadaveric pelvic dissection and abdominopelvic procedures on anesthetized porcine models. Additional didactic and laboratory training, including a certification examination, was obtained from Intuitive Surgical, Inc. The first clinical case of robotically assisted endoscopic ovarian transposition was performed. Robotically assisted endoscopy was successfully used for ovarian transposition.

  5. Thoracoscopic correction of a congenital persistent right aortic arch in a young cat

    PubMed Central

    Plesman, Rhea; Johnson, Matthew; Rurak, Sarah; Ambrose, Barbara; Shmon, Cindy

    2011-01-01

    A 9-week-old kitten was diagnosed with a congenital vascular ring anomaly by means of an esophageal contrast study. At 6 mo of age, a non-selective vascular study was used to diagnose a persistent right aortic arch (PRAA). Left-sided thoracoscopic surgery was performed, using a Liga-Sure vessel sealant device to seal and transect the ligamentum arteriosum. PMID:22467970

  6. Primary Prevention of Sudden Cardiac Death in Adults with Transposition of the Great Arteries: A Review of Implantable Cardioverter-Defibrillator Placement

    PubMed Central

    Cedars, Ari M.

    2015-01-01

    Transposition of the great arteries encompasses a set of structural congenital cardiac lesions that has in common ventriculoarterial discordance. Primarily because of advances in medical and surgical care, an increasing number of children born with this anomaly are surviving into adulthood. Depending upon the subtype of lesion or the particular corrective surgery that the patient might have undergone, this group of adult congenital heart disease patients constitutes a relatively new population with unique medical sequelae. Among the more common and difficult to manage are cardiac arrhythmias and other sequelae that can lead to sudden cardiac death. To date, the question of whether implantable cardioverter-defibrillators should be placed in this cohort as a preventive measure to abort sudden death has largely gone unanswered. Therefore, we review the available literature surrounding this issue. PMID:26413012

  7. Primary Prevention of Sudden Cardiac Death in Adults with Transposition of the Great Arteries: A Review of Implantable Cardioverter-Defibrillator Placement.

    PubMed

    Sodhi, Sandeep S; Cedars, Ari M

    2015-08-01

    Transposition of the great arteries encompasses a set of structural congenital cardiac lesions that has in common ventriculoarterial discordance. Primarily because of advances in medical and surgical care, an increasing number of children born with this anomaly are surviving into adulthood. Depending upon the subtype of lesion or the particular corrective surgery that the patient might have undergone, this group of adult congenital heart disease patients constitutes a relatively new population with unique medical sequelae. Among the more common and difficult to manage are cardiac arrhythmias and other sequelae that can lead to sudden cardiac death. To date, the question of whether implantable cardioverter-defibrillators should be placed in this cohort as a preventive measure to abort sudden death has largely gone unanswered. Therefore, we review the available literature surrounding this issue.

  8. Should what we know about neurobehavioral development, complex congenital heart disease, and brain maturation affect the timing of corrective cardiac surgery?

    PubMed

    DiNardo, James A

    2011-07-01

    Despite remarkable improvements in perioperative care, adverse neurobehavioral outcomes following neonatal and infant cardiac surgery are commonplace and are associated with substantial morbidity. It is becoming increasingly clear that complex congenital heart disease is associated with both abnormalities in neuroanatomic development and a delay in fetal brain maturation. Substantial cerebral ischemic/hypoxic injury has been detected in neonates with complex congenital heart disease both prior to and following corrective cardiac surgery. The brain of the neonate with complex congenital heart disease appears to be uniquely vulnerable to the types of ischemic/hypoxic injury associated with perioperative care. It remains to be determined whether delaying surgical correction to allow for brain maturation will be associated with improvements in neurobehavioral outcomes.

  9. Femoral shortening in correction of congenital knee flexion deformity with popliteal webbing.

    PubMed

    Saleh, M; Gibson, M F; Sharrard, W J

    1989-01-01

    Severe knee flexion deformity with popliteal webbing or pterygium is considered to be uncorrectable. The soft tissues and, in particular, the main nerves and vessels are short relative to the bone. Femoral shortening was used in correction of such a deformity in a child with arthrogryposis. The operative procedure is described. Femoral shortening should be considered as an aid to correction of any severe knee flexion deformity.

  10. Under-through levator complex plication for correction of mild to moderate congenital ptosis.

    PubMed

    Hong, Sung Pyo; Song, Seung Yong; Cho, In Chang

    2014-01-01

    Congenital ptosis is most commonly of mild to moderate severity, with good to fair levator function. The appropriate procedures for this condition are levator resection or levator aponeurosis approaches. Among the latter, the levator plication method has received little attention because of a relatively high rate of ptosis recurrence secondary to weak adhesion. In this study, the authors described and retrospectively analyzed the results of an alternative plication technique, the "under-through levator complex plication" method. This method differs from conventional levator plication primarily by the posterior part of the levator complex being advanced to the tarsal plate to produce strong adhesion. Five hundred and ten eyelids of 255 consecutive patients who underwent the under-through levator complex plication for congenital bilateral symmetrical ptosis were included in this study. Final outcomes were assessed at more than 5 months after surgery. The mean preoperative and postoperative marginal reflex distance 1 (MRD1) were 1.73 and 3.71 mm, respectively, and the mean amount of levator plication for every 1-mm increase in MRD1 was 3.31 mm. After the levator complex was plicated by the amount planned preoperatively, 65.1% of eyelids were at the target height. After subsequent intraoperative adjustments of the amount of plication, the overall surgery success rate was 94.5%. Recurrent ptosis due to relapse was not observed. The newly described surgical technique has overcome the limitations of conventional levator plication, by increasing the success rate and markedly reducing the relapse rate, while preserving the advantages of the conventional technique.

  11. Surgery for transposition of great arteries: A historical perspective.

    PubMed

    Marathe, Supreet P; Talwar, Sachin

    2015-01-01

    The history of surgery for transposition of great arteries (TGA) has paralleled the history of cardiac surgery. In fact, it began before the birth of open heart surgery when the palliative Blalock-Hanlon septectomy was first performed in 1948. The atrial switch, which was an attempt to correct the physiology of transposition, had significant shortcomings. The arterial switch sought to address them. This has emerged as an anatomically as well as physiologically appropriate solution. Today we continue to pursue technical refinements as well as try to expand the indications of the arterial switch. This review traces the various milestones in this perpetual journey.

  12. Surgery for transposition of great arteries: A historical perspective

    PubMed Central

    Marathe, Supreet P; Talwar, Sachin

    2015-01-01

    The history of surgery for transposition of great arteries (TGA) has paralleled the history of cardiac surgery. In fact, it began before the birth of open heart surgery when the palliative Blalock–Hanlon septectomy was first performed in 1948. The atrial switch, which was an attempt to correct the physiology of transposition, had significant shortcomings. The arterial switch sought to address them. This has emerged as an anatomically as well as physiologically appropriate solution. Today we continue to pursue technical refinements as well as try to expand the indications of the arterial switch. This review traces the various milestones in this perpetual journey. PMID:26085763

  13. [Perspectives in the management of congenital heart defects in adult patients].

    PubMed

    Hartyánszky, István; Varga, Sándor; Havasi, Kálmán; Babik, Barna; Katona, Márta; Bogáts, Gábor

    2015-01-18

    Due to improving results in congenital heart surgery, the number of adult patients with congenital heart defect is increasing. The question is: what kind of problems can be managed in this patient-group? The authors review the different problems of management of congenital heart defects in adults based on national and international literature data. Simple defects recognised in adults, postoperative residual problems, changing of small grafts and valves, correction of primary or operated coarctation aortae can be usually managed without problems. A very close follow-up is necessary to establish the correct period for heart transplantation in patients with transposition of great arteries with Senning/Mustard operation, and univentricular heart corrected with "Fontan-circulation" type surgical procedure. The authors conclude that although the number of patients increases, only a few congenital heart diseases may cause problems. It seems important (1) to monitor asymptomatic patient who underwent operation (Fallot-IV, Ross procedure, etc.), (2) follow up regularly patients who underwent Senning/Mustard procedure (magnetic resonance imaging, echocardiography, brain natriuretic peptide measurement), (3) define the proper period of preparation for heart transplantation of patients with a univentricular heart, with special attention to the possibility of multiorgan (lung, liver, etc.) failure. Due to the improvement of foetal diagnosis of congenital heart defects, the number of patients with complex congenital heart defects is decreasing. The standard management of these patients could be primary heart transplantation in infancy.

  14. Successful total correction of congenital interruption of the aortic arch and ventricular septal defect

    PubMed Central

    Singh, M. P.; Bentall, H. H.; Oakley, C. M.

    1970-01-01

    Successful surgical correction of the complex anomaly of interruption of the aortic arch and intracardiac ventricular septal defect is reported. The patient was a boy 5 years old when he first came under treatment. The total correction was performed in two stages. At the first operation, at the age of 7 years, continuity of the aortic arch was achieved by insertion of a Teflon graft, employing left heart bypass. The ventricular septal defect was closed at the age of 13 years on total cardiopulmonary bypass. Two and half years after the total correction the boy is alive and well. The difficulties in diagnosing the condition are discussed. The role of left heart bypass is emphasized. Images PMID:5489187

  15. Beta-Blockers in Children with Congenital Heart Disease Before a Corrective Procedure.

    PubMed

    Buchhorn, Reiner

    2014-01-01

    The prevalence of heart failure in patients with congenital heart disease, mainly due to large left to right shunts, is as high as 20%. Heart failure has a high impact on prognosis, growth and neurodevelopment. Prior to surgery or after palliative procedures children need a medical heart failure therapy. The traditional therapy with digoxin, diuretics and ACE-inhibitors is not supported by prospective randomized trials. Propranolol had a significant beneficial effect on the clinical heart failure score, neurohormonal activation, heart rate variability and cardiac remodeling in the prospective randomized trial CHF-Pro-Infant. Beta-blocker dosages depend on heart rate with a target between 100 and 110 bpm in infants and an average dose of 2mg/kg/day after a titration period of 2 to 3 weeks. Within the last 18 years after the first case the author treated only infants with severe heart failure and highly elevated Pro-BNP-levels (8879 pg/ml on average). However we never observed serious side effects due to worsening heart failure, severe bradycardia or pulmonary obstruction. Diuretics are given as low as necessary to prevent the activation of the renin-angiotensin-aldosterone system with its detrimental effect on cardiac remodeling.

  16. [Outcome of operated transposition of the great vessels].

    PubMed

    Rouault, F A

    2002-11-01

    The object of this report is to describe the long-term outcome of patients operated for transposition of the great vessels. Understanding what we mean by transposition of the great vessels, the surgical options with their advantages, limitations and complications, helps the cardiologist decide on the mode of follow-up, the investigations and even the reoperations that these patients may need. The authors review the results of the literature and their experience over the years with children and adults with congenital heart disease. Although considerable progress has been made in the management of a condition considered to be constantly and often rapidly fatal, most of the procedures which allow patients to have a normal or quasi-normal quality of life have not resolved all the problems and require maintenance of long-term follow-up.

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

    PubMed

    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. Cardiac transplantation in a patient with a single ventricle and transposition of the great vessels.

    PubMed

    Richenbacher, W E; Karwande, S V; Shaddy, R E; Renlund, D G; Bristow, M R; O'Connell, J B; Gay, W A

    1991-10-01

    The technical details of orthotopic cardiac transplantation in a 17-year-old man with a single ventricle and transposition of the great vessels are described. Special considerations in the evaluation and management of patients with complex congenital heart disease who are to undergo cardiac transplantation are delineated.

  19. Non-surgical correction of congenital deformities of the auricle: a systematic review of the literature.

    PubMed

    van Wijk, M P; Breugem, C C; Kon, M

    2009-06-01

    Splinting is an elegant non-surgical method to correct ear deformities in the newborn. Since the late 1980s, many authors demonstrated that permanent correction occurs by forcing the ear into the proper position for several weeks. The external ear anomalies suitable for splinting have a common feature that no skin or cartilage is absent; the protruding, lop and Stahl's ears are good examples of these anomalies. Surprisingly, this technique is relatively unknown to plastic surgeons and is hardly ever communicated to the general public. To review the literature on non-surgical correction of ear deformities, focussing on indications, technique, results and possible complications. A systematic literature search was performed in July 2008 using PubMed. Twenty papers were suitable for review. Splinting can be performed in many ways, provided that the ear is permanently kept in the desired shape without distorting it. It is disputable until what age splinting therapy can reasonably be offered--opinions vary from 'newborn only' to well up to 3 or 6 months of age. A rigid fixation seems to allow correction in older children. The time needed to splint for permanent correction depends upon the age at the time of starting the treatment. For a newborn, 2 weeks often suffice, whereas for older children splinting time becomes more variable--up to 6 months. Most patients we treated had lop, Stahl's or prominent ears. In a case series in Japan, cryptotia was the most frequent deformity encountered. Most authors made their own judgement on the results, categorising their outcomes from poor to excellent, or asked a lay opinion. Fair-to-excellent results were reported in 70-100% of the cases. The results tended to be poor in older children. Recurrence was seldom described clearly in the literature and was probably listed as poor result. No serious complications occurred and skin irritation was seen sporadically. Ear splinting is an elegant technique that should be practised on a wider

  20. Congenital ptosis.

    PubMed

    SooHoo, Jeffrey R; Davies, Brett W; Allard, Felicia D; Durairaj, Vikram D

    2014-01-01

    Congenital blepharoptosis presents within the first year of life either in isolation or as a part of many different ocular or systemic disorders. Surgical repair is challenging, and recurrence necessitating more than one operation is not uncommon. Not all patients with congenital ptosis require surgery, but children with amblyopia due to astigmatic anisometropia or deprivation may benefit from early surgical correction. A variety of surgical procedures to correct congenital ptosis have been described. The choice of procedure depends on a number of patient-specific factors, such as degree of ptosis and levator function, as well as surgeon preference and resource availability. We review the genetics, associated syndromes, and surgical treatments of congenital ptosis. Copyright © 2014 Elsevier Inc. All rights reserved.

  1. Radionuclide measurement of right ventricular function in atrial septal defect, ventricular septal defect and complete transposition of the great arteries

    SciTech Connect

    Baker, E.J.; Shubao, C.; Clarke, S.E.; Fogelman, I.; Maisey, M.N.; Tynan, M.

    1986-05-01

    Right ventricular (RV) function was assessed in 80 patients with congenital heart disease by first-pass and gated equilibrium radionuclide angiography. In 30 patients with a ventricular septal defect (VSD) the mean RV ejection fraction (+/- standard deviation) was 64 +/- 7%. In 30 patients with a secundum atrial septal defect it was 61 +/- 9% and in 20 patients with surgically corrected complete transposition of the great arteries it was 49 +/- 13%. These values are in close agreement with values established with cineangiography for similar groups of patients. The mean ejection fraction in the group with transposition of the great arteries was significantly less than in the group with VSD (p less than 0.001). Phase analysis of the equilibrium studies showed that there was delayed RV contraction in many patients in the absence of conduction abnormalities. This delay was significantly greater in patients with atrial septal defect than in those with VSD (p less than 0.05). There was a strong correlation between size of left-to-right shunt and phase delay in patients with VSD (r = -0.72). Thus, first-pass gated radionuclide angiography provides a valid measurement of RV ejection fraction, and delayed RV contraction on phase analysis may be a sensitive index of early RV dysfunction.

  2. Correction of deficient CD34+ cells from peripheral blood after mobilization in a patient with congenital erythropoietic porphyria.

    PubMed

    Mazurier, F; Géronimi, F; Lamrissi-Garcia, I; Morel, C; Richard, E; Ged, C; Fontanellas, A; Moreau-Gaudry, F; Morey, M; de Verneuil, H

    2001-03-01

    Congenital erythropoietic porphyria (CEP) is an inherited disease due to a deficiency in the uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme pathway. It is characterized by accumulation of uroporphyrin I in the bone marrow, peripheral blood, and other organs. The onset of most cases occurs in infancy and the main symptoms are cutaneous photosensitivity and hemolysis. For severe transfusion-dependent cases, when allogeneic cell transplantation cannot be performed, autografting of genetically modified primitive/stem cells is the only alternative. In the present study, efficient mobilization of peripheral blood primitive CD34(+) cells was performed on a young adult CEP patient. Retroviral transduction of this cell population with the therapeutic human UROS (hUS) gene resulted in both enzymatic and metabolic correction of CD34(+)-derived cells, as demonstrated by the increase in UROS activity and by a 53% drop in porphyrin accumulation. A 10-24% gene transfer efficiency was achieved in the most primitive cells, as demonstrated by the expression of enhanced green fluorescent protein (EGFP) in long-term culture-initiating cells (LTC-IC). Furthermore, gene expression remained stable during in vitro erythroid differentiation. Therefore, these results are promising for the future treatment of CEP patients by gene therapy.

  3. Emergency Corrective Surgery of Congenital Diaphragmatic Hernia With Pulmonary Hypertension: Prolonged Use of Dexmedetomidine as a Pharmacologic Adjunct

    PubMed Central

    Das, Badri Prasad; Singh, Anil Prasad; Singh, Ram Badan

    2016-01-01

    Introduction: Underdevelopment of the lung parenchyma associated with abnormal growth of pulmonary vasculature in neonates with congenital diaphragmatic hernia results in pulmonary hypertension which mandates smooth elective mechanical ventilation in postoperative period, for proper alveolar recruitment and oxygenation, allowing lungs to mature enough for its functional anatomy and physiology. Dexmedetomidine is sympatholytic, reduces pulmonary vascular resistance and exerts sedative and analgesic property to achieve stable hemodynamics during elective ventilation. Neonatal experience with dexmedetomidine has been predominately in the form of short term or procedural use as a sedative. Case Presentation: The preliminary clinical experience with pre-induction to 48 hours postoperative use of dexmedetomidine infusion as a pharmacologic adjunct in the emergency corrective surgery of three such neonates are presented. Conclusions: Hemodynamics remained virtually stable during the whole procedure and post-operative pain relief and recovery profile were satisfactory. The prolonged infusion was well tolerated with a gradual trend towards improved oxygen saturation. Careful planning of the anesthetic management and the ability to titrate the adjunct utilized for smooth postoperative ventilation are the keys to ameliorate the complications encountered and favorable outcomes achieved in such patients. PMID:27635388

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

    PubMed

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

    2017-06-14

    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. Mortality in adults with congenital heart disease.

    PubMed

    Naidu, Pavithra; Grigg, Leeanne; Zentner, Dominica

    2017-10-15

    Retrospective ascertainment of the causes of mortality in the adult congenital heart disease (ACHD) cohort of the Royal Melbourne Hospital (RMH). Deceased patients (n=73) of the 2519 ACHD patients in the Royal Melbourne Hospital registry (commenced in 1991) were identified. Retrospective analysis was undertaken. Age, gender of deceased individuals, and frequency and cause of death in different congenital diagnosis groups was explored. Between 1991 and 2015, death occurred in 3.3% of the ACHD cohort. Median age at death was 32years (IQR 26-41.5) and 51% were male. The most frequent underlying cardiac conditions were Eisenmenger's syndrome (22%), pulmonary atresia and ventricular septal defect+/-major aorto-pulmonary collateral arteries (12%), Tetralogy of Fallot (10%), transposition of great arteries (TGA) with intact ventricular septum (8%), single ventricle (8%) and congenitally corrected TGA (5%). The cause of death was available from medical records in 60 (82%) of the 73 patients. The majority of deaths were due to cardiac causes (67%) including sudden death (40%), heart failure (13%), and documented ventricular arrhythmias (8%). The most common non-cardiac cause of death was sepsis (10%). The majority of deaths in this group were due to cardiac causes with sudden death and heart failure being the most common. Identification of risk factors for sudden death might assist identification of patients who may benefit from preventative therapies including implantable cardiac defibrillator. Copyright © 2017 Elsevier B.V. All rights reserved.

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

    PubMed Central

    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. PMID:28119788

  7. Curricular Transposition in Citizenship Education

    ERIC Educational Resources Information Center

    McCowan, Tristan

    2008-01-01

    The considerable debate in recent years on the aims of citizenship education has not been accompanied by an equally substantial discussion on the educational processes involved. This article puts forward a theoretical framework, referred to as "curricular transposition", for understanding the complex task of realizing normative ideals of…

  8. Intrahepatic Transposition of Bile Ducts

    PubMed Central

    Delić, Jasmin; Savković, Admedina; Isaković, Eldar; Marković, Sergije; Bajtarevic, Alma; Denjalić, Amir

    2012-01-01

    Objective. To describe the intrahepatic bile duct transposition (anatomical variation occurring in intrahepatic ducts) and to determine the frequency of this variation. Material and Methods. The researches were performed randomly on 100 livers of adults, both sexes. Main research methods were anatomical macrodissection. As a criterion for determination of variations in some parts of bile tree, we used the classification of Segmentatio hepatis according to Couinaud (1957) according to Terminologia Anatomica, Thieme Stuugart: Federative Committee on Anatomical Terminology, 1988. Results. Intrahepatic transposition of bile ducts was found in two cases (2%), out of total examined cases (100): right-left transposition (right segmental bile duct, originating from the segment VIII, joins the left liver duct-ductus hepaticus sinister) and left-right intrahepatic transposition (left segmental bile duct originating from the segment IV ends in right liver duct-ductus hepaticus dexter). Conclusion. Safety and success in liver transplantation to great extent depends on knowledge of anatomy and some common embryological anomalies in bile tree. Variations in bile tree were found in 24–43% of cases, out of which 1–22% are the variations of intrahepatic bile ducts. Therefore, good knowledge on ductal anatomy enables good planning, safe performance of therapeutic and operative procedures, and decreases the risk of intraoperative and postoperative complications. PMID:22550601

  9. Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: complex congenital cardiac lesions.

    PubMed

    Silversides, Candice K; Salehian, Omid; Oechslin, Erwin; Schwerzmann, Markus; Vonder Muhll, Isabelle; Khairy, Paul; Horlick, Eric; Landzberg, Mike; Meijboom, Folkert; Warnes, Carole; Therrien, Judith

    2010-03-01

    With advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. They have distinctive forms of heart failure and their cardiac disease can be associated with pulmonary hypertension, thromboemboli, complex arrhythmias and sudden death. Medical aspects that need to be considered relate to the long-term and multisystemic effects of single ventricle physiology, cyanosis, systemic right ventricles, complex intracardiac baffles and failing subpulmonary right ventricles. Since the 2001 Canadian Cardiovascular Society Consensus Conference report on the management of adults with CHD, there have been significant advances in the field of adult CHD. Therefore, new clinical guidelines have been written by Canadian adult CHD physicians in collaboration with an international panel of experts in the field. Part III of the guidelines includes recommendations for the care of patients with complete transposition of the great arteries, congenitally corrected transposition of the great arteries, Fontan operations and single ventricles, Eisenmenger's syndrome, and cyanotic heart disease. Topics addressed include genetics, clinical outcomes, recommended diagnostic workup, surgical and interventional options, treatment of arrhythmias, assessment of pregnancy risk and follow-up requirements. The complete document consists of four manuscripts, which are published online in the present issue of The Canadian Journal of Cardiology. The complete document and references can also be found at www.ccs.ca or www.cachnet.org.

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

    PubMed

    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.

  11. 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.

    PubMed

    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 < 0.05). In the type-I group, the correction rate was 48.9% at 1 week postoperatively and 42.2% at the last follow-up. In the type-II group, the correction rate was 54.7% at 1 week postoperatively and 47.9% at the last follow-up. Eleven (5.1%) of the 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

  12. Methods of Transposition of Nurses between Wards

    NASA Astrophysics Data System (ADS)

    Miyazaki, Shigeji; Masuda, Masakazu

    In this paper, a computer-implemented method for automating the transposition of a hospital’s nursing staff is proposed. The model is applied to the real case example ‘O’ hospital, which performs a transposition of its nursing staff once a year. Results are compared with real data obtained from this hospital’s current manual transposition system. The proposed method not only significantly reduces the time taken to construct the transposition, thereby significantly reducing management labor costs, but also is demonstrated to increase nurses’ levels of satisfaction with the process.

  13. Platelet adhesiveness and aggregation in congenital afibrinogenemia. An investigation of three patients with post-transfusion, cross-correction studies between two of them.

    PubMed

    Girolami, A; De Marco, L; Virgolini, L; Peruffo, R; Fabris, F

    1975-02-01

    Platelet adhesiveness and aggregation were studied in three patients with congenital afibrinogenemia. The results obtained may be summarized as follows: The retention of platelets to a glass-bead filter determined with the Salzman method was significantly decreased; it was normal after fibrinogen infusion. With a modification of the Hellem test the values obtained were slightly decreased. Adrenalin-induced aggregation was absent whereas ADP-and collagen-induced aggregation was near normal or slightly decreased. Thrombofax aggregation was absent in citrated plasma. The abnormalities of platelet aggregation were corrected after fibrinogen infusion or after addition in vitro of fibrinogen, hemofilia A plasma and PPP obtained from an afibrinogenemic patient after fibrinogen infusion. The abnormalities of platelet aggregation were corrected well by ADP, collagen and Thrombofax in heparinized blood, but only a slight correction of adrenalin-induced aggregation was noted. Thrombin aggregation proved to be normal with the higher concentrations, whereas it was defective with the lower ones. Ristocetin aggregation was normal in citrated plasma at the concentration of 1.5 mg per ml but it was absent at the lower concentration (1.0 mg per ml). Ristocetin aggregation was, on the other hand absent in heparinized blood regardless of the concentration. These findings are in agreement with the presence of a prolonged bleeding time in congenital afibrinogenemia and suggest that fibrinogen plays an important role in platelet aggregation and adhesiveness.

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

    PubMed

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

    2010-12-01

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

  15. Syllable Transposition Effects in Korean Word Recognition

    ERIC Educational Resources Information Center

    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…

  16. Syllable Transposition Effects in Korean Word Recognition

    ERIC Educational Resources Information Center

    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…

  17. Dental transposition of canine and lateral incisor and impacted central incisor treatment: A case report

    PubMed Central

    Gebert, Tarcisio Jacinto; Palma, Vinícius Canavarros; Borges, Alvaro Henrique; Volpato, Luiz Evaristo Ricci

    2014-01-01

    Introduction Dental transposition and impaction are disorders related to ectopic eruption or failure in tooth eruption, which can affect child physical, mental and social development and may be difficult to be clinically solved. Methods We describe a case of transposition between the upper left canine and lateral incisor associated with impaction of the central incisor on the same side, in a 12-year-old patient. Conservative treatment involving surgical-orthodontic correction of transposed teeth and traction of the central incisor was conducted. Conclusion The option of correcting transposition and orthodontic traction by means of the segmented arch technique with devices such as cantilever and TMA rectangular wire loops, although a complex alternative, was proved to be esthetically and functionally effective. PMID:24713567

  18. Correction

    NASA Astrophysics Data System (ADS)

    1995-04-01

    Seismic images of the Brooks Range, Arctic Alaska, reveal crustal-scale duplexing: Correction Geology, v. 23, p. 65 68 (January 1995) The correct Figure 4A, for the loose insert, is given here. See Figure 4A below. Corrected inserts will be available to those requesting copies of the article from the senior author, Gary S. Fuis, U.S. Geological Survey, 345 Middlefield Road, Menlo Park, CA 94025. Figure 4A. P-wave velocity model of Brooks Range region (thin gray contours) with migrated wide-angle reflections (heavy red lines) and migreated vertical-incidence reflections (short black lines) superimposed. Velocity contour interval is 0.25 km/s; 4,5, and 6 km/s contours are labeled. Estimated error in velocities is one contour interval. Symbols on faults shown at top are as in Figure 2 caption.

  19. [Correction of the congenital malformations of the front chest wall by the modelling technique of sternochondroplasty: technique and results on a series of 14 cases].

    PubMed

    Duhamel, P; Brunel, C; Le Pimpec, F; Pons, F; Jancovici, R

    2003-04-01

    In the congenital malformations of the front chest wall showing depression or protrusion, the cardiorespiratory disorders are inconstant and often not linked with the distortion. On the other hand psychoaffective repercussions are major in adolescents and young adults justifying recourse to surgery with morphological and aesthetic aiming. The authors present the technique of modelling sternochondroplasty by raising with osteosynthesis by slide fastener-handle of Martin-Borrelly, applied to the correction of congenital malformation of the front chest wall in young adult, both of protrusion (pectus carinatum), of thoraxes in funnel (pectus excavatum) types or of mixed types (pectus arcuatum). This surgical replanning intervention is carried out by under-mammary way and aims at reestablishing a normal anatomy of the front chest wall. It leads to a genuine wide sternochondrocostal volet, which is stabilised by a specific, multipurpose, adaptable and reliable osteosynthesis equipment. The results obtained on a series of 14 cases are good or excellent in 86% of the cases and stable over time in the absence of major complications. A good cooperation of the patient is essential to obtain a good result in particular via the continuation of musculation exercises after assembly consolidation, possibly associated with remote mammary plastic surgery in the event of hypoplasia or of associated mammary agenesia.

  20. Efficacy of linear frequency transposition on consonant identification in quiet and in noise.

    PubMed

    Kuk, Francis; Keenan, Denise; Korhonen, Petri; Lau, Chi-Chuen

    2009-09-01

    (V1), transposition at initial fit (V2), transposition at one month post-fit (V3), and transposition at 2 months post-fit (V4). Identification scores were analyzed for each individual phoneme and phonemic class. Repeated-measures ANOVA were conducted using SPSS software to examine significant differences. For all test conditions (50 dB SPL in quiet, 68 dB SPL in quiet, and 68 dB SPL in noise), a statistically significant difference (p < 0.05 level) was reached between the transposition condition measured at two months postfitting and the initial fitting (with and without transposition) for fricatives only. The difference between transposition and the no-transposition conditions at the 50 dB SPL condition was also significant for the initial and one-month intervals. Analysis of individual phonemes showed a decrease in the number of confusions and an increase in the number of correct identification over time. Linear frequency transposition improved fricative identification over time. Proper candidate selection with appropriate training is necessary to fully realize the potential benefit of this type of processing.

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

    PubMed

    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.

  2. Maxillary canine-to-maxillary incisor transposition.

    PubMed

    Lin, Yng-Tzer J

    2013-01-01

    Dental transposition is the positional interchange of two adjacent teeth. Canine transpositions are usually accompanied by other dental anomalies, such as: impaction of the incisors; missing teeth; peg-shaped lateral incisors; severe rotation or malposition of adjacent teeth; dilacerations; and malformations. Local pathologic processes, such as tumors, cysts, retained primary canines, and supernumerary teeth, might be responsible for canine transposition. The purpose of this paper was to present a rare case of maxillary canine-to-maxillary incisor transposition in an 8-year-old girl. The patient presented with noneruption of the permanent maxillary left central incisor, and a radiographic examination revealed an impacted dilacerated incisor. The central incisor was extracted because the root was severely dilacerated. At the 3-year follow-up, an oral examination revealed that the canine had transposed to the extraction site. Through orthodontic traction, combined with reshaping of the tooth, the transposed canine was successfully positioned into the incisor position.

  3. Frontalis muscle transfer technique for correction of severe congenital blepharoptosis in Chinese patients: An analysis of surgical outcomes related to frontalis muscle function.

    PubMed

    Liu, Hai-Peng; Shao, Ying; Li, Bing; Yu, Xiaojie; Zhang, Duo

    2015-12-01

    The aim of this study is to evaluate the surgical outcomes related to frontalis muscle function using the frontalis muscle transfer technique in Chinese patients with severe congenital blepharoptosis and poor levator function. Between December 2003 and December 2011, using the frontalis muscle transfer technique, 37 patients of Chinese origin underwent surgery on 53 eyelids. The frontalis muscle function was assessed and categorized as poor (excursion ≤ 7 mm) and good (excursion > 7 mm) before the surgery. The results, including complications of the treatment procedure, were followed up and evaluated. Using the Cochran-Mantel-Haenszel statistic, the preoperative ptosis severity was compared with the degree of ptosis correction, and the preoperative frontalis muscle function was compared with the degree of ptosis correction using Fisher's exact test for paired data. A two-sided value of p < 0.05 was considered statistically significant. Of the total eyelids considered, sufficient postoperative correction of ptosis was achieved in 43 eyelids (81.1%), while the correction was insufficient in 10 eyelids (18.9%). Fifteen (28.3%) eyelids were either overcorrected (n = 5) or undercorrected (n = 10). The rate of lagophthalmos was 3.8%. Eyelids with preoperative frontalis muscle function >7 mm had a higher rate of sufficient correction in comparison to those with preoperative frontalis muscle function ≤7 mm (91.2% vs. 63.2%; p < 0.05). However, postoperative ptosis correction had no relationship with preoperative ptosis severity. The frontalis muscle is the main motor muscle used in the correction of severe blepharoptosis via the frontalis muscle transfer technique. Although the technique is considered to be an effective surgical method for the correction of severe blepharoptosis, the outcome of the correction procedure depends on the preoperative frontalis muscle function of the patient. Copyright © 2015 British Association of Plastic, Reconstructive

  4. Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism.

    PubMed

    Kemaladewi, Dwi U; Maino, Eleonora; Hyatt, Elzbieta; Hou, Huayun; Ding, Maylynn; Place, Kara M; Zhu, Xinyi; Bassi, Prabhpreet; Baghestani, Zahra; Deshwar, Amit G; Merico, Daniele; Xiong, Hui Y; Frey, Brendan J; Wilson, Michael D; Ivakine, Evgueni A; Cohn, Ronald D

    2017-08-01

    Splice-site defects account for about 10% of pathogenic mutations that cause Mendelian diseases. Prevalence is higher in neuromuscular disorders (NMDs), owing to the unusually large size and multi-exonic nature of genes encoding muscle structural proteins. Therapeutic genome editing to correct disease-causing splice-site mutations has been accomplished only through the homology-directed repair pathway, which is extremely inefficient in postmitotic tissues such as skeletal muscle. Here we describe a strategy using nonhomologous end-joining (NHEJ) to correct a pathogenic splice-site mutation. As a proof of principle, we focus on congenital muscular dystrophy type 1A (MDC1A), which is characterized by severe muscle wasting and paralysis. Specifically, we correct a splice-site mutation that causes the exclusion of exon 2 from Lama2 mRNA and the truncation of Lama2 protein in the dy(2J)/dy(2J) mouse model of MDC1A. Through systemic delivery of adeno-associated virus (AAV) carrying clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 genome-editing components, we simultaneously excise an intronic region containing the mutation and create a functional donor splice site through NHEJ. This strategy leads to the inclusion of exon 2 in the Lama2 transcript and restoration of full-length Lama2 protein. Treated dy(2J)/dy(2J) mice display substantial improvement in muscle histopathology and function without signs of paralysis.

  5. Corrections.

    PubMed

    2015-07-01

    Lai Y-S, Biedermann P, Ekpo UF, et al. Spatial distribution of schistosomiasis and treatment needs in sub-Saharan Africa: a systematic review and geostatistical analysis. Lancet Infect Dis 2015; published online May 22. http://dx.doi.org/10.1016/S1473-3099(15)00066-3—Figure 1 of this Article should have contained a box stating ‘100 references added’ with an arrow pointing inwards, rather than a box stating ‘199 records excluded’, and an asterisk should have been added after ‘1473 records extracted into GNTD’. Additionally, the positioning of the ‘§ and ‘†’ footnotes has been corrected in table 1. These corrections have been made to the online version as of June 4, 2015.

  6. Correction.

    PubMed

    2016-02-01

    In the article by Guessous et al (Guessous I, Pruijm M, Ponte B, Ackermann D, Ehret G, Ansermot N, Vuistiner P, Staessen J, Gu Y, Paccaud F, Mohaupt M, Vogt B, Pechère-Bertschi A, Martin PY, Burnier M, Eap CB, Bochud M. Associations of ambulatory blood pressure with urinary caffeine and caffeine metabolite excretions. Hypertension. 2015;65:691–696. doi: 10.1161/HYPERTENSIONAHA.114.04512), which published online ahead of print December 8, 2014, and appeared in the March 2015 issue of the journal, a correction was needed.One of the author surnames was misspelled. Antoinette Pechère-Berstchi has been corrected to read Antoinette Pechère-Bertschi.The authors apologize for this error.

  7. Laparoscopic transposition of lower pole crossing vessels (vascular hitch) in children with pelviureteric junction obstruction

    PubMed Central

    Bleve, Cosimo; Escolino, Maria; Caione, Paolo; Gerocarni Nappo, Simona; Farina, Alessandra; Caprio, Maria Grazia; Cerulo, Mariapina; La Manna, Angela; Chiarenza, Salvatore Fabio

    2016-01-01

    Background Congenital hydronephrosis due to intrinsic or extrinsic uretero-pelvic-junction (UPJ) obstruction (UPJO) is a common problem in childhood UPJO may be caused by intrinsic disorganization or by extrinsic compression from crossing vessels (CV); extrinsic causes usually present symptomatically in older children. This report the large Italian experience in the treatment of children with extrinsic-UPJO by CV. Methods We analyzed the data of 51 children (17 girls and 34 boys, median age 10, 7 years) affected by extrinsic-UPJO were treated in three Italian institutions with laparoscopic transposition of CV (Hellström Vascular Hitch modified by Chapman).The intraoperative diuretic-test was performed in all patients before and after the vessels transpositions confirming the extrinsic-UPJO. We included in the study only patients with suspicion of vascular extrinsic obstruction of the UPJ. Symptoms at presentation were recurrent abdominal/flank pain and haematuria. All patients presented intermittent ultrasound (US) detection of hydronephrosis (range, 18–100 mm). Preoperative diagnostic studies included: US/doppler scan, MAG3-renogram, functional-magnetic-resonance-urography (fMRU). Results Median operative time was 108 minutes; median hospital stay: 3, 4 days. Unique complications: a small abdominal wall hematoma and higher junction-translocation without obstruction. During follow-up (range, 12–96 months) all patients reported resolution of their symptoms, a decrease in the hydronephrosis grade and improved drainage on diuretic renogram. Conclusions We believe that Vascular Hitch is less technically demanding than laparoscopic pyeloplasty, resulting in a lower complication rate and a significantly reduced hospitalization. The results of our study allow us to conclude that laparoscopic VH may be a safe, feasible, and attractive alternative to treat obstructed hydronephrosis due to CV presenting a useful alternative to AHDP in the management of symptomatic

  8. Ectopia and Partial Transposition of Mandibular Lateral Incisors in a Child Patient

    PubMed Central

    de Paula, Viviane Andrade Cancio; Giacomet, Felipe; Bolognese, Ana Maria; Maia, Lucianne Cople

    2011-01-01

    Dental ectopia is a rare clinical finding characterized by a change in the normal tooth eruption pathway. In more severe cases, nontreated ectopia may develop into either partial or total transposition. The early diagnosis is of crucial importance for establishing a treatment planning correctly. Therefore, the present paper is aimed at reporting an unusual case of a 11-year-old boy with ectopic eruption and partial transposition of mandibular permanent lateral incisors as well as the diagnosis and therapeutic outcomes involving such an anomaly. PMID:21991466

  9. Correction

    NASA Astrophysics Data System (ADS)

    1998-12-01

    Alleged mosasaur bite marks on Late Cretaceous ammonites are limpet (patellogastropod) home scars Geology, v. 26, p. 947 950 (October 1998) This article had the following printing errors: p. 947, Abstract, line 11, “sepia” should be “septa” p. 947, 1st paragraph under Introduction, line 2, “creep” should be “deep” p. 948, column 1, 2nd paragraph, line 7, “creep” should be “deep” p. 949, column 1, 1st paragraph, line 1, “creep” should be “deep” p. 949, column 1, 1st paragraph, line 5, “19774” should be “1977)” p. 949, column 1, 4th paragraph, line 7, “in particular” should be “In particular” CORRECTION Mammalian community response to the latest Paleocene thermal maximum: An isotaphonomic study in the northern Bighorn Basin, Wyoming Geology, v. 26, p. 1011 1014 (November 1998) An error appeared in the References Cited. The correct reference appears below: Fricke, H. C., Clyde, W. C., O'Neil, J. R., and Gingerich, P. D., 1998, Evidence for rapid climate change in North America during the latest Paleocene thermal maximum: Oxygen isotope compositions of biogenic phosphate from the Bighorn Basin (Wyoming): Earth and Planetary Science Letters, v. 160, p. 193 208.

  10. The Importance of Nomenclature for Congenital Heart Disease: Implications for Research and Evaluation

    PubMed Central

    Strickland, Matthew J; Riehle-Colarusso, Tiffany J; Jacobs, Jeffrey P; Reller, Mark D; Mahle, William T; Botto, Lorenzo D; Tolbert, Paige E; Jacobs, Marshall L; Lacour-Gayet, Francois G; Tchervenkov, Christo I; Mavroudis, Constantine; Correa, Adolfo

    2013-01-01

    Background Administrative databases are often used for congenital heart disease research and evaluation, with little validation of the accuracy of the diagnostic codes. Methods Metropolitan Atlanta Congenital Defects Program surveillance records were reviewed and classified using a version of the International Pediatric and Congenital Cardiac Code. Using this clinical nomenclature as the referent, we report the sensitivity and false positive fraction (1 – positive predictive value) of the International Classification of Diseases, Ninth Revision, Clinical Modification diagnosis codes for tetralogy of Fallot, transposition of the great arteries, and hypoplastic left heart syndrome. Results We identified 4918 infants and foetuses with congenital heart disease from the surveillance records. Using only the International Classification of Diseases diagnosis codes, there were 280 records with tetralogy, 317 records with transposition, and 192 records with hypoplastic left heart syndrome. Based on the International Pediatric and Congenital Cardiac Code, 330 records were classified as tetralogy, 163 records as transposition, and 179 records as hypoplastic left heart syndrome. The sensitivity of International Classification of Diseases diagnosis codes was 83% for tetralogy, 100% for transposition, and 95% for hypoplastic left heart syndrome. The false positive fraction was 2% for tetralogy, 49% for transposition, and 11% for hypoplastic left heart syndrome. Conclusions Analyses based on International Classification of Diseases diagnosis codes may have substantial misclassification of congenital heart disease. Isolating the major defect is difficult, and certain codes do not differentiate between variants that are clinically and developmentally different. PMID:19063779

  11. 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.

    PubMed

    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.

  12. Use of an administrative database to determine clinical management and outcomes in congenital heart disease.

    PubMed

    Gutgesell, Howard P; Hillman, Diane G; McHugh, Kimberly E; Dean, Peter; Matherne, G Paul

    2011-10-01

    We review our 16-year experience using the large, multi-institutional database of the University HealthSystem Consortium to study management and outcomes in congenital heart surgery for hypoplastic left heart syndrome, transposition of the great arteries, and neonatal coarctation. The advantages, limitations, and use of administrative databases by others to study congenital heart surgery are reviewed.

  13. Children with transposition of the great arteries: Should they actually be born in Nigeria?

    PubMed Central

    Animasahun, Barakat Adeola; Madise-Wobo, Akpoembele Deborah; Gbelee, Henry Olusegun; Omokhodion, Samuel Ilenre

    2017-01-01

    AIM To describe the clinical and echocardiographic features of Nigerian children with transposition of the great arteries and emphasize the need for collaboration with cardiac centres in the developed countries to be able to salvage the children. METHODS Prospective and cross sectional involving consecutive patients diagnosed with transposition of the great arteries using clinical evaluation and echocardiography at the Paediatric Department of Lagos State University Teaching Hospital, Lagos Nigeria as part of a large study between January 2007 and December 2015. RESULTS There were 51 cases of transposition of the great arteries within the study period with a male to female ratio of 2:1 and a prevalence of 1.55 per 10000 among population of children who presented to centre during the study. Its proportion amongst children with congenital heart disease was 4.9%, while it was 15.4% among those with cyanotic congenital heart disease. The mean age ± SD of the subjects was 10.3 ± 21.8 mo. Up to 70% of the patients were less than 6 mo of age at initial presentation. The most common mode of presentation was cyanosis. The most common associated intracardiac anomaly was ventricular septal defect which occurred in 56% of the patients. CONCLUSION Transposition of the great arteries is as common in Nigeria as in the other parts of the world. The most common mode of presentation was cyanosis. There is an urgent need to establish paediatric cardiac centres in Nigeria if these children are to be salvaged. PMID:28400925

  14. Facial expression recognition and emotion understanding in children after neonatal open-heart surgery for transposition of the great arteries.

    PubMed

    Calderon, Johanna; Angeard, Nathalie; Pinabiaux, Charlotte; Bonnet, Damien; Jambaqué, Isabelle

    2014-06-01

    Theory of mind impairments are part of the cognitive morbidities associated with transposition of the great arteries (TGA). We sought to assess core components of social cognition in school-aged children with TGA. Thirty-eight children with neonatal corrected TGA (27 males, 11 females; mean age 7y 3mo, SD 1y 2mo) and a comparison group (n=31; 24 males, 7 females; mean age 7y 4mo, SD 1y 1mo) participated in this study. All children completed measures of facial expression recognition, emotion comprehension, and second-order cognitive and affective false-belief tasks. The association of medical pre-, intra-, and postoperative variables with cognitive outcomes was explored. After controlling for potential covariates, children with TGA performed significantly less accurately in the mental category of the emotion comprehension battery (p=0.002) and on second-order affective false-belief tasks (p<0.05). Preoperative variables including an associated ventricular septal defect (p=0.02), a younger age at open-heart surgery (p=0.03), and a prenatal diagnosis of TGA (p=0.02) were significantly associated with better outcomes. School-aged children with TGA display significant impairment on complex affective mental state understanding even though facial expression recognition was generally preserved. Preoperative factors may be important determinants for long-term outcomes after cyanotic congenital heart disease. © 2014 Mac Keith Press.

  15. Transposition of the Great Arteries in Fetal Life: Accuracy of Diagnosis and Short-Term Outcome.

    PubMed

    Domínguez-Manzano, Paula; Mendoza, Alberto; Herraiz, Ignacio; Escribano, David; Román, Violeta; Aguilar, Juan Miguel; Galindo, Alberto

    2016-01-01

    To review our series of prenatally diagnosed transposition of the great arteries (TGA) to analyze the accuracy of fetal echocardiography for achieving a precise diagnosis of the TGA type (simple vs. complex) and to examine the short-term outcome. A total of 94 cases of simple and complex TGA types (ventriculoarterial discordance with atrioventricular concordance) prenatally evaluated in our referral center between 1998 and 2014 were included. Fetuses with additional congenital anomalies and those with incomplete follow-up were excluded. Prenatal diagnostic accuracy and short-term survival were analyzed for the different types of TGA. The TGA type was correctly ascertained prenatally in 93.3%. Most fetuses were diagnosed with simple TGA (62.7%). There were 6 discrepancies: 5 fetuses with simple TGA had postnatally TGA + ventricular septal defect (VSD; n = 3) or TGA + VSD + coarctation of the aorta (n = 2), and 1 fetus with TGA + VSD postnatally showed severe left ventricular outflow tract obstruction. The mortality rate was 6.6%; it was higher in complex versus simple forms (12.8 vs. 1.9%, p = 0.038), and in cases with intramural coronary artery versus those without (60 vs. 3.5%, p < 0.001). We found no relationship between the arrangement of the great arteries and coronary arterial abnormalities. Simple TGA has a better outcome than the complex forms. A discrepancy rate of 7% with potential influence on the prognosis of survival between the prenatal diagnosis of the TGA type and the definitive diagnosis was found. © 2016 S. Karger AG, Basel.

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

    PubMed

    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.

  17. Inferior Rectus Transposition: A Novel Procedure for Abducens Palsy.

    PubMed

    Velez, Federico G; Chang, Melinda Y; Pineles, Stacy L

    2017-05-01

    Superior rectus transposition has been popularized for the treatment of abduction deficiencies. Potential complications include induced vertical deviation and torsion. A new procedure, the inferior rectus transposition (IRT), may be similarly beneficial for patients at risk for postoperative vertical deviation or incyclotropia. The purpose of this study is to describe the outcomes of patients undergoing IRT. Prospective, interventional case series. Five patients in an academic pediatric ophthalmology and strabismus practice with a complete lateral rectus palsy who underwent IRT were studied. Changes in anomalous head posture, ocular rotations, ocular alignment, and torsion preoperatively to postoperatively were compared. The patients ranged in age from 19-89 years. There was a significant correction in the angle of esotropia (ET) from 39±17Δ (14-55Δ) to 12 ± 9.8Δ (0-22Δ) postoperatively (P = .02). Two of 5 patients had preoperative hypertropia of the affected eye (1.4 ± 2.2Δ; range, 2-5Δ). One of those had no vertical deviation postoperatively and 1 patient resulted in 2Δ hypotropia. One patient without vertical misalignment preoperatively developed a small postoperative vertical deviation. Torticollis significantly improved from 31.4 ± 11.6° to 5 ± 5.8° (P = .004). All patients improved abduction, with a mean of -4.4 ± 0.5 preoperatively to -3.4 ± 0.9 postoperatively (P = .07). Initial postoperative follow-up in patients with abducens palsy undergoing IRT shows a significant improvement in ocular alignment and torticollis. In patients with preoperative hypertropia, IRT resulted in a downward shifting effect on the operated eye. IRT may be a beneficial procedure for patients with preoperative hypertropia or intorsion requiring transposition procedures. Future studies with larger populations and longer durations of follow-up will be required before this procedure can be recommended. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Transposition of teeth: A forensic perspective

    PubMed Central

    Nambiar, Supriya; Mogra, Subraya; Shetty, Surendra

    2014-01-01

    Dental identification plays a key role in mass casualties and is usually based on disturbances of tooth eruption, malocclusions and/or previous dental treatments, changes brought about by age, pathological conditions and developmental disturbances. Tooth transposition is a disturbance of tooth eruption and is defined as change in the position of two adjacent teeth within the same quadrant. This review aims to discuss the prevalence and the etiology of transposition through a literature survey and to discuss its importance and implications as pertaining to the field of forensics. In summary, transposition is a rare and severe positional anomaly that represents a challenge for a dentist. It requires a keen eye on the part of the forensic pathologist to identify the condition. PMID:25177135

  19. Permanent magnet machine with windings having strand transposition

    DOEpatents

    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.

  20. Sports participation in adults with congenital heart disease.

    PubMed

    Opić, Petra; Utens, Elisabeth M W J; Cuypers, Judith A A E; Witsenburg, Maarten; van den Bosch, Annemien; van Domburg, Ron; Bogers, Ad J J C; Boersma, Eric; Pelliccia, Antonio; Roos-Hesselink, Jolien W

    2015-01-01

    It is unclear whether sports participation in adults with repaired congenital heart disease is safe and has benefits. Congenital heart disease (ConHD) patients who underwent corrective surgery for Atrial Septal Defect, Ventricular Septal Defect, Pulmonary Stenosis, Tetralogy of Fallot or Transposition of the Great Arteries in our center between 1968 and 1980 were included, and participated in our longitudinal follow-up study with serial evaluations in 2001 and 2011. At both time points patients filled in questionnaires on sports participation, subjective physical functioning and quality of life. Exercise testing, echocardiogram and 24-hour continuous ambulatory ECG-monitoring were performed in both 2001 and 2011. All clinical events (re-intervention, arrhythmia, heart failure) were prospectively recorded. No relationship was found between practicing sports and the occurrence of sudden death, PVCs or SVTs. Patients with moderate/complex forms of ConHD practiced fewer hours of sports compared with the general Dutch normative population. Patients with both simple and moderate/complex ConHD who practiced sports showed a higher exercise capacity. More favorable subjective physical functioning was found for moderate/complex patients who practiced sports. Adults with repaired ConHD are less often involved in sports than the Dutch general population. The patients that were engaged in sports show a higher exercise capacity than those who did not. Sports participation in patients with ConHD was not associated with an increased incidence of adverse cardiac events. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  1. Omental transposition for low pelvic anastomoses.

    PubMed

    Topor, B; Acland, R D; Kolodko, V; Galandiuk, S

    2001-11-01

    Surgeons' opinions differ regarding the role of the omentum in low pelvic intestinal anastomoses. This study was undertaken to define the anatomy and surgical technique of omental transposition to the pelvis. We studied 45 cadavers to elucidate surgical aspects of omental mobilization, lengthening, and transposition into the pelvic cavity. In addition, intraoperative studies of omental transposition to the pelvis were performed in 20 patients with chronic ulcerative colitis, familial adenomatous polyposis, and rectal cancer who were undergoing ileal J-pouch anal anastomosis or low anterior resection. The most important anatomic variables for omental transposition are three variants of arterial blood supply: (1) In 56% of patients, there is one right, one (or two) middle, and one left omental artery. (2) In 26% of patients, the middle omental artery is absent. (3) In the remaining 18% of patients, the gastroepiploic artery is continued as a left omental artery but with various smaller connections to the right or middle omental artery. The first stage of omental lengthening is detachment of the omentum from the transverse colon mesentery. This must be performed carefully, as the omentum is closely adherent to the right transverse mesocolon. The second stage is the actual lengthening of the omentum. The third stage is placement of the omental flap into the pelvis. Creation of an omental pedicle is a simple surgical procedure. This procedure can be performed quickly, does not involve significant blood loss, and may reduce the frequency of complications after low pelvic anastomoses.

  2. Gender-transposition theory and homosexual genesis.

    PubMed

    Money, J

    1984-01-01

    The genesis of homosexuality, and therefore of heterosexuality also, has traditionally been argued as either wholly biological or wholly social-environmental. The theory of gender transposition integrates findings regarding both prenatal hormonal programming of the sexual brain, and postnatal social programming.

  3. Optimal realization of the transposition maps

    NASA Astrophysics Data System (ADS)

    Buscemi, F.; D'Ariano, G. M.; Perinotti, P.; Sacchi, M. F.

    2003-08-01

    We solve the problem of achieving the optimal physical approximation of the transposition for pure states of arbitrary quantum systems for finite and infinite dimensions. A unitary realization is also given for any finite dimension, which provides the optimal quantum cloning map of the ancilla as well.

  4. Complete transposition of the great arteries with double outlet right ventricle in a dog.

    PubMed

    Koo, S T; LeBlanc, N L; Scollan, K F; Sisson, D D

    2016-06-01

    A 2-year old intact male Collie dog presented to the cardiology service at Oregon State University for evaluation of cyanosis and suspected congenital cardiac disease. Echocardiography revealed a constellation of cardiac abnormalities including a single large vessel exiting the right ventricle with a diminutive left ventricular outflow tract, a ventricular septal defect, and marked concentric right ventricular hypertrophy with moderate right atrial dilation. Cardiac-gated computed tomography confirmed the previous anomalies in addition to supporting a diagnosis of complete transposition of the great arteries, double outlet right ventricle, and pulmonic hypoplasia with a single coronary ostium. Prominent bronchoesophageal collateral vessels were concurrently identified. Clinically, the dog was stable despite mild cyanosis that worsened with exercise; no intervention was elected at the time. This case report describes a rare combination of congenital cardiac defects and the usefulness of cardiac-gated cross-sectional imaging in the anatomic diagnosis.

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

    PubMed

    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.

  6. Managing Heart Failure in Transposition of the Great Arteries

    PubMed Central

    Shah, Sangeeta; Gupta, Tripti; Ahmad, Raza

    2015-01-01

    Background Transposition of the great arteries (TGA) is a congenital heart defect that is associated with congestive heart failure, tricuspid regurgitation, and arrhythmias. Methods This review identifies and critiques the existing methods of assessing and managing TGA with a focus on right ventricular function. Results Echocardiography with novel strain methods and cardiac magnetic resonance imaging (MRI) are noninvasive imaging options, with cardiac MRI being the gold standard. Cardiopulmonary stress testing can be used to determine the severity of symptoms. For the medical management of right ventricular dysfunction in TGA, a closely monitored dosage of beta blockers and the concomitant use of diuretics for symptomatic relief have the strongest supporting data. Surgical options for patients with TGA include the insertion of a pacemaker to treat arrhythmias, which are more common in this population, or tricuspid valve replacement to alleviate systemic tricuspid regurgitation. If symptoms in a patient with TGA are not alleviated by these management techniques, more advanced options include the use of an Impella device (Abiomed), the insertion of ventricular assist devices, or orthotopic heart transplant. Conclusion Physicians managing patients with TGA should take a multidisciplinary specialist approach to decide which route to pursue (medical or surgical) and when more advanced treatment options are necessary. PMID:26413006

  7. Congenital Atrichia Associated with Situs Inversus and Mesocardia

    PubMed Central

    Sacchidanand, S; Sahana, MS; Hiremagalore, Ravi; Asha, GS

    2012-01-01

    Congenital alopecia includes a broad differential diagnosis and presents a diagnostic and therapeutic challenge for the physician. Congenital atrichia is a rare form of irreversible alopecia that is usually inherited as an autosomal recessive pattern. We report a 2-year-old male child presenting with total alopecia of scalp, eyebrows, eyelashes, and body hair since birth. The child had cardiac malposition with situs inversus of the viscera. Computed tomography of the chest and abdomen revealed median position of the heart with transposition of abdominal viscera. To our knowledge, this is the first case of congenital atrichia associated with situs inversus and mesocardia. PMID:23180933

  8. Renal transplantation with iliac vein transposition.

    PubMed

    Molmenti, E P; Varkarakis, I M; Pinto, P; Tiburi, M F; Bluebond-Langner, R; Komotar, R; Montgomery, R A; Jarrett, T; Kavoussi, L R; Ratner, L E

    2004-11-01

    We evaluated a technique for implantation of right kidneys with short renal veins without the need for venous reconstruction. The technique of iliac vein transposition was performed in six recipients who received right kidneys with short renal veins. Two cases were living related donors, two were living unrelated, one was an autotransplant, and one was a cadaver kidney recipient. The common and external iliac veins and arteries of the recipient were thoroughly mobilized, allowing for the lateral transposition of the external iliac vein with respect to the external iliac artery. The renal vessels were subsequently implanted in an end to side fashion onto the corresponding transposed external iliac vessels. After implantation, the iliac vein remained lateral with respect to the iliac artery. The technique described allows for the implantation of right kidneys without the need for venous reconstruction. Such an approach is especially useful in cases of grafts with short veins.

  9. Surgical transposition of the ovary: Radiologic appearance

    SciTech Connect

    Bashist, B.; Friedman, W.N.; Killackey, M.A. )

    1989-12-01

    Therapeutic irradiation of the pelvis of a young female patient will result in loss of ovarian function. In a surgical technique termed ovarian transposition, the ovary is repositioned to the iliac fossa or paracolic gutter outside the radiation field. The computed tomographic (CT) scans and sonograms of five patients with cervical carcinoma who underwent this procedure were reviewed. The normal transposed ovary was of soft-tissue attenuation, often with one or more small cysts. Large cysts developed in the ovaries of three patients. One cyst was functional, another was due to a mesothelial inclusion cyst, and the third was most probably related to the transposition itself. Since the transposed ovary is difficult to palpate, CT or sonography can be used to demonstrate and follow up a cystic mass. Recognition of the appearance and location of the transposed ovary is important to avoid misinterpretation of a solid or cystic mass in patients who are at risk for tumor recurrence.

  10. Transpositional flap technique for mandibular vestibuloplasty.

    PubMed

    Wessberg, G A; Hill, S C; Epker, B N

    1979-06-01

    Various surgical techniques for a mandibular vestibuloplasty have been advocated. A transpositional labial flap technique used by us for 23 patients since May 1976, and based on a procedure described by Edlan, has been presented with results of nine-month follow-up examinations of six patients. Clinical, radiographic, and histological evaluations completed at three-month intervals showed that this transpositional vestibuloplasty compared favorably with other similar techniques in postoperative time of healing, condition of attached mucosa, stability of increased vestibular depth, and amount of resorption of labial bone. Advantages of this procedure over other mandibular vestibuloplasty techniques are its simplicity, low morbidity, decreased operating time, feasibility of use of local anesthesia and conscious sedation on an outpatient basis, and elimination of the need for a graft. The disadvantage of the procedure is that it requires healthy preexisting vestibular mucosa for optimal results.

  11. Class of positive partial transposition states

    SciTech Connect

    Chruscinski, Dariusz; Kossakowski, Andrzej

    2006-08-15

    We construct a class of quantum bipartite d(multiply-in-circle sign)d states which are positive under partial transposition (PPT states). This class is invariant under the maximal commutative subgroup of U(d) and contains as special cases many well-known examples of PPT states. States from our class provide criteria for testing the indecomposability of positive maps. Such maps are crucial for constructing entanglement witnesses.

  12. Uterine transposition: technique and a case report.

    PubMed

    Ribeiro, Reitan; Rebolho, Juliano Camargo; Tsumanuma, Fernanda Keiko; Brandalize, Giovana Gugelmin; Trippia, Carlos Henrique; Saab, Karam Abou

    2017-08-01

    To report the first uterine transposition for fertility preservation in a patient with rectal cancer. Case report. Community hospital. A 26-year-old patient with stage cT3N1M0 rectal adenocarcinoma located 5 cm from the anal margin. Laparoscopic transposition of the uterus to the upper abdomen, outside of the scope of radiation, was performed to preserve fertility. After the end of radiotherapy, rectosigmoidectomy was performed and the uterus was repositioned into the pelvis. Uterine and ovarian function preservation. The patient had two menstrual periods and exhibited normal variation in ovarian hormones throughout the course of neoadjuvant therapy. Menstruation began 2 weeks after reimplantation into the pelvis, and the cervix exhibited a normal appearance on clinical examination after 6 weeks. Eighteen months after the surgery, the uterus was normal and there was no sign of disease. Uterine transposition might represent a valid option for fertility preservation in women who require pelvic radiotherapy and want to bear children. However, studies that assess its viability, effectiveness, and safety are required. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  13. Target Capture during Mos1 Transposition*

    PubMed Central

    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

  14. Retroviral DNA Transposition: Themes and Variations

    PubMed Central

    Skalka, Anna Marie

    2015-01-01

    SUMMARY Retroviruses and LTR retrotransposons are transposable elements that encapsidate the RNAs that are intermediates in the transposition of DNA copies of their genomes (proviruses), from one cell (or one locus) to another. Mechanistic similarities in DNA transposase enzymes and retroviral/retrotransposon integrases underscore the close evolutionary relationship among these elements. The retroviruses are very ancient infectious agents, presumed to have evolved from Ty3/Gypsy LTR retrotransposons (1), and DNA copies of their sequences can be found embedded in the genomes of most, if not all, members of the tree of life. All retroviruses share a specific gene arrangement and similar replication strategies. However, given their ancestries and occupation of diverse evolutionary niches, it should not be surprising that unique sequences have been acquired in some retroviral genomes and that the details of the mechanism by which their transposition is accomplished can vary. While every step in the retrovirus lifecycle is, in some sense, relevant to transposition, this Chapter focuses mainly on the early phase of retroviral replication, during which viral DNA is synthesized and integrated into its host genome. Some of the initial studies that set the stage for current understanding are highlighted, as well as more recent findings obtained through use of an ever-expanding technological toolbox including genomics, proteomics, and siRNA screening. Persistence in the area of structural biology has provided new insight into conserved mechanisms as well as variations in detail among retroviruses, which can also be instructive. PMID:25844274

  15. Congenital heart defect - corrective surgery

    MedlinePlus

    ... repair; Tetralogy of Fallot repair; Coarctation of the aorta repair; Atrial septal defect repair; Ventricular septal defect ... the pulmonary valve and removing the thickened muscle (stenosis). Placing a patch on the right ventricle and ...

  16. Understanding speech in noise after correction of congenital unilateral aural atresia: effects of age in the emergence of binaural squelch but not in use of head-shadow.

    PubMed

    Gray, Lincoln; Kesser, Bradley; Cole, Erika

    2009-09-01

    Unilateral hearing loss causes difficulty hearing in noise (the "cocktail party effect") due to absence of redundancy, head-shadow, and binaural squelch. This study explores the emergence of the head-shadow and binaural squelch effects in children with unilateral congenital aural atresia undergoing surgery to correct their hearing deficit. Adding patients and data from a similar study previously published, we also evaluate covariates such as the age of the patient, surgical outcome, and complexity of the task that might predict the extent of binaural benefit--patients' ability to "use" their new ear--when understanding speech in noise. Patients with unilateral congenital aural atresia were tested for their ability to understand speech in noise before and again 1 month after surgery to repair their atresia. In a sound-attenuating booth participants faced a speaker that produced speech signals with noise 90 degrees to the side of the normal (non-atretic) ear and again to the side of the atretic ear. The Hearing in Noise Test (HINT for adults or HINT-C for children) was used to estimate the patients' speech reception thresholds. The speech-in-noise test (SPIN) or the Pediatric Speech Intelligibility (PSI) Test was used in the previous study. There was consistent improvement, averaging 5dB regardless of age, in the ability to take advantage of head-shadow in understanding speech with noise to the side of the non-atretic (normal) ear. There was, in contrast, a strong negative linear effect of age (r(2)=.78, selecting patients over 8 years) in the emergence of binaural squelch to understand speech with noise to the side of the atretic ear. In patients over 8 years, this trend replicated over different studies and different tests. Children less than 8 years, however, showed less improvement in the HINT-C than in the PSI after surgery with noise toward their atretic ear (effect size=3). No binaural result was correlated with degree of hearing improvement after surgery. All

  17. Congenital Hypothyroidism

    MedlinePlus

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Pediatric Endocrine Society MedlinePlus (NIH) What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  18. Congenital Hypothyroidism

    MedlinePlus

    ... 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 ...

  19. Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells.

    PubMed

    Kauppinen, R; Glass, I A; Aizencang, G; Astrin, K H; Atweh, G F; Desnick, R J

    1998-09-01

    Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder resulting from the deficient activity of the heme biosynthetic enzyme uroporphyrinogen III synthase (UROS). Severely affected patients are transfusion dependent and have mutilating cutaneous manifestations. Successful bone marrow transplantation has proven curative, providing the rationale for stem cell gene therapy. Toward this goal, two retroviral MFG vectors containing the UROS cDNA were constructed, one with the wild-type sequence (MFG-UROS-wt) and a second with an optimized Kozak consensus sequence (MFG-UROS-K). Following transduction of CEP fibroblasts, the MFG-UROS-wt and MFG-UROS-K vectors increased the endogenous activity without selection to levels that were 18- and 5-fold greater, respectively, than the mean activity in normal fibroblasts. Notably, the MFG-UROS-wt vector expressed UROS activity in CEP fibroblasts at these high levels for over 6 months without cell toxicity. Addition of either delta-aminolevulinic acid (ALA) or ferric chloride did not affect expression of the transduced UROS gene nor did the increased concentrations of uroporphyrin isomers or porphyrin intermediates affect cell viability. Similarly, transduction of CEP lymphoblasts with the MFG-UROS-wt vector without G418 selection increased the endogenous UROS activity by 7-fold or almost 2-fold greater than that in normal lymphoblasts. Transduction of K562 erythroleukemia cells by cocultivation with the MFG-UROS-wt producer cells increased their high endogenous UROS activity by 1.6-fold without selection. Clonally isolated K562 cells expressed UROS for over 4 months at mean levels 4.7-fold greater than the endogenous activity without cell toxicity. Thus, the prolonged, high-level expression of UROS in transduced CEP fibroblasts and lymphoblasts, as well as in transduced K562 erythroid cells, demonstrated that the enzymatic defect in CEP cells could be corrected by retroviral-mediated gene therapy without

  20. Transposition with atypical coronary pattern: the Aubert technique.

    PubMed

    Pita-Fernández, Ana; González-López, María T; Gil-Jaurena, Juan M

    2017-03-06

    The arterial switch operation is currently the gold standard technique for repair of transposition of the great arteries. Some atypical coronary patterns such as intramural, interarterial, and a unique posterior button are associated with more complexity and surgical risk. We report a successful Aubert operation for transposition of the great arteries associated with a single and interarterial coronary artery arising from a posterior sinus.

  1. Pig transgenesis by Sleeping Beauty DNA transposition.

    PubMed

    Jakobsen, Jannik E; Li, Juan; Kragh, Peter M; Moldt, Brian; Lin, Lin; Liu, Ying; Schmidt, Mette; Winther, Kjeld Dahl; Schyth, Brian Dall; Holm, Ida E; Vajta, Gábor; Bolund, Lars; Callesen, Henrik; Jørgensen, Arne Lund; Nielsen, Anders Lade; Mikkelsen, Jacob Giehm

    2011-06-01

    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 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 transposon vectors carrying the transgene driven by the human ubiquitin C promoter. These animals carry multiple copies (from 8 to 13) of the transgene and show systemic transgene expression. Transgene-expressing pigs carry both transposase-catalyzed insertions and at least one copy of randomly inserted 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 using the Sleeping Beauty gene insertion technology.

  2. Sleeping Beauty transposition: from biology to applications.

    PubMed

    Narayanavari, Suneel A; Chilkunda, Shreevathsa S; Ivics, Zoltán; Izsvák, Zsuzsanna

    2017-02-01

    Sleeping Beauty (SB) is the first synthetic DNA transposon that was shown to be active in a wide variety of species. Here, we review studies from the last two decades addressing both basic biology and applications of this transposon. We discuss how host-transposon interaction modulates transposition at different steps of the transposition reaction. We also discuss how the transposon was translated for gene delivery and gene discovery purposes. We critically review the system in clinical, pre-clinical and non-clinical settings as a non-viral gene delivery tool in comparison with viral technologies. We also discuss emerging SB-based hybrid vectors aimed at combining the attractive safety features of the transposon with effective viral delivery. The success of the SB-based technology can be fundamentally attributed to being able to insert fairly randomly into genomic regions that allow stable long-term expression of the delivered transgene cassette. SB has emerged as an efficient and economical toolkit for safe and efficient gene delivery for medical applications.

  3. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-09-01

    Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed.

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

    PubMed Central

    Eraslan, Muhsin; Cerman, Eren; Onal, Sumru; Ogut, Mehdi Suha

    2015-01-01

    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. PMID:26640703

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

    PubMed Central

    Noites, Rita Brandão; Martins, Miguel André Duarte; Paulo, Manuel Pedro da Fonseca

    2016-01-01

    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. PMID:27200284

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

    PubMed

    Cardoso, Miguel Agostinho Beco Pinto; Noites, Rita Brandão; Martins, Miguel André Duarte; Paulo, Manuel Pedro da Fonseca

    2016-05-01

    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.

  7. Congenital tracheobronchial stenosis.

    PubMed

    Hewitt, Richard J; Butler, Colin R; Maughan, Elizabeth F; Elliott, Martin J

    2016-06-01

    Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes high levels of morbidity and mortality both due to the stenosis itself and to the high incidence of other associated congenital malformations. Successful management of this complex condition requires a highly individualized approach delivered by an experienced multidisciplinary team, which is best delivered within centralized units with the necessary diverse expertise. In such settings, surgical correction by slide tracheoplasty has become increasingly successful over the past 2 decades such that long-term survival now exceeds 88%, with normalization of quality of life scores for patients with non-syndrome-associated congenital tracheal stenosis. Careful assessment and planning of treatment strategies is of paramount importance for both successful management and the provision of patients and carers with accurate and realistic treatment counseling. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Radio-frequency ablation of arrhythmias following congenital heart surgery.

    PubMed

    Kalarus, Zbigniew; Kowalski, Oskar; Lenarczyk, Radosław; Pruszkowska-Skrzep, Patrycja; Pluta, Sławomir; Zeifert, Bozena; Chodór, Beata; Białkowski, Jacek; Skalski, Janusz; Zembala, Marian

    2006-12-01

    Cardiac arrhythmias as a late complication following congenital heart surgery are encountered more and more frequently in clinical practice. The use of new electrophysiological methods of visualisation and mapping improves the efficacy of radio-frequency (RF) ablation of these arrhythmias. To assess patterns of atrial arrhythmias following congenital heart surgery and to examine the efficacy of RF ablation using the electro-anatomical CARTO system. Electrophysiological diagnostic study and RF ablation were performed in 24 consecutive patients (mean age 36+/-18 years) who had atrial arrhythmias following congenital heart surgery. The mechanism of arrhythmia (ectopic or reentrant) and strategy of RF ablation procedure were based on the results of the right atrial map performed during index arrhythmia. The patients were divided into five groups according to the type of congenital heart surgery. The ASD group consisted of 17 patients who had undergone in the past surgery due to atrial septal defect, four patients had a history of surgery due to ventricular septal defect (VSD group), and one patient each had undergone surgery due to corrected transposition of the great arteries (ccTGA), tetralogy of Fallot (TF) or dual-outflow right ventricle (DORV). During diagnostic electrophysiological study typical atrial flutter (AFL) was diagnosed in nine patients from the ASD group, atypical AFL in three ASD patients, and ectopic atrial tachycardia (EAT) in six ASD patients. In one patient EAT was induced after ablation of typical AFL. Of the VSD patients, three had atypical AFL, and one had typical AFL. The patient following surgery for ccTGA had atypical AFL and EAT, whereas in the two remaining patients (DORV and TF) atypical AFL was demonstrated. The efficacy of the first session of RF ablation was 83% and no complications were observed. The efficacy of RF ablation of typical AFL was 90%, atypical AFL 78%, and EAT 86% (NS). During the long-term follow-up (24+/-17 months

  9. Congenital symmastia revisited.

    PubMed

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans E; Bonde, Christian

    2012-12-01

    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. Congenital symmastia was identified as a distinct deformation using a review of the literature and a theoretical model. We analysed the malady using a three-step principle, formulated by Blondeel, which describes the breast as a 'footprint', 'conus' and 'skin-envelope'. To date, few papers on congenital symmastia have been published, most of which focus on the application of various surgical approaches. We examined the literature and evaluated the procedures used, and are presenting two recent cases of congenital symmastia as examples. By combining review and analysis we offer a rational treatment practice. The analysis showed that the optimal treatment begins by correcting the 'footprint', removing the excess 'conus' over the sternum, and finally reattaching the 'skin-envelope' to the sternum to recreate the normal medial border of the 'footprint'. Thus far, the two most common approaches used to treat congenital symmastia are: reduction mammaplasty and liposuction. By combining the Blondeel analysis with a procedural review, we developed a flow chart to offer a possible treatment practice. Copyright © 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  10. Endoscopically Assisted Anterior Subcutaneous Transposition of Ulnar Nerve.

    PubMed

    Lui, Tun Hing

    2016-06-01

    Ulnar nerve compression at the elbow is the most common neuropathy of the upper extremity. Surgical options include in situ decompression, decompression with anterior transposition of the ulnar nerve, and medial epicondylectomy with or without decompression. With the advancement of endoscopic surgery, techniques of endoscopic in situ decompression of the ulnar nerve and endoscopic anterior transposition of ulnar nerve have been reported. This article describes a technique of endoscopically assisted anterior subcutaneous transposition of ulnar nerve that is composed of an open release and mobilization of the ulnar nerve at and distal to the cubital tunnel and endoscopic release and mobilization of the ulnar nerve proximal to the cubital tunnel.

  11. Lateralization Technique and Inferior Alveolar Nerve Transposition

    PubMed Central

    Sanches, Marco Antonio; Ramalho, Gabriel Cardoso; Manzi, Marcello Roberto

    2016-01-01

    Bone resorption of the posterior mandible can result in diminished bone edge and, therefore, the installation of implants in these regions becomes a challenge, especially in the presence of the mandibular canal and its contents, the inferior alveolar nerve. Several treatment alternatives are suggested: the use of short implants, guided bone regeneration, appositional bone grafting, distraction osteogenesis, inclined implants tangential to the mandibular canal, and the lateralization of the inferior alveolar nerve. The aim was to elucidate the success rate of implants in the lateralization technique and in inferior alveolar nerve transposition and to determine the most effective sensory test. We conclude that the success rate is linked to the possibility of installing implants with long bicortical anchor which favors primary stability and biomechanics. PMID:27433360

  12. [Penile congenital abnormalities].

    PubMed

    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.

  13. [Anesthesiologic management of cesarean section in a patient with transposition of the great vessels].

    PubMed

    Alon, E; Baumann, H

    1988-01-01

    The maternal mortality associated with cesarean section in the presence of congenital cyanotic heart disease is high. We report the anesthetic management of a 26-year-old pregnant patient with transposition of the great vessels and a functional single ventricle whose child was delivered by elective cesarean section under continuous epidural anesthesia. There were no hemodynamic problems and the outcome was successful for both mother and child, who could be discharged from the hospital on the 17th postoperative day. Elective cesarean section may be an acceptable method of delivery, and lumbar epidural block proved to be an appropriate procedure for this patient. The cooperation of cardiologists, anesthesiologists, and obstetricians was necessary to assure maternal and fetal survival. Continuous invasive hemodynamic monitoring and use of small epidural top-up doses (2-3 ml) of local anesthetic were of utmost importance in maintaining the hemodynamic stability.

  14. Klippel-Feil syndrome and levo-looped transposition of the great arteries.

    PubMed

    Martínez-Quintana, Efrén; Rodríguez-González, Fayna

    2015-03-01

    Klippel-Feil syndrome is a skeletal disorder characterised by low hairline and a short neck due to abnormal fusion of two or more cervical vertebrae. Although congenital heart and lung defects are infrequent, some abnormalities such as cor triatriatum, coarctation of the aorta, total anomalous pulmonary venous connection, or lung agenesis have been reported. The challenge of recognising Klippel-Feil syndrome lies in the fact that there is an association of this syndrome with other significant conditions such as skeletal, genitourinary, neurological, ear, and some cardiac defects. We report a Klippel-Feil syndrome type III 14-year-old patient with a levo-looped transposition of the great arteries. In addition, the patient had agenesis of the left upper-lung lobe.

  15. Transpositionally active episomal hAT elements

    PubMed Central

    2009-01-01

    Background hAT elements and V(D)J recombination may have evolved from a common ancestral transposable element system. Extrachromosomal, circular forms of transposable elements (referred to here as episomal forms) have been reported yet their biological significance remains unknown. V(D)J signal joints, which resemble episomal transposable elements, have been considered non-recombinogenic products of V(D)J recombination and a safe way to dispose of excised chromosomal sequences. V(D)J signal joints can, however, participate in recombination reactions and the purpose of this study was to determine if hobo and Hermes episomal elements are also recombinogenic. Results Up to 50% of hobo/Hermes episomes contained two intact, inverted-terminal repeats and 86% of these contained from 1-1000 bp of intercalary DNA. Episomal hobo/Hermes elements were recovered from Musca domestica (a natural host of Hermes), Drosophila melanogaster (a natural host of hobo) and transgenic Drosophila melanogaster and Aedes aegypti (with autonomous Hermes elements). Episomal Hermes elements were recovered from unfertilized eggs of M. domestica and D. melanogaster demonstrating their potential for extrachromosomal, maternal transmission. Reintegration of episomal Hermes elements was observed in vitro and in vivo and the presence of Hermes episomes resulted in lower rates of canonical Hermes transposition in vivo. Conclusion Episomal hobo/Hermes elements are common products of element excision and can be maternally transmitted. Episomal forms of Hermes are capable of integration and also of influencing the transposition of canonical elements suggesting biological roles for these extrachromosomal elements in element transmission and regulation. PMID:20003420

  16. Intermittent Cyanosis Years after a Mustard Repair for Dextro-Transposition of the Great Arteries

    PubMed Central

    Saraf, Anita; Franklin, Wayne J.; Snyder, Christopher S.; Fraser, Charles D.; Salazar, Jorge D.

    2012-01-01

    A 28-year-old woman, who as an infant had undergone the Mustard atrial switch procedure for dextro-transposition of the great arteries, presented with a baffle leak and consequent intermittent cyanosis. In addition, an occlusive thrombus had formed in the systemic venous baffle after a failed attempt to remove infected pacemaker leads. Corrective surgery was successful. In addition to the case of our patient, we discuss long-term sequelae of the atrial switch procedure that present challenges in patient care. PMID:23109763

  17. Intermittent cyanosis years after a Mustard repair for dextro-transposition of the great arteries.

    PubMed

    Saraf, Anita; Franklin, Wayne J; Snyder, Christopher S; Fraser, Charles D; Salazar, Jorge D

    2012-01-01

    A 28-year-old woman, who as an infant had undergone the Mustard atrial switch procedure for dextro-transposition of the great arteries, presented with a baffle leak and consequent intermittent cyanosis. In addition, an occlusive thrombus had formed in the systemic venous baffle after a failed attempt to remove infected pacemaker leads. Corrective surgery was successful. In addition to the case of our patient, we discuss long-term sequelae of the atrial switch procedure that present challenges in patient care.

  18. Transposition-mediated DNA re-replication in maize

    PubMed Central

    Zhang, Jianbo; Zuo, Tao; Wang, Dafang; Peterson, Thomas

    2014-01-01

    Every DNA segment in a eukaryotic genome normally replicates once and only once per cell cycle to maintain genome stability. We show here that this restriction can be bypassed through alternative transposition, a transposition reaction that utilizes the termini of two separate, nearby transposable elements (TEs). Our results suggest that alternative transposition during S phase can induce re-replication of the TEs and their flanking sequences. The DNA re-replication can spontaneously abort to generate double-strand breaks, which can be repaired to generate Composite Insertions composed of transposon termini flanking segmental duplications of various lengths. These results show how alternative transposition coupled with DNA replication and repair can significantly alter genome structure and may have contributed to rapid genome evolution in maize and possibly other eukaryotes. DOI: http://dx.doi.org/10.7554/eLife.03724.001 PMID:25406063

  19. Spatial transpositions across tasks and response modalities: exploring representational allochiria.

    PubMed

    Lepore, Michele; Conson, Massimiliano; Ferrigno, Adriana; Grossi, Dario; Trojano, Luigi

    2004-10-01

    We describe a neglect patient who showed systematic transpositions of left-sided items onto the right side in clock drawing. When the patient had to write single hours on blank clock dials he again showed allochiria, while he copied single spatial locations without transpositions. The patient also showed a variable number of spatial transpositions on imaginal tasks with well known and novel material acquired through visual modality and on controlled constructional tasks, independently from response modality (verbal, graphic or motor). From this basis, we argued that spatial transpositions may derive from an impairment of the mental representation of space. Moreover, we speculated that such errors may result from cognitive conflict between different sources of information.

  20. Transposition of the Greater Arteries (TGA)

    MedlinePlus

    ... Disease Tricuspid Valve Disease Cardiac Rhythm Disturbances Thoracic Aortic Aneurysm Pediatric and Congenital Heart Disease Heart abnormalities that are present at birth in children, as well as in adults Atrial Septal Defect Ventricular Septal ... Arteriosus Single Ventricle Defects Lung, Esophageal, and ...

  1. Universal platform for quantitative analysis of DNA transposition.

    PubMed

    Pajunen, Maria I; Rasila, Tiina S; Happonen, Lotta J; Lamberg, Arja; Haapa-Paananen, Saija; Kiljunen, Saija; Savilahti, Harri

    2010-11-26

    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. 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. The established universal papillation assay platform should be widely applicable to a variety of mobile elements. It can be used for mechanistic

  2. Pulmonary arterial hypertension associated with bronchopulmonary dysplasia and congenital heart disease in preterm infants. A case report of a preterm infant with recurrent pulmonary hypertension after corrective cardiac surgery and review of the literature.

    PubMed

    Muneuchi, Jun; Kuraoka, Ayako; Watanabe, Mamie; Ochiai, Yoshie; Joo, Kunitaka

    2015-01-01

    In preterm infants with congenital heart disease, concomitant bronchopulmonary dysplasia (BPD) is associated with relatively poor clinical outcomes because of the increased pulmonary vascular resistance and adverse effects of inflammation on the damaged lungs, even after surgery. We present herein a 1-year-old female who developed recurrent pulmonary arterial hypertension 6 months after closure of a ventricular septal defect. She was born at 26 weeks of gestation (birth weight, 470 g), and developed BPD requiring oxygen supplementation. Her systemic-to-pulmonary blood flow ratio was 2.1 preoperatively and 1.0 postoperatively, pulmonary arterial pressure was 61/15 (mean 39) mmHg preoperatively and 41/17 (mean 24) mmHg postoperatively, and pulmonary vascular resistance was 4.2 mmHg/L·minute·m(2) preoperatively and 3.6 mmHg/L·minute·m(2) postoperatively. At 1 year of age, echocardiography showed an increase in her estimated right ventricular pressure, indicating worsening pulmonary hypertension. After 3 years of treatment with oxygen supplementation, prostacyclin, and bosentan, her pulmonary arterial pressure improved to the normal range. The pathophysiology of pulmonary arterial hypertension is heterogeneous in preterm infants with congenital heart disease and concomitant BPD. Careful management of these patients is warranted even after corrective cardiac surgery.

  3. Tooth transposition: a descriptive study in a 547-patient sample.

    PubMed

    Bourzgui, Farid; Sebbar, Mourad; Ait Ikiss, Jamila; Hamza, Mouna; Abidine, Zouhair; El Quars, Farid

    2012-09-01

    The aim of this investigation was to study the prevalence of tooth transposition in a population of orthodontic patients. A total of 547 patient records from our dentofacial orthopedics department were consulted. Each file included clinical observations, panoramic radiography, lateral cephalograms and dental casts. Patients with incomplete or poorly kept orthodontic records were excluded from the sample, as were those with unreadable panoramic radiographs. The classification of tooth transpositions used in the study was that first proposed by S. Peck and L. Peck in 1995. Computerized statistical analysis was performed using Epi-Info 6.0. The prevalence of tooth transposition was 2%, with the female population more heavily affected (64%). Tooth transposition occurred only in the maxillary arch. Of all the teeth, the canines were the most involved in this anomaly (100%). Transposition was associated with tooth agenesis in 18% of cases, peg lateral incisors in 27%, and persistent deciduous teeth in 18%. The prevalence of tooth transposition in this study population remained low, but was nonetheless higher than that found in most published investigations. Copyright © 2012 CEO. Published by Elsevier Masson SAS. All rights reserved.

  4. Prevalence and determinants of anemia in adults with complex congenital heart disease and ventricular dysfunction (subaortic right ventricle and single ventricle physiology).

    PubMed

    Collins, Nicholas; Piran, Sanaz; Harrison, Jeanine; Azevedo, Eduardo; Oechslin, Erwin; Silversides, Candice K

    2008-09-01

    Anemia is well recognized as a marker of poor prognosis in patients with acquired heart disease and heart failure. Adults with complex congenital heart disease and ventricular dysfunction (subaortic right ventricle or single-ventricle physiology) represent a different population, because they are typically much younger and have less co-morbidity compared with patients with acquired forms of heart disease. The purpose of this study was to evaluate the prevalence and determinants of anemia in this population. Baseline hemoglobin levels were recorded at the time of the initial clinic visit, and final hemoglobin levels were those recorded before death or transplantation or at study completion. Anemia was defined as hemoglobin <135 g/L in men and <120 g/L in women. One hundred sixty-seven patients (100 men, mean age 34 +/- 8 years, mean ejection fraction 35 +/- 9%) were included, 66 with atrial switch operations, 42 with congenitally corrected transposition of the great arteries, and 59 with Fontan physiology. The mean hemoglobin level at baseline was 149 +/- 22 g/L and at follow-up was 139 +/- 29 g/L. The overall prevalence of anemia was 29% at completion. Hyponatremia, decreased renal function, and the use of warfarin were independent predictors of anemia. In conclusion, anemia is common in patients with complex congenital heart disease and ventricular dysfunction, in particular those with Fontan physiology.

  5. [Congenital thrombophilia].

    PubMed

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin.

  6. Congenital cytomegalovirus

    MedlinePlus

    ... Churchill Livingstone; 2014:chap 140. Swanson EC. Congenital cytomegalovirus infection: new prospects for prevention and therapy. Pediatr Clin ... and the A.D.A.M. Editorial team. Cytomegalovirus Infections Read more Latest Health News Read more Health ...

  7. Congenital cataract

    MedlinePlus

    ... Congenital and inherited cataracts. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott ... Cataracts and systemic disease. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott ...

  8. Congenital syphilis

    MedlinePlus

    Congenital lues; Fetal syphilis ... which is passed from mother to child during fetal development or at birth. Nearly half of all ... Saunders; 2014:chap 143. Duff P. Maternal and fetal infections. In: Creasy RK, Resnik R, Iams JD, ...

  9. Congenital Abnormalities

    MedlinePlus

    ... while you are pregnant. Combination of Genetic and Environmental Problems Some congenital abnormalities may occur if there is a genetic tendency for the condition combined with exposure to certain environmental influences within the womb during critical stages of ...

  10. [Congenital diarrhoea].

    PubMed

    Buda, Piotr; Friedman-Gruszczyńska, Joanna; Książyk, Janusz

    2011-01-01

    Congenital diarrhoea of heterogenic etiology is a rare cause of chronic diarrhoea. Characteristic features are: onset in the first weeks of life, life-threatening severe dehydratation and electrolyte disorders leading to a necessity of long-term parenteral nutrition. The clinical onset may be delayed and the degree of diarrhoea may be modest, making the diagnosis difficult. The main causes of congenital diarrhoea such as intestine electrolytes, carbohydrates, lipid and protein transport disorders and congenital enzymatic deficiencies, enterocyte polarization disorders, hormonal, immunological, metabolic, genetic and congenital anatomic disorders are presented in the paper. Some of them, such as: microvillus inclusion disease, tufting enteropathy, intestinal anedocrynosis, IPEX syndrome (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) have been described recently. One of the basic investigations, when congenital diarrhea is suspected, is general examination of the stool, its electrolyte concentration and serum electrolytes and blood gas analysis. Often, small bowel biopsy with histological examination (with the use of electronic microscopy and PAS staining) is indicated. In some cases molecular examination is possible and indicated. In differential diagnosis other, more frequent causes of chronic diarrhea of infancy, have to be excluded. In most of the cases of congenital diarrhoea there is no casual treatment available - usually long-term parenteral nutrition is necessary.

  11. Energy transfer ratio as a metric of right ventricular efficiency in repaired congenital heart disease.

    PubMed

    Lee, Namheon; Das, Ashish; Taylor, Michael; Hor, Kan; Banerjee, Rupak K

    2013-01-01

    With the success of early repair, continued functional assessment of repaired congenital heart disease is critical for improved long-term outcome. Pulmonary regurgitation, which is one of the main postoperative sequelae of congenital heart disease involved with the right ventricle (RV) such as tetralogy of Fallot and transposition of the great arteries, results in progressive RV dilatation coupled with pulmonary artery (PA) obstruction causing elevated RV pressures. The appropriate timing of intervention to correct these postoperative lesions remains largely subjective. In the present study, we evaluated an energy-based end point, namely energy transfer ratio (eMPA ), to assess the degree of RV and PA inefficiency in a group of congenital heart disease patients with abnormal RV-PA physiology. Eight patients with abnormal RV-PA physiology and six controls with normal RV-PA physiology were investigated using a previously validated technique that couples cardiac magnetic resonance imaging and invasive pressure measurements. The mean eMPA of the patient group (0.56 ± 0.33) was significantly lower (P <.04) than that of the control group (1.56 ± 0.85), despite the fact that the patient group had a significantly higher RV stroke work indexed to body surface area (RV SWI ) than the control group (0.205 ± 0.095 J/m(2) vs. 0.090 ± 0.038 J/m(2) ; P <.02). We determined that the patients had inefficient RV-PA physiology due to a combination of RV dilatation with pulmonary regurgitation and RV outflow obstruction leading to an elevated end-systolic pressure. Using coupled magnetic resonance imaging and invasive pressure measurements, eMPA is determined to be a sensitive energy-based end point for measuring RV-PA efficiency. It may serve as a diagnostic end point to optimize timing of intervention. © 2013 Wiley Periodicals, Inc.

  12. Tibiofibula Transposition in High-Energy Fractures

    PubMed Central

    Gledhill, Rebecca A.; Evans, Nick

    2016-01-01

    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. PMID:27807487

  13. Driving DNA transposition by lentiviral protein transduction

    PubMed Central

    Cai, Yujia; Mikkelsen, Jacob Giehm

    2014-01-01

    Gene vectors derived from DNA transposable elements have become powerful molecular tools in biomedical research and are slowly moving into the clinic as carriers of therapeutic genes. Conventional uses of DNA transposon-based gene vehicles rely on the intracellular production of the transposase protein from transfected nucleic acids. The transposase mediates mobilization of the DNA transposon, which is typically provided in the context of plasmid DNA. In recent work, we established lentiviral protein transduction from Gag precursors as a new strategy for direct delivery of the transposase protein. Inspired by the natural properties of infecting viruses to carry their own enzymes, we loaded lentivirus-derived particles not only with vector genomes carrying the DNA transposon vector but also with hundreds of transposase subunits. Such particles were found to drive efficient transposition of the piggyBac transposable element in a range of different cell types, including primary cells, and offer a new transposase delivery approach that guarantees short-term activity and limits potential cytotoxicity. DNA transposon vectors, originally developed and launched as a non-viral alternative to viral integrating vectors, have truly become viral. Here, we briefly review our findings and speculate on the perspectives and potential advantages of transposase delivery by lentiviral protein transduction. PMID:25057443

  14. Gene Transposition Causing Natural Variation for Growth in Arabidopsis thaliana

    PubMed Central

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

    2010-01-01

    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 × 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

  15. Ovarian transposition: a surgical option for fertility preservation.

    PubMed

    Arian, Sara E; Goodman, Linnea; Flyckt, Rebecca L; Falcone, Tommaso

    2017-04-01

    To describe and demonstrate a novel surgical method for laparoscopic ovarian transposition. In this video, we present a unique minimally invasive technique for transposing the ovaries, whereby the ovary is tunneled through the peritoneum. Video presentation of clinical article. The video uses animations and a surgical case to demonstrate the detailed surgical technique for laparoscopic ovarian transposition with a unique feature. Institutional review board approval was not required for this video presentation. Institutional review board approval is not required at the Cleveland Clinic for a case report of a single patient. Teaching University. A 29-year-old female patient diagnosed with rectal cancer. The patient underwent laparoscopic ovarian transposition followed by ovarian decortication for ovarian tissue freezing of the contralateral ovary, both performed in one laparoscopic surgery, before further chemotherapy and radiation. Value and feasibility of laparoscopic ovarian transposition using the unique feature of ovarian tunneling in maintaining the retroperitoneal location of the ovarian vessels and potentially preserving ovarian blood supply. Creating a retroperitoneal tunnel for passing the ovary through is a feasible and effective technique, while performing laparoscopic ovarian transposition that can be performed in order to prevent the ovarian vessels from taking a sharp turn into the pelvic cavity and thereby preventing alteration of ovarian blood flow. Ovarian transposition is a great surgical option for fertility preservation in reproductive-aged women before they undergo gonadotoxic pelvic or craniospinal radiation. This surgical procedure is not a beneficial option for those patients receiving concomitant gonadotoxic chemotherapy. Ovarian transposition can be performed using different surgical techniques, including laparotomy and laparoscopy. Laparoscopic ovarian transposition is the preferred surgical technique described in the literature, because

  16. Use of a transvenous dual-chamber ICD after a mustard operation for d-transposition of the great vessels.

    PubMed

    Lopez, J Alberto; Lufschanowski, Roberto

    2007-01-01

    A 40-year-old man was admitted to our institution with mild heart failure symptoms, including palpitations and near syncope. Twenty-eight years earlier, he had undergone a Mustard operation to correct d-transposition of the great vessels. At the present admission, echocardiography revealed severe right (systemic) ventricular dysfunction. Continuous monitoring also showed sinus-node dysfunction, sinus bradycardia, and nonsustained ventricular tachycardia. The patient underwent successful transvenous placement of a dual-chamber implantable cardioverter-defibrillator for pacing of the atria and prevention of sudden cardiac death. To our knowledge, there have been no previous reports of transvenous placement of an implantable cardioverter-defibrillator after surgery for d-transposition of the great vessels in the English-language medical literature.

  17. [Congenital torticollis].

    PubMed

    Wicart, P

    2012-03-01

    Congenital torticollis is a very common postural deformity, characterized by a more or less severe retraction of sternocleidomastoid muscle. Any treatment, else that "good sense" counsels given to the parents, is indicated. The evolution is spontaneously favorable in the majority of cases before the age of one year old. The elimination of differential diagnosis (vertebral and/or neurological malformations, ocular, tumor) is the key-point. Screening of congenital hip dislocation is mandatory because the physiopathology is the same in both diseases. A remaining torticolis after 18 months of age may be an indication to sternocleidomastoid muscle lengthening.

  18. Update on congenital glaucoma

    PubMed Central

    Mandal, Anil K; Chakrabarti, Debasis

    2011-01-01

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

  19. Genomic DNA transposition induced by human PGBD5

    PubMed Central

    Henssen, Anton G; Henaff, Elizabeth; Jiang, Eileen; Eisenberg, Amy R; Carson, Julianne R; Villasante, Camila M; Ray, Mondira; Still, Eric; Burns, Melissa; Gandara, Jorge; Feschotte, Cedric; Mason, Christopher E; Kentsis, Alex

    2015-01-01

    Transposons are mobile genetic elements that are found in nearly all organisms, including humans. Mobilization of DNA transposons by transposase enzymes can cause genomic rearrangements, but our knowledge of human genes derived from transposases is limited. In this study, we find that the protein encoded by human PGBD5, the most evolutionarily conserved transposable element-derived gene in vertebrates, can induce stereotypical cut-and-paste DNA transposition in human cells. Genomic integration activity of PGBD5 requires distinct aspartic acid residues in its transposase domain, and specific DNA sequences containing inverted terminal repeats with similarity to piggyBac transposons. DNA transposition catalyzed by PGBD5 in human cells occurs genome-wide, with precise transposon excision and preference for insertion at TTAA sites. The apparent conservation of DNA transposition activity by PGBD5 suggests that genomic remodeling contributes to its biological function. DOI: http://dx.doi.org/10.7554/eLife.10565.001 PMID:26406119

  20. Intramolecular transposition by a synthetic IS50 (Tn5) derivative

    SciTech Connect

    Tomcsanyi, T.; Phadnis, S.H.; Berg, D.E. ); Berg, C.M. )

    1990-11-01

    We report the formation of deletions and inversions by intramolecular transposition of Tn5-derived mobile elements. The synthetic transposons used contained the IS50 O and I end segments and the transposase gene, a contraselectable gene encoding sucrose sensitivity (sacB), antibiotic resistance genes, and a plasmid replication origin. Both deletions and inversions were associated with loss of a 300-bp segment that is designated the vector because it is outside of the transposon. Deletions were severalfold more frequent than inversions, perhaps reflecting constraints on DNA twisting or abortive transposition. Restriction and DNA sequence analyses showed that both types of rearrangements extended from one transposon end to many different sites in target DNA. In the case of inversions, transposition generated 9-bp direct repeats of target sequences.

  1. Single-stranded DNA transposition is coupled to host replication

    PubMed Central

    Hoang, Bao Ton; Pasternak, Cécile; Siguier, Patricia; Guynet, Catherine; Hickman, Alison Burgess; Dyda, Fred; Sommer, Suzanne; Chandler, Michael

    2010-01-01

    DNA transposition has contributed significantly to evolution of eukaryotes and prokaryotes. Insertion sequences (IS) are the simplest prokaryotic transposons and are divided into families based on their organization and transposition mechanism. Here, we describe a link between transposition of IS608 and ISDra2, both members of the IS200/IS605 family which uses obligatory single-stranded (ss) DNA intermediates, and the host replication fork. Replication direction through the IS plays a crucial role in excision: activity is maximal when the “top” IS strand is located on the lagging-strand template. Excision is stimulated upon transient inactivation of replicative helicase function or inhibition of Okazaki fragment synthesis. IS608 insertions also exhibit an orientation preference for the lagging-strand template and insertion can be specifically directed to stalled replication forks. An in silico genomic approach provides evidence that dissemination of other IS200/IS605 family members is also linked to host replication. PMID:20691900

  2. [Correction of paralytic lagophthalmos].

    PubMed

    Iskusnykh, N S; Grusha, Y O

    2015-01-01

    Current options for correction of paralytic lagophthalmos are either temporary (external eyelid weight placement, hyaluronic acid gel or botulinum toxin A injection) or permanent (various procedures for narrowing of the palpebral fissure, upper eyelid weights or spring implantation). Neuroplastic surgery (cross-facial nerve grafting, nerve anastomoses) and muscle transposition surgery is not effective enough. The majority of elderly and medically compromised patients should not be considered for such complicated and long procedures. Upper eyelid weight implantation thus appears the most reliable and simple treatment.

  3. Tracheomalacia - congenital

    MedlinePlus

    ... are floppy. Because the windpipe is the main airway, breathing difficulties begin soon after birth. Congenital tracheomalacia is very uncommon. Symptoms Symptoms can range from mild to severe, and may include: Breathing noises that may change with position and improve during ...

  4. Congenital Defects.

    ERIC Educational Resources Information Center

    Goldman, Allen S.; And Others

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

  5. [Congenital epulis].

    PubMed

    Braga-Tavares, H; Santos, H; M-Pinto, I; Ramos, M; de Sousa, P

    2009-01-01

    Congenital epulis or gingival granular cell tumor is an uncommon benign tumor, usually diagnosed at birth as a pediculated maxilar gingival mass. Although some cases of spontaneous regression have been described, most of the lesions are surgically removed with excelent prognosis and cosmetic final result. The authors describe a case report as well as a short revision on this pathology.

  6. Congenital amusias.

    PubMed

    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."

  7. Congenital Defects.

    ERIC Educational Resources Information Center

    Goldman, Allen S.; And Others

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

  8. Transposition of Great Arteries with Intramural Coronary Artery: Experience with a Modified Surgical Technique

    PubMed Central

    Mishra, Amit; Jain, Anil; Hinduja, Manish; Wadhawa, Vivek; Patel, Ramesh; Vaidhya, Nikunj; Rodricks, Dayesh; Patel, Hardik

    2016-01-01

    Objective: Transposition of the great arteries is a common congenital heart disease. Arterial switch is the gold standard operation for this complex heart disease. Arterial switch operation in the presence of intramural coronary artery is surgically the most demanding even for the most experienced hands. We are presenting our experience with a modified technique for intramural coronary arteries in arterial switch operation. Methods: This prospective study involves 450 patients undergoing arterial switch operation at our institute from April 2006 to December 2013 (7.6 years). Eighteen patients underwent arterial switch operation with intramural coronary artery. The coronary patterns and technique used are detailed in the text. Results: The overall mortality found in the subgroup of 18 patients having intramural coronary artery was 16% (n=3). Our first patient had an accidental injury to the left coronary artery and died in the operating room. A seven-day old newborn died from intractable ventricular arrhythmia fifteen hours after surgery. Another patient who had multiple ventricular septal defects with type B arch interruption died from residual apical ventricular septal defect and sepsis on the eleventh postoperative day. The remainder of the patients are doing well, showing a median follow-up duration of 1235.34±815.26 days (range 369 - 2730). Conclusion: Transposition of the great arteries with intramural coronary artery is demanding in a subset of patients undergoing arterial switch operation. We believe our technique of coronary button dissection in the presence of intramural coronary arteries using coronary shunt is simple and can be a good addition to the surgeons' armamentarium. PMID:27074270

  9. DELETION MAPPING OF CRITICAL REGION FOR HYPOSPADIAS, PENOSCROTAL TRANSPOSITION AND IMPERFORATE ANUS ON HUMAN CHROMOSOME 13

    PubMed Central

    Garcia, Nilda M.; Allgood, Jocelyn; Santos, Lane J.; Lonergan, D.; Batanian, J.R.; Henkemeyer, Mark; Bartsch, Oliver; Schultz, Roger A.; Zinn, Andrew R.; Baker, Linda A.

    2007-01-01

    Background The 13q-deletion syndrome causes human congenital birth defects due to the loss of regions of one long arm of human chromosome 13. A distal critical region for severe genitourinary and anorectal birth defects in the region of 13q32.2-34 has been suggested; we sought to narrow this critical region. Methods From patients with karyotypes revealing haploinsufficiency for distal chromosome 13q and their parents, peripheral blood was obtained and lymphocytes were immortalized for DNA isolation. Genetic and molecular cytogenetic methods were used to map deletions. Patient and parental samples were genotyped with a panel of 20 microsatellite markers spanning 13q31.3 qter and deletions identified by loss of heterozygosity. Deletions were also mapped using a panel of 35 BAC clones from the same region as probes for fluorescence in-situ hybridization on patient lymphoblastoid metaphase preparations. The data were synthesized and a deletion map defining the critical region was generated. Results Eight patients with known deletions around 13q32qter and their parents were analyzed, and categorized into three groups: three patients with anorectal and genitourinary anomalies (hypospadias, penoscrotal transposition), four male patients without anorectal and genitourinary anomalies, and one XY patient with ambiguous genitalia without anorectal anomalies. We mapped the critical region for anorectal and genitourinary anomalies to a ∼9.5-Mb interval of 13q33.3-q34 delineated by markers D13S280-D13S285; this spans ∼8% of the chromosome and contains 20 annotated genes Conclusion The critical region of chromosome 13q mediating genitourinary/anorectal anomalies has been mapped, and will be narrowed by additional patients and further mapping. Identification of the gene(s) mediating these syndromic genitourinary defects should further our knowledge of molecular mediators of non-syndromic hypospadias, penoscrotal transposition and anorectal malformations. PMID:17476316

  10. Laryngoplasty using suprahyoid muscles--hyoid transposition laryngoplasty.

    PubMed

    Morimitsu, T; Nagai, T; Nagai, M; Ide, M; Tono, T; Kurogi, M; Kasano, F; Adachi, Y; Saku, K

    1985-01-01

    A new technique of laryngoplasty using the function of the suprahyoid muscles (hyoid transposition laryngoplasty) was reported. Total laryngectomy is carried out as usual and the tracheal stump is anastomosed directly to the hypopharynx. The hyoid bone is cut medially, then transpositioned and sutured to the posterolateral margins of the tracheal stump. With this procedure, the new glottis is pressed strongly to the tongue base during swallowing and aspiration is avoided. Postoperative swallowing and speech in the cases operated on with this method were satisfactory, and even nasal respiration was possible in some cases.

  11. Submuscular transposition for the ulnar nerve at the elbow.

    PubMed

    Posner, M A

    1984-01-01

    Forty patients who underwent submuscular transpositions of the ulnar nerve at the elbow (41 operations) were evaluated. A grading system was formulated to compare the preoperative and postoperative condition of each patient with respect to tenderness over the nerve, numbness, paresthesia, and muscle weakness. Thirty-seven of the 41 cases showed an improvement in grade. Of the 34 cases that demonstrated muscle weakness preoperatively, 25 improved following surgery, including five patients who had severe intrinsic muscle weakness with clawing of the ring and little finger. Muscle reattachment following nerve transposition was secure, even in a professional athlete.

  12. Epidemiology of congenital heart disease in Brazil

    PubMed Central

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

    2015-01-01

    Introduction Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007. Objective To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes. Methods The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables. Results The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498); atrial septal defect (4,693); persistent ductus arteriosus (2,490); pulmonary stenosis (1,431); tetralogy of Fallot (973); coarctation of the aorta (973); transposition of the great arteries (887); and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults. Conclusion In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration. PMID:26107454

  13. [Congenital heart diseases in women].

    PubMed

    Putotto, Carolina; Unolt, Marta; Caiaro, Angela; Marino, Dario; Massaccesi, Valerio; Marino, Bruno; Digilio, Maria Cristina

    2013-02-01

    Are there gender differences in prevalence, surgical results and long-term survival of patients with congenital heart disease? Available literature data allow us to state what follows. At birth there is a mild but significant prevalence of congenital heart disease in females. The most severe congenital heart diseases are less frequent in girls, but when they are present in females, they are linked to a higher surgical mortality rate, due perhaps to lower weight at birth and to the prevalence of extracardiac malformations and/or of associated genetic syndromes. On the other hand, in adults, surgery for congenital heart disease is at higher risk in males, and so the long-term survival rate is higher in females. Particular psychological attitudes, a higher incidence of pulmonary hypertension, as well as specific problems linked to the reproductive function characterize congenital heart disease in adult women. The knowledge and analysis of these data are essential for a correct management of congenital heart disease in neonates, children and adults.

  14. Are all Semitic languages immune to letter transpositions? The case of Maltese.

    PubMed

    Perea, Manuel; Gatt, Albert; Moret-Tatay, Carmen; Fabri, Ray

    2012-10-01

    Recent research using the rapid serial visual presentation (RSVP) paradigm with English sentences that included words with letter transpositions (e.g., jugde) has shown that participants can readily reproduce the correctly spelled sentences with little cost; in contrast, there is a dramatic reading cost with root-derived Hebrew words (Velan & Frost, Psychonomic Bulletin & Review 14:913-918, 2007, Cognition 118:141-156, 2011). This divergence could be due to (1) the processing of root-derived words in Semitic languages or (2) the peculiarities of the transitional probabilities in root-derived Hebrew words. Unlike Hebrew, Maltese is a Semitic language that does not omit vowel information in print and whose morphology also has a significant non-Semitic (mostly Romance) morphology. Here, we employed the same RSVP technique used by Velan and Frost (Psychonomic Bulletin & Review 14:913-918, 2007, Cognition 118:141-156, 2011), this time with Maltese (and English) sentences. The results showed that Maltese-English bilinguals were able to reproduce the Maltese words-regardless of whether they were misspelled (involving the transposition of two letters from the consonantal root) or not, with no reading cost-just as in English. The apparent divergences between the RSVP data with Hebrew versus Maltese sentences are likely due to the combination of the characteristics of the Hebrew orthographic system with the Semitic morphology.

  15. Congenital scoliosis.

    PubMed

    Kose, Nusret; Campbell, Robert M

    2004-05-01

    The management of congenital scoliosis requires a systematic approach with careful attention to detail. Any fortuitous diagnosis of vertebral anomalies in infancy, even if there is no significant scoliosis at that time on x-ray, requires frequent clinical and radiographic follow-up to detect progression. The presence of associated anomalies of the spinal cord, the kidneys and the heart should be evaluated by MRI, renal ultrasound or IVP, with cardiology evaluation as indicated. Curve progression or severe vertebral anomalies known to cause curve progression require immediate treatment to prevent deformity. Significant thoracic deformity, especially in a patient with thoracic insufficiency syndrome, is best treated with expansion thoracoplasty. The patient with congenital scoliosis requires a long term commitment to care with frequent orthopaedic follow-up throughout the growing years along with routine pulmonary function assessment once the patient is able to cooperate with testing.

  16. [Congenital hydrocephalus].

    PubMed

    Malagón-Valdez, J

    2006-04-10

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

  17. Relational Learning in a Context of Transposition: A Review

    ERIC Educational Resources Information Center

    Lazareva, Olga F.

    2012-01-01

    In a typical transposition task, an animal is presented with a single pair of stimuli (for example, S3+S4-, where plus and minus denote reward and nonreward and digits denote stimulus location on a sensory dimension such as size). Subsequently, an animal is presented with a testing pair that contains a previously reinforced or nonreinforced…

  18. [Prosthesis interposition in the case of subclavian artery transposition].

    PubMed

    György, G; Acosta Alvarez, P

    1993-01-01

    When we can't realize the reimplantation because of technical difficulties, special cases are presented during transposition from the subclavian artery to the primitive carotid artery. In these cases, between primitive carotid artery and the subclavian artery and also the vertebral artery, Gore-tex's tubes were implanted with favourable results.

  19. Efficient Sleeping Beauty DNA Transposition From DNA Minicircles

    PubMed Central

    Sharma, Nynne; Cai, Yujia; Bak, Rasmus O; Jakobsen, Martin R; Schrøder, Lisbeth Dahl; Mikkelsen, Jacob Giehm

    2013-01-01

    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. PMID:23443502

  20. Cognitive development in transposition of the great vessels.

    PubMed

    Hesz, N; Clark, E B

    1988-02-01

    Ten children who had had transposition of the great vessels (TGV) repaired, deep hypothermia, and cardiac arrest were examined. Seven children with acyanotic heart disease and 12 unaffected siblings were tested for comparison. Their intelligence, academic achievement, and behaviour was studied. The group with TGV had lower performance subscores on the intelligence test, an increase in somatic complaints, and aggressive behaviour.

  1. Resolving the prevalence of somatic transposition in Drosophila

    PubMed Central

    Treiber, Christoph D; Waddell, Scott

    2017-01-01

    Somatic transposition in mammals and insects could increase cellular diversity and neural mobilization has been implicated in age-dependent decline. To understand the impact of transposition in somatic cells it is essential to reliably measure the frequency and map locations of new insertions. Here we identified thousands of putative somatic transposon insertions in neurons from individual Drosophila melanogaster using whole-genome sequencing. However, the number of de novo insertions did not correlate with transposon expression or fly age. Analysing our data with exons as ‘immobile genetic elements’ revealed a similar frequency of unexpected exon translocations. A new sequencing strategy that recovers transposon: chromosome junction information revealed most putative de novo transposon and exon insertions likely result from unavoidable chimeric artefacts. Reanalysis of other published data suggests similar artefacts are often mistaken for genuine somatic transposition. We conclude that somatic transposition is less prevalent in Drosophila than previously envisaged. DOI: http://dx.doi.org/10.7554/eLife.28297.001 PMID:28742021

  2. Relational Learning in a Context of Transposition: A Review

    ERIC Educational Resources Information Center

    Lazareva, Olga F.

    2012-01-01

    In a typical transposition task, an animal is presented with a single pair of stimuli (for example, S3+S4-, where plus and minus denote reward and nonreward and digits denote stimulus location on a sensory dimension such as size). Subsequently, an animal is presented with a testing pair that contains a previously reinforced or nonreinforced…

  3. Tibial fracture after transposition of the tibial tubercle.

    PubMed

    van Haeff, M J; Sauter, A J

    1991-01-01

    Eight weeks after transposition of the tibial tubercle for recurrent subluxation of the patella, the patient sustained a tibial fracture during rope jumping. In spite of consolidation of the osteotomy in the frontal plane, there remained a small gap in the anterior cortex in the transverse plane through which the tibia failed during bending stress.

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

    DOEpatents

    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.

  5. Postoperative Complications and Short-Term Outcome Following Single-Session Bilateral Corrective Surgery for Medial Patellar Luxation in Dogs Weighing <15 kg: 50 Cases (2009-2014).

    PubMed

    Gallegos, Javier; Unis, Marcos; Roush, James K; Agulian, Lori

    2016-10-01

    To assess complication rates and short-term outcome in small dogs with bilateral medial patellar luxation (MPL) undergoing single-session bilateral corrective surgery. Retrospective case series. Dogs weighing <15 kg with congenital bilateral MPL that underwent single-session bilateral corrective surgery (n = 50). Surgical procedures for MPL correction included trochlear wedge recession (TWR), crest transposition, lateral imbrication, and medial fascial release. Complication rates were correlated with number of surgical procedures, weight, whether or not a bandage was applied postoperatively, and surgeon experience (ACVS Diplomate vs resident). Results were compared with the most recent study evaluating single-session bilateral corrective surgery for MPL. Overall complication rate was 22% (11 of 50 dogs). Implant failure occurred in 2 dogs (3 stifles) requiring revision. Grade 1 patella reluxation was the most common minor complication at 10% (5/50). Overall complication and reluxation rates were similar to previous studies. There were no intraoperative complications after performing TWR in small dogs. Single-session bilateral corrective surgery for MPL is well tolerated in small dogs with complication rates historically similar to dogs undergoing unilateral or staged bilateral surgery. With individual case assessment, single-session surgery could be offered to owners, allowing one anesthetic episode and potentially lowering the chance for morbidity. Further studies, ideally prospective studies, are needed to assess long-term outcome following single-session bilateral corrective surgery for MPL. © Copyright 2016 by The American College of Veterinary Surgeons.

  6. [Congenital ranula].

    PubMed

    Marques, Maria Inês; Morais, Sofia; Coutinho, Sílvia; de Castro, Ochoa; Rei, Ana Isabel

    2010-01-01

    The authors describe a case of congenital ranula diagnosed by a routine prenatal ultrasonography at 21 weeks of gestation. The fetal kariotype was normal. Follow-up ultrasound scans revealed no changes in the size or the position of the cyst. Fetal growth was normal as was the amniotic fluid volume. Surgical treatment was performed 3 days after a normal vaginal delivery, with excellent results.

  7. Congenital Hydrocephalus.

    PubMed

    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.

  8. [Congenital aniridia].

    PubMed

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

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

  9. Lengthening of congenital forearm stumps.

    PubMed

    Jasiewicz, Barbara; Tesiorowski, Maciej; Kacki, Wojciech; Kasprzyk, Marcin; Zarzycki, Daniel

    2006-05-01

    The Ilizarov device and distraction osteogenesis method became very useful in correction and elongation of forearm defects. Two cases of forearm elongation with congenital transverse defect are described. The construction of the device is provided. During follow-up examination, 2 and 7 years after the treatment, good clinical results were achieved in both patients with the use of upper limb prosthesis employing the patient's own elbow joint. Presented application of the Ilizarov method can significantly improve possibilities for the use of prosthesis in patients with congenital upper limb defects and result in better cosmetic and functional outcome.

  10. [Complex Congenital Heart Disease: The Influence of Prenatal Diagnosis].

    PubMed

    Correia, Marta; Fortunato, Fabiana; Martins, Duarte; Teixeira, Ana; Nogueira, Graça; Menezes, Isabel; Anjos, Rui

    2015-01-01

    Complex congenital heart disease is a group of severe conditions. Prenatal diagnosis has implications on morbidity and mortality for most severe conditions. The purpose of this work was to evaluate the influence of prenatal diagnosis and distance of residence and birth place to a reference center, on immediate morbidity and early mortality of complex congenital heart disease. Retrospective study of complex congenital heart disease patients of our Hospital, born between 2007 and 2012. There were 126 patients born with complex congenital heart disease. In 95%, pregnancy was followed since the first trimester, with prenatal diagnosis in 42%. There was a statistically significant relation between birth place and prenatal diagnosis. Transposition of great arteries was the most frequent complex congenital heart disease (45.2%), followed by pulmonary atresia with ventricular septal defect (17.5%) and hypoplastic left ventricle (9.5%). Eighty-two patients (65.1%) had prostaglandin infusion and 38 (30.2%)were ventilated before an intervention. Surgery took place in the neonatal period in 73%. Actuarial survival rate at 30 days, 12 and 24 months was 85%, 80% and 75%, respectively. There was no statistically significant relation between prenatal diagnosis and mortality. Most patients with complex congenital heart disease did not have prenatal diagnosis. All cases with prenatal diagnosis were born in a tertiary center. Prenatal diagnosis did not influence significantly neonatal mortality, as already described in other studies with heterogeneous complex heart disease. prenatal diagnosis of complex congenital heart disease allowed an adequate referral. Most patients with complex congenital heart disease werenâÄôt diagnosed prenatally. This data should be considered when planning prenatal diagnosis of congenital heart disease.

  11. Ocular pathology in congenital heart disease.

    PubMed

    Mansour, A M; Bitar, F F; Traboulsi, E I; Kassak, K M; Obeid, M Y; Megarbane, A; Salti, H I

    2005-01-01

    To describe the ocular findings in subjects with congenital heart disease (CHD). In a prospective study, the same observer examined 240 consecutive patients with CHD admitted to the medical centre. Two independent geneticists performed identification of syndromes. The commonest anatomic cardiac anomalies were ventricular or atrial septal defects (62), tetralogy of Fallot (39), pulmonary stenosis (25), and transposition of the great arteries (24). The heart lesions were divided physiologically into volume overload (90), cyanotic (87), and obstructive (63). In all, 105 syndromic subjects included the velocardiofacial syndrome (18), Down's syndrome (17), CHARGE association (6), DiGeorge syndrome (5), Williams syndrome (3), Edwards syndrome (3), Noonan syndrome (3), VACTERL association (2), and Patau syndrome (trisomy 13) (2). The paediatric team recognized 51 patients as syndromic. Two independent geneticists recognized additional 54 patients as syndromic. Positive eye findings were present in 55% (132) and included retinal vascular tortuosity (46), optic disc hypoplasia (30), trichomegaly (15), congenital ptosis (12), strabismus (11), retinal haemorrhages (8), prominent eyes (7), and congenital cataract (6). There was a strong correlation between the retinal vascular tortuosity and both a low haematocrit (P=0.000) and a low arterial oxygen saturation (P=0.002). Patients with CHD are at a high risk for ocular pathology and need screening for various ocular abnormalities.

  12. Long term follow-up of medial column fusion and tibialis anterior transposition for adolescent flatfoot deformity.

    PubMed Central

    Sekiya, J. K.; Saltzman, C. L.

    1997-01-01

    We report the results of three patients (four feet) who had surgical correction of adolescent flatfeet performed over fifty years ago. The surgery involved medial column stabilization with fusion procedures and tibialis anterior transposition into the navicular (Young's tenosuspension procedure). In this small sample, we found a high rate of painful arthrosis that developed over time in the contiguous joints of the foot. Images Figure 1A Figure 1B Figure 1C Figure 1D Figures 2A Figures 2B Figures 2C Figure 3 Figure 3B Figure 4 PMID:9234984

  13. [Congenital megaprepuce: diagnosis and terapeutic management].

    PubMed

    Delgado Oliva, F J; Domínguez Hinarejos, C; Serrano Durbá, S; Estornell Moragues, F; Martínez Verduch, M; García Ibarra, F

    2006-01-01

    [corrected] To analize the clinical presentation, diagnosis and surgical management of congenital megaprepuce (CM). We have made a retrospective study of four cases of CM diagnosed and treated in our centre between october 1997 and april 2005. We studied the diagnosis and surgical treatment. CM is an infrecuent condition that can be confused with others pathologies. It's necessary to diagnose and treat it correctly.

  14. Consensus on timing of intervention for common congenital heart diseases: part II - cyanotic heart defects.

    PubMed

    Rao, P Syamasundar

    2013-08-01

    The purpose of this review/editorial is to discuss how and when to treat the most common cyanotic congenital heart defects (CHDs); the discussion of acyanotic heart defects was presented in a previous editorial. By and large, the indications and timing of intervention are decided by the severity of the lesion. While some patients with acyanotic CHD may not require surgical or transcatheter intervention because of spontaneous resolution of the defect or mildness of the defect, the majority of cyanotic CHD will require intervention, mostly surgical. Total surgical correction is the treatment of choice for tetralogy of Fallot patients although some patients may need to be palliated initially by performing a modified Blalock-Taussig shunt. For transposition of the great arteries, arterial switch (Jatene) procedure is the treatment of choice, although Rastelli procedure is required for patients who have associated ventricular septal defect (VSD) and pulmonary stenosis (PS). Some of these babies may require Prostaglandin E1 infusion and/or balloon atrial septostomy prior to corrective surgery. In tricuspid atresia patients, most babies require palliation at presentation either with a modified Blalock-Taussig shunt or pulmonary artery banding followed later by staged Fontan (bidirectional Glenn followed later by extracardiac conduit Fontan conversion usually with fenestration). Truncus arteriosus babies are treated by closure of VSD along with right ventricle to pulmonary artery conduit; palliative banding of the pulmonary artery is no longer recommended. Total anomalous pulmonary venous connection babies require anastomosis of the common pulmonary vein with the left atrium at presentation. Other defects should also be addressed by staged correction or complete repair depending upon the anatomy/physiology. Feasibility, safety and effectiveness of treatment of cyanotic CHD with currently available medical, transcatheter and surgical methods are well established and should

  15. Congenital anomalies

    PubMed Central

    Kunisaki, Shaun M.

    2012-01-01

    Over the past decade, amniotic fluid-derived stem cells have emerged as a novel, experimental approach for the treatment of a wide variety of congenital anomalies diagnosed either in utero or postnatally. There are a number of unique properties of amniotic fluid stem cells that have allowed it to become a major research focus. These include the relative ease of accessing amniotic fluid cells in a minimally invasive fashion by amniocentesis as well as the relatively rich population of progenitor cells obtained from a small aliquot of fluid. Mesenchymal stem cells, c-kit positive stem cells, as well as induced pluripotent stem cells have all been derived from human amniotic fluid in recent years. This article gives a pediatric surgeon’s perspective on amniotic fluid stem cell therapy for the management of congenital anomalies. The current status in the use of amniotic fluid-derived stem cells, particularly as they relate as substrates in tissue engineering-based applications, is described in various animal models. A roadmap for further study and eventual clinical application is also proposed. PMID:22986340

  16. Congenital Toxoplasmosis

    PubMed Central

    McAuley, James B.

    2014-01-01

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

  17. Incomplete transposition of the common femoral artery and vein.

    PubMed

    Leite, J O; Carvalho Ventura, I; Botelho, F E; Costa Galvao, W

    2010-02-01

    Anatomical variations of the great saphenous vein, femoral artery and femoral vein at the inguinal level are rare. Modifications in the anatomical relationships among theses vessel can cause technical difficulties. There are two reports in the literature of the complete transposition of the femoral artery and vein. Both patients had large varicose veins only in the limb that presented the variation, which suggested an extrinsic compression. In the present paper, we report a case study of a patient with an incomplete transposition of the femoral artery and vein. Specifically, the common femoral vein and the saphenofemoral junction were completely overlapped by the common femoral artery. Although this anatomical variation did not present any clinical signs, it required a more complex surgical procedure.

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

    PubMed

    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.

  19. Current indications and results for thoracoplasty and intrathoracic muscle transposition.

    PubMed

    Krassas, Athanase; Grima, Renaud; Bagan, Patrick; Badia, Alain; Arame, Alex; Barthes, Françoise Le Pimpec; Riquet, Marc

    2010-05-01

    Thoracoplasty has lost much of its popularity and is being supplanted by space-reduction operations using muscle flaps. Our purpose is to retrospectively study the remaining indications and the evolving modifications of this ancient technique in our current surgical practice. From 1994 to 2008, 35 patients underwent a thoracoplasty procedure in a single thoracic surgery centre for treatment of infectious complications of previous thoracic surgery. The number and length of ribs excised were dictated by the size and location of the thoracic cavity to obliterate. Muscle flaps were used to buttress bronchial fistulas and to fill out residual spaces. We reviewed the immediate and long-term results concerning infection control and procedure tolerance. The infectious complications of previous thoracic surgery were related to cancer in 25, tuberculosis in six, oesophageo-pleural fistula in two, ruptured lung abscess and pleural thickening in one each. The thoracoplasty procedure was performed for: (1) post-pneumonectomy empyema, n=20 (bronchial fistula, n=11; open window thoracostomy, n=14; mean number of resected ribs, n=7.5; associated intrathoracic muscle transposition, n=12; postoperative death, n=3); (2) post-lobectomy empyema, n=8 (bronchial fistula n=8; open window thoracostomy n=1; mean number of resected ribs n=3.6; associated intrathoracic muscle transposition n=7; no death); (3) other indications, n=7 (mean number of resected ribs n=4.8; associated intrathoracic muscle transposition n=3; no death). All patients discharged from the hospital except one were cured and did not complain of symptoms of secondary lung function and shoulder impairment. Although thoracoplasty is rarely indicated nowadays, this does not imply that the procedure should be avoided. Thoracoplasty may be associated with myoplasty, which permits achieving complete space obliteration by combining resection of a few rib segments and limited intrathoracic muscle transposition. Copyright 2009

  20. Regulated complex assembly safeguards the fidelity of Sleeping Beauty transposition

    PubMed Central

    Wang, Yongming; Pryputniewicz-Dobrinska, Diana; Nagy, Enikö Éva; Kaufman, Christopher D.; Singh, Manvendra; Yant, Steve; Wang, Jichang; Dalda, Anna; Kay, Mark A.; Ivics, Zoltán; Izsvák, Zsuzsanna

    2017-01-01

    The functional relevance of the inverted repeat structure (IR/DR) in a subgroup of the Tc1/mariner superfamily of transposons has been enigmatic. In contrast to mariner transposition, where a topological filter suppresses single-ended reactions, the IR/DR orchestrates a regulatory mechanism to enforce synapsis of the transposon ends before cleavage by the transposase occurs. This ordered assembly process shepherds primary transposase binding to the inner 12DRs (where cleavage does not occur), followed by capture of the 12DR of the other transposon end. This extra layer of regulation suppresses aberrant, potentially genotoxic recombination activities, and the mobilization of internally deleted copies in the IR/DR subgroup, including Sleeping Beauty (SB). In contrast, internally deleted sequences (MITEs) are preferred substrates of mariner transposition, and this process is associated with the emergence of Hsmar1-derived miRNA genes in the human genome. Translating IR/DR regulation to in vitro evolution yielded an SB transposon version with optimized substrate recognition (pT4). The ends of SB transposons excised by a K248A excision+/integration- transposase variant are processed by hairpin resolution, representing a link between phylogenetically, and mechanistically different recombination reactions, such as V(D)J recombination and transposition. Such variants generated by random mutation might stabilize transposon-host interactions or prepare the transposon for a horizontal transfer. PMID:27913727

  1. Regulated complex assembly safeguards the fidelity of Sleeping Beauty transposition.

    PubMed

    Wang, Yongming; Pryputniewicz-Dobrinska, Diana; Nagy, Enikö Éva; Kaufman, Christopher D; Singh, Manvendra; Yant, Steve; Wang, Jichang; Dalda, Anna; Kay, Mark A; Ivics, Zoltán; Izsvák, Zsuzsanna

    2017-01-09

    The functional relevance of the inverted repeat structure (IR/DR) in a subgroup of the Tc1/mariner superfamily of transposons has been enigmatic. In contrast to mariner transposition, where a topological filter suppresses single-ended reactions, the IR/DR orchestrates a regulatory mechanism to enforce synapsis of the transposon ends before cleavage by the transposase occurs. This ordered assembly process shepherds primary transposase binding to the inner 12DRs (where cleavage does not occur), followed by capture of the 12DR of the other transposon end. This extra layer of regulation suppresses aberrant, potentially genotoxic recombination activities, and the mobilization of internally deleted copies in the IR/DR subgroup, including Sleeping Beauty (SB). In contrast, internally deleted sequences (MITEs) are preferred substrates of mariner transposition, and this process is associated with the emergence of Hsmar1-derived miRNA genes in the human genome. Translating IR/DR regulation to in vitro evolution yielded an SB transposon version with optimized substrate recognition (pT4). The ends of SB transposons excised by a K248A excision(+)/integration(-) transposase variant are processed by hairpin resolution, representing a link between phylogenetically, and mechanistically different recombination reactions, such as V(D)J recombination and transposition. Such variants generated by random mutation might stabilize transposon-host interactions or prepare the transposon for a horizontal transfer. © The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research.

  2. Preferential Transposition of Drosophila P Elements to Nearby Chromosomal Sites

    PubMed Central

    Tower, J.; Karpen, G. H.; Craig, N.; Spradling, A. C.

    1993-01-01

    Two different schemes were used to demonstrate that Drosophila P elements preferentially transpose into genomic regions close to their starting sites. A starting element with weak rosy(+) marker gene expression was mobilized from its location in the subtelomeric region of the 1,300-kb Dp1187 minichromosome. Among progeny lines with altered rosy(+) expression, a much higher than expected frequency contained new insertions on Dp1187. Terminal deficiencies were also recovered frequently. In a second screen, a rosy(+)-marked element causing a lethal mutation of the cactus gene was mobilized in male and female germlines, and viable revertant chromosomes were recovered that still contained a rosy(+) gene due to an intrachromosomal transposition. New transpositions recovered using both methods were mapped between 0 and 128 kb from the starting site. Our results suggested that some mechanism elevates the frequency 43-67-fold with which a P element inserts near its starting site. Local transposition is likely to be useful for enhancing the rate of insertional mutation within predetermined regions of the genome. PMID:8382177

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

    PubMed

    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.

  4. Single strand transposition at the host replication fork

    PubMed Central

    Lavatine, Laure; He, Susu; Caumont-Sarcos, Anne; Guynet, Catherine; Marty, Brigitte; Chandler, Mick; Ton-Hoang, Bao

    2016-01-01

    Members of the IS200/IS605 insertion sequence family differ fundamentally from classical IS essentially by their specific single-strand (ss) transposition mechanism, orchestrated by the Y1 transposase, TnpA, a small HuH enzyme which recognizes and processes ss DNA substrates. Transposition occurs by the ‘peel and paste’ pathway composed of two steps: precise excision of the top strand as a circular ss DNA intermediate; and subsequent integration into a specific ssDNA target. Transposition of family members was experimentally shown or suggested by in silico high-throughput analysis to be intimately coupled to the lagging strand template of the replication fork. In this study, we investigated factors involved in replication fork targeting and analysed DNA-binding properties of the transposase which can assist localization of ss DNA substrates on the replication fork. We showed that TnpA interacts with the β sliding clamp, DnaN and recognizes DNA which mimics replication fork structures. We also showed that dsDNA can facilitate TnpA targeting ssDNA substrates. We analysed the effect of Ssb and RecA proteins on TnpA activity in vitro and showed that while RecA does not show a notable effect, Ssb inhibits integration. Finally we discuss the way(s) in which integration may be directed into ssDNA at the replication fork. PMID:27466393

  5. Baffle puncture guided by transoesophageal echocardiography in a patient with dextrocardia and Mustard correction.

    PubMed

    Schwagten, B; Jordaens, L; Jessurun, E; Witsenburg, M; Scheffer, M; Szili-Torok, T

    2009-01-01

    A baffle puncture is a challenging procedure but can be safely done using direct visualization of the region of interest. To our knowledge, however, it has never been performed in a patient with dextrocardia. We present a 62-year-old male with dextrocardia, right isomerism, congenitally corrected transposition of the great arteries, persistent left-sided superior and inferior caval veins, atrial septum defect, and pulmonary valve stenosis. The atrial septum defect was surgically closed with a Teflon patch, a variant Mustard operation was performed, and also a prosthetic tricuspid valve was implanted. The patient developed multiple episodes of atrial tachycardia leading to acute heart failure on many occasions. An electrophysiological study was undertaken in order to create a bi-atrial electro-anatomical map. Owing to the presence of a prosthetic tricuspid valve, the femoral venous access was used and a baffle puncture was performed using continuous monitoring with fluoroscopy and transoesophageal echocardiography (TEE). The baffle puncture was successful and the tachycardia was ablated in the systemic venous atrium. To our knowledge, we present the very first case report demonstrating a successful baffle puncture in a patient with dextrocardia and Mustard correction. Direct imaging using TEE seems to be a very useful tool for guiding the puncture.

  6. Performance Analysis of Transposition Models Simulating Solar Radiation on Inclined Surfaces

    SciTech Connect

    Xie, Yu; Sengupta, Manajit

    2016-06-02

    Transposition models have been widely used in the solar energy industry to simulate solar radiation on inclined photovoltaic panels. Following numerous studies comparing the performance of transposition models, this work aims to understand the quantitative uncertainty in state-of-the-art transposition models and the sources leading to the uncertainty. Our results show significant differences between two highly used isotropic transposition models, with one substantially underestimating the diffuse plane-of-array irradiances when diffuse radiation is perfectly isotropic. In the empirical transposition models, the selection of the empirical coefficients and land surface albedo can both result in uncertainty in the output. This study can be used as a guide for the future development of physics-based transposition models and evaluations of system performance.

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

    PubMed

    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.

  8. Neuroanatomical correlates of musical transposition in adolescents: a longitudinal approach

    PubMed Central

    Sutherland, Mary Elizabeth; Paus, Tomáš; Zatorre, Robert J.

    2013-01-01

    Musicians are trained in melodic transposition, the skill of extracting the pitch interval structure (i.e., the frequency ratios between pitches) and moving it into different keys (i.e., different pitch levels). This ability to recognize whether a melody is the same or altered when it is played back in a different key is correlated with both greater neural activation and cortical thickness in bilateral intraparietal sulcus (IPS). Musical training only explains part of this finding, suggesting that the ability to transpose a melody may have innate predispositions. The current study was designed to address this question: are the anatomical correlates of musical transposition already present in non-musician children at 14 years of age? If so, is there any evidence that those traits were already in place at earlier ages? To answer this question, we recruited 47 adolescents (age 14.5 years) from a longitudinal study and tested them on a melodic transposition task. These adolescents had already undergone anatomical magnetic resonance imaging (MRI) at the ages of 10 (Time 1), 11.5 (Time 2), 13 (Time 3) years, as well as at age 14.5 years (Time 4) They were tested on the transposition task during Time-4 visit. During this visit, we found a relationship between cortical thickness in left IPS and performance on the transposed melody task in the girls and not the boys; no such relationship was observed at any of the earlier ages. Given that girls reach more advanced staged of pubertal maturation earlier than boys, it is possible that the relationship between cortical thickness in IPS and skill at melodic transposition only emerges once the brain has reached a certain degree of maturity. This claim is supported by a lack of similar sex differences in the adults: the degree of correlation between cortical thickness and performance on the same transposed melody task did not differ between men and women in a previous study. Taken together, our results suggest that the

  9. Device Extraction in Adults with Congenital Heart Disease

    PubMed Central

    CESARIO, DAVID; KEDIA, ROHIT; DESAI, NIRAV; ABOULHOSN, JAMIL; USLAN, DANIEL; BOYLE, NOEL; FUJIMURA, OSAMU; SHEHATA, MICHAEL; BUCH, ERIC; SHIVKUMAR, KALYANAM

    2010-01-01

    Background Device extraction is a critical component in the treatment of patients with device-related infections. Due to complex anatomic considerations, device extraction in adults with congenital heart disease presents unique challenges to the electrophysiologist. Methods Here, we present a series of device-extraction cases performed in patients with transposition of the great arteries status post either Mustard or Senning surgical procedures that subsequently had permanent pacemakers placed and ultimately developed device-related infections. Results All of these patients eventually underwent successful laser extractions of their infected devices resulting in complete removal of all hardware and resolution of their infections. Conclusions These cases illustrate that endovascular device extraction has been safely and effectively performed in adult patients with congenital heart disease, though further studies are needed to determine the procedural risks and success rates of this procedure in this patient population. PMID:19272064

  10. Objective and Subjective Improvement of Hearing in Noise After Surgical Correction of Unilateral Congenital Aural Atresia in Pediatric Patients: A Prospective Study Using the Hearing in Noise Test, the Sound-Spatial-Quality Questionnaire, and the Glasgow Benefit Inventory.

    PubMed

    Byun, Hayoung; Moon, Il Joon; Woo, Sook-Young; Jin, Sun Hwa; Park, Heesung; Chung, Won-Ho; Hong, Sung Hwa; Cho, Yang-Sun

    2015-01-01

    The aim of this study was to assess the objective and subjective long-term binaural benefits of surgical correction in children with unilateral congenital aural atresia, using an open-set sentence test in noise and subjective questionnaires. A prospective study was performed between August 2010 and February 2013. This study included pediatric patients who had unilateral conductive hearing loss (normal bone conduction hearing) on the atretic side but normal air conduction hearing on the normal side and were scheduled to undergo a primary canaloplasty. Pure-tone audiometry, the hearing in noise test (HINT), and questionnaires (Sound-Spatial-Qualities of Hearing Scale; Glasgow Benefit Inventory [GBI]) were administered preoperatively and at 6 and 12 months postoperatively. Among 34 consecutive patients who initially met enrollment criteria, 26 subjects (23 boys and 3 girls) aged 10 to 16 years (mean 12.3 years) completed this study. Canaloplasty and hearing restoration procedures were performed uneventfully in all patients. The mean air conduction thresholds were significantly improved from 63.9 to 35.0 dB (6 months) and 39.4 dB (12 months) after surgery (p < 0.001). In HINT, speech understanding in noise that was presented toward the newly opened atretic ear significantly improved at 1 year postoperatively (p = 0.014). In noise toward the normal ear, speech understanding significantly improved after surgery, from -0.1 dB preoperatively to -2.0 dB at 6 months (p = 0.002) and -1.8 dB at 12 months (p = 0.005) (p for quadratic trend = 0.036). The composite score improved from -2.6 dB preoperatively to -3.4 dB at 6 months and -3.6 dB at 12 months (p = 0.045; p for linear trend = 0.005). The Sound-Spatial-Qualities of Hearing Scale scores in all domains significantly improved 1 year after surgery (p < 0.034). The mean GBI scores in each domain ranged from 14.2 to 49.4. Total GBI score was correlated with better signal to noise ratio in noise toward the atretic ear as

  11. Congenital hypothyroidism

    PubMed Central

    2010-01-01

    Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses) account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born in areas of endemic iodine deficiency. In countries with newborn screening programs in place, infants with CH are diagnosed after detection by screening tests. The diagnosis should be confirmed by finding an elevated serum TSH and low T4 or free T4 level. Other diagnostic tests, such as thyroid radionuclide uptake and scan, thyroid sonography, or serum thyroglobulin determination may help pinpoint the underlying etiology, although treatment may be started without these tests. Levothyroxine is the treatment of choice; the recommended starting dose is 10 to 15 mcg/kg/day. The immediate goals of treatment are to rapidly raise the serum T4 above 130 nmol/L (10 ug/dL) and normalize serum TSH levels. Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome. Serum TSH and free T4 should be measured every 1-2 months in the first 6 months of life and every 3-4 months thereafter. In general, the prognosis

  12. Segmental approach to imaging of congenital heart disease.

    PubMed

    Lapierre, Chantale; Déry, Julie; Guérin, Ronald; Viremouneix, Loïc; Dubois, Josée; Garel, Laurent

    2010-03-01

    The segmental approach, which is widely used in the imaging work-up of congenital heart disease, consists of a three-step evaluation of the cardiac anatomy. In step 1, the visceroatrial situs is determined. Visceroatrial situs refers to the position of the atria in relation to the nearby anatomy (including the stomach, liver, spleen, and bronchi). Three different anatomic configurations may be observed: situs solitus (normal), situs inversus (inverted), or situs ambiguus (ambiguous). In step 2, the left- or rightward orientation of the ventricular loop is evaluated, and the positions of the ventricles are identified on the basis of their internal morphologic features. In step 3, the position of the great vessels is determined first, and any abnormalities are noted. Abnormalities in the origin of the great vessels, or conotruncal anomalies, are predominantly of three types: D-transposition (dextrotransposition), L-transposition (levotransposition), and D-malposition with double outlet right ventricle. Next, the relationships between the atria and ventricles and the ventricles and great vessels are determined at two levels: atrioventricular (concordant, discordant, ambiguous, double inlet, absence of right or left connection) and ventriculoarterial (concordant, discordant, double outlet). Last, a search is performed for any associated abnormalities of the cardiac chambers, septa, outflow tract, and great vessels. By executing these steps sequentially during image review, the radiologist can achieve a more accurate interpretation. Multiplanar reconstructions of cross-sectional image data obtained with computed tomography or magnetic resonance imaging are particularly useful for evaluating congenital heart disease.

  13. Congenital anomalies associated with congenital hypothyroidism.

    PubMed

    Stoll, C; Dott, B; Alembik, Y; Koehl, C

    1999-01-01

    The French national neonatal screening program for congenital hypothyroidism (CH) was initiated in 1978. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with congenital hypothyroidism (CH) and to compare it with the Northeastern France Birth Defect Monitoring System data from 1979 to 1996. Among 129 CH infants on whom adequate data were available, 20 infants (15.5%) had associated congenital anomalies. Eight out of 76 infants with persistent CH had ETAs (10.5%) whereas 12 out of 53 children with transient hypothyroidism had ETAs (22.6%, p < 0.05). Some additional anomalies were considerably more common than in the general population. Nine infants had congenital cardiac anomalies (6.9%). This rises the question if teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETAs.

  14. Role of right ventricular three-dimensional electroanatomic voltage mapping for arrhythmic risk stratification of patients with corrected tetralogy of Fallot or other congenital heart disease involving the right ventricular outflow tract.

    PubMed

    Drago, Fabrizio; Pazzano, Vincenzo; Di Mambro, Corrado; Russo, Mario Salvatore; Palmieri, Rosalinda; Silvetti, Massimo Stefano; Giannico, Salvatore; Leonardi, Benedetta; Amodeo, Antonio; Di Ciommo, Vincenzo Maria

    2016-11-01

    The post-surgical history of repaired congenital heart disease (rCHD), in particular tetralogy of Fallot (TOF), is often complicated by sudden death. Electrical myocardial abnormalities could be a substrate for malignant ventricular arrhythmias. 146 patients with TOF or other rCHD involving a subpulmonary right ventricle, considered to be at high arrhythmic risk, underwent right ventricular (RV) electroanatomic voltage mapping (EVM). Maps showed endocardial scars (<0.5mV) in all cases, mainly involving the RV outflow tract (n=141, 96.6%). In 28 cases (19.2%), other areas were involved. Total scar extension, expressed as % of total endocardial area, was significantly higher in patients with QRS ≥180ms [4.5% (±2.5) vs 2.8% (±2.4), p=0.014], left and right ventricular systolic dysfunction [4.5% (±3.2) vs 2.8% (±2.3), p=0.016 and 3.5% (±3.0) vs 2.6% (±1.9), p=0.03, respectively], premature ventricular contractions (PVCs) [3.2% (±2.6) vs 2.2% (±1.8), p<0.05], exercise-induced PVCs [3.8% (±2.4) vs 2.6% (±2.2), p=0.01], previous shunt [4.0% (±2.7) vs 2.6% (±2.2), p=0.01] and reintervention [4.2% (±3.2) vs 2.6% (±2.0), p=0.008]. Scar size also showed a positive correlation with duration of post-surgical follow-up (ρ=0.01), age at correction (ρ=0.01) and absolute QRS duration (ρ=0.05). Patients with rCHD involving the right ventricle show electrical scars with variable distribution, not necessarily matching with sites of surgical lesions. Scar extension correlates with some of the risk factors for life-threatening arrhythmias in CHD, such as prolonged QRS. Thus EVM could be considered an additional tool in the assessment of risk stratification in this particular population. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  15. Congenital Heart Disease in Adults

    MedlinePlus

    ... and genetics may play a role. Why congenital heart disease resurfaces in adulthood Some adults may find that ... in following adults with congenital heart disease. Congenital heart disease and pregnancy Women with congenital heart disease who ...

  16. Cavo-portal transposition in pediatric liver transplant recipients.

    PubMed

    Szymczak, Marek; Kaliciński, Piotr; Kwiatkowski, Wojciech; Broniszczak, Dorota; Stefanowicz, Marek

    2014-06-10

    Cavo-portal transposition (CPT) at liver transplantation (LTx) allows portal revascularization of the liver in recipients in whom portal system thrombosis does not allow performance of porto-portal anastomosis. The aim was to present the cases of 2 children who underwent LTx and CPT in our institution. 1. A 10-year-old boy, after Kasai procedure and living donor LTx, was qualified for retransplantation 9 years after first LTx complicated with late portal vein thrombosis, portal hypertension, hypersplenism, and multiple GI bleeding episodes, after splenectomy and meso-caval shunt preventing GI bleeding. At retransplant surgery, CPT was done. Actual follow-up was 40 months. Doppler ultrasound and angio CT show normal flow within the graft's portal vein. Biochemical parameters were within normal range. There was no bleeding from the gastrointestinal tract. 2. A 14-month-old child after Kasai procedure was qualified for living donor liver transplantation. During surgery, thrombosis of the recipient portal system was found, which was not diagnosed before. The CPT was done. There were no complications during the postoperative course. The actual follow-up was 32 months, and the patient is doing well, with normal liver and renal function, without hypersplenism or ascites. There was no gastrointestinal bleeding. Doppler ultrasound showed normal intrahepatic portal and arterial flow in the transplanted liver. Cavo-portal transposition is an important option in portal vein revascularization in liver transplant recipients without access to the portal system. Long-term observation of these 2 cases did not show any late problems (e.g., bleeding from the gastrointestinal tract, renal function, hyperammonemia, ascites) related to cavo-portal transposition.

  17. Congenital heart surgery: expected versus observed surgical performance according to the Aristotle complexity score.

    PubMed

    Photiadis, J; Sinzobahamvya, N; Arenz, C; Sata, S; Haun, C; Schindler, E; Asfour, B; Hraska, V

    2011-08-01

    The Aristotle score quantifies the complexity involved in congenital heart surgery. It defines surgical performance as complexity score times hospital survival. We studied how expected and observed surgical performance evolved over time. 2312 main procedures carried out between 2006 and 2010 were analyzed. The Aristotle basic score, corresponding hospital survival and related observed surgical performance were estimated. Expected survival was based on the mortality risks published by O'Brien and coauthors. Observed performance divided by expected performance was called the standardized ratio of performance. This should trend towards a figure above 100%. Survival rates and performance are given with 95% confidence intervals. The mean Aristotle basic score was 7.88 ± 2.68. 51 patients died: observed hospital survival was 97.8 % (97.1 %-98.3%). 115 deaths were anticipated: expected survival was 95.2% (93.5%-96.3%). Observed and expected surgical performance reached 7.71 (7.65-7.75) and 7.49 (7.37-7.59), respectively. Therefore the overall standardized ratio of performance was 102.94%. The ratio increased from 2006 (ratio = 101.60%) to 2009 (103.92%) and was 103.42% in 2010. Performance was high for the repair of congenital corrected transposition of the great arteries and ventricular septal defect (VSD) by atrial switch and Rastelli procedure, the Norwood procedure, repair of truncus arteriosus, aortic arch repair and VSD closure, and the Ross-Konno procedure, with corresponding standardized ratios of 123.30%, 116.83%, 112.99%, 110.86% and 110.38%, respectively. With a ratio of 82.87%, performance was low for repair of Ebstein's anomaly. The standardized ratio of surgical performance integrates three factors into a single value: procedure complexity, postoperative observed survival, and comparison with expected survival. It constitutes an excellent instrument for quality monitoring of congenital heart surgery programs over time. It allows an accurate comparison of

  18. Congenital myopathies

    PubMed Central

    Colombo, Irene; Scoto, Mariacristina; Manzur, Adnan Y.; Robb, Stephanie A.; Maggi, Lorenzo; Gowda, Vasantha; Cullup, Thomas; Yau, Michael; Phadke, Rahul; Sewry, Caroline; Jungbluth, Heinz

    2015-01-01

    Objective: To assess the natural history of congenital myopathies (CMs) due to different genotypes. Methods: Retrospective cross-sectional study based on case-note review of 125 patients affected by CM, followed at a single pediatric neuromuscular center, between 1984 and 2012. Results: Genetic characterization was achieved in 99 of 125 cases (79.2%), with RYR1 most frequently implicated (44/125). Neonatal/infantile onset was observed in 76%. At birth, 30.4% required respiratory support, and 25.2% nasogastric feeding. Twelve percent died, mainly within the first year, associated with mutations in ACTA1, MTM1, or KLHL40. All RYR1-mutated cases survived and did not require long-term ventilator support including those with severe neonatal onset; however, recessive cases were more likely to require gastrostomy insertion (p = 0.0028) compared with dominant cases. Independent ambulation was achieved in 74.1% of all patients; 62.9% were late walkers. Among ambulant patients, 9% eventually became wheelchair-dependent. Scoliosis of variable severity was reported in 40%, with 1/3 of (both ambulant and nonambulant) patients requiring surgery. Bulbar involvement was present in 46.4% and required gastrostomy placement in 28.8% (at a mean age of 2.7 years). Respiratory impairment of variable severity was a feature in 64.1%; approximately half of these patients required nocturnal noninvasive ventilation due to respiratory failure (at a mean age of 8.5 years). Conclusions: We describe the long-term outcome of a large cohort of patients with CMs. While overall course is stable, we demonstrate a wide clinical spectrum with motor deterioration in a subset of cases. Severity in the neonatal/infantile period is critical for survival, with clear genotype-phenotype correlations that may inform future counseling. PMID:25428687

  19. Leber Congenital Amaurosis

    MedlinePlus

    ... Campaign to End Blindness Other Ways to Fight Blindness Corporate Support Volunteer Take Action You are here ... confused with congenital and hereditary optic atrophy, cortical blindness, congenital stationary night blindness, flecked retina syndrome, and ...

  20. [Genetics of congenital cardiopathies].

    PubMed

    Moreno García, M; Gómez Rodríguez, M J; Barreiro Miranda, E

    2000-07-01

    Congenital heart malformations are the most common of all birth defects, affecting 0.5-1% of all live births. Some of these malformations are due to genetic anomalies. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. Mitochondrial inheritance and chromosomal anomalies can also be responsible for congenital heart malformations. Several genes for congenital heart defects have been identified. We review current knowledge on the genetic etiology of congenital heart disease.

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

    PubMed

    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.

  2. Performance Analysis of Transposition Models Simulating Solar Radiation on Inclined Surfaces: Preprint

    SciTech Connect

    Xie, Yu; Sengupta, Manajit

    2016-06-01

    Transposition models are widely used in the solar energy industry to simulate solar radiation on inclined photovoltaic (PV) panels. These transposition models have been developed using various assumptions about the distribution of the diffuse radiation, and most of the parameterizations in these models have been developed using hourly ground data sets. Numerous studies have compared the performance of transposition models, but this paper aims to understand the quantitative uncertainty in the state-of-the-art transposition models and the sources leading to the uncertainty using high-resolution ground measurements in the plane of array. Our results suggest that the amount of aerosol optical depth can affect the accuracy of isotropic models. The choice of empirical coefficients and the use of decomposition models can both result in uncertainty in the output from the transposition models. It is expected that the results of this study will ultimately lead to improvements of the parameterizations as well as the development of improved physical models.

  3. [The best of congenital heart disease in 2006].

    PubMed

    Rey, C

    2007-01-01

    As in previous years, the end of 2005 and the year 2006 were very fruitful in publications on congenital heart disease in children and adults. Interventional cardiology is still the object of randomised and non-randomised trials in adults and children. The closure of the foramen ovale is still popular in the context of a cerebrovascular accident whether or not associated with migraine. Several articles have studied the percutaneous closure of atrial septal defects: different devices, different indications, complications, comparison with surgical closure. Some ventricular septal defects can be occluded by the percutaneous approach. Another subject of interest has been theuse of the cutting balloon in peripheral pulmonary stenosis and the implantation of stents in obstruction of conduits between the right ventricle and pulmonary artery. The problem of arrhythmias in congenital heart disease is of increasing interest: the implantable automatic defibrillator, resynchronisation, thromboembolic complications, atrial flutter in babies. The outcome of congenital heart disease is a subject of great interest to paediatric cardiologists who follow up patients operated for transposition of the great arteries, tetralogy of Fallot or complex congenital heart disease by Fontan's procedure in their infancy. The results in women operated in their childhood are of particular interest: fertility and pregnancy in different cardiac lesions, complications during and after pregnancy.

  4. Differential sensitivity of letters, numbers, and symbols to character transpositions.

    PubMed

    Duñabeitia, Jon Andoni; Dimitropoulou, Maria; Grainger, Jonathan; Hernández, Juan Andrés; Carreiras, Manuel

    2012-07-01

    This study was designed to explore whether the human visual system has different degrees of tolerance to character position changes for letter strings, digit strings, and symbol strings. An explicit perceptual matching task was used (same-different judgment), and participants' electrophysiological activity was recorded. Materials included trials in which the referent stimulus and the target stimulus were identical or differed either by two character replacements or by transposing two characters. Behavioral results showed clear differences in the magnitude of the transposed-character effect for letters as compared with digit and symbol strings. Electrophysiological data confirmed this observation, showing an N2 character transposition effect that was only present for letter strings. An earlier N1 transposition effect was also found for letters but was absent for symbols and digits, whereas a later P3 effect was found for all types of string. These results provide evidence for a position coding mechanism that is specific to letter strings, that was most prominent in an epoch between 200 and 325 msec, and that operates in addition to more general-purpose position coding mechanisms.

  5. Organization of tn2610 containing two transposition modules.

    PubMed

    Takaya, Akiko; Watanabe, Masato; Yamamoto, Tomoko

    2006-04-01

    Transposon Tn2610, found in a conjugative plasmid from an Escherichia coli isolate recovered at a hospital in Chiba, Japan, in 1975, was completely sequenced. Tn2610 is 23,883 bp long and is bracketed by two transposition modules, a Tn1721-like module and a Tn21-derived module, which correspond, respectively, to the long inverted repeats IRa and IRb previously described for this transposon. Although both tnpA genes are intact, only that in the Tn21-derived module (IRb) functions in the transposition, while that in the Tn1721-derived module (IRa) cannot recognize the 38-bp imperfect repeat at the end of the IRb element. Both tnpR and res are present in IRa, while the tnpR gene of IRb is interrupted by the insertion of an IS26 insertion element. The intervening region, between the res site of the Tn1721 module and IS26, carries multiple integron-associated resistance genes within a Tn21 backbone, including a region identical to that found in the genome of Salmonella enterica serovar Typhimurium DT104. These findings suggest that Tn2610 originated from Tn1721 and Tn21, with extensive recombination events with other elements which have resulted in a complex mosaic structure.

  6. Foldback intercoil DNA and the mechanism of DNA transposition.

    PubMed

    Kim, Byung-Dong

    2014-09-01

    Foldback intercoil (FBI) DNA is formed by the folding back at one point of a non-helical parallel track of double-stranded DNA at as sharp as 180° and the intertwining of two double helixes within each other's major groove to form an intercoil with a diameter of 2.2 nm. FBI DNA has been suggested to mediate intra-molecular homologous recombination of a deletion and inversion. Inter-molecular homologous recombination, known as site-specific insertion, on the other hand, is mediated by the direct perpendicular approach of the FBI DNA tip, as the attP site, onto the target DNA, as the attB site. Transposition of DNA transposons involves the pairing of terminal inverted repeats and 5-7-bp tandem target duplication. FBI DNA configuration effectively explains simple as well as replicative transposition, along with the involvement of an enhancer element. The majority of diverse retrotransposable elements that employ a target site duplication mechanism is also suggested to follow the FBI DNA-mediated perpendicular insertion of the paired intercoil ends by non-homologous end-joining, together with gap filling. A genome-wide perspective of transposable elements in light of FBI DNA is discussed.

  7. Data transpositioning with content-based image retrieval

    NASA Astrophysics Data System (ADS)

    Manno, Michael J.; Hou, Daqing

    2017-05-01

    Currently, when data is collected, it is usually collected for a specific need or situation. This includes text and image data. When a new need or situation arises, the data collection process repeats, often without referencing the original data collected for previous situations. Data Transpositioning is a search methodology that leverages the context of a previous manual search process, to formulate a new automated search with new results. As a result, the data collection process for one situation, can quickly be applied to another situation, but with less user effort. Thus, a set of new results can quickly be constructed without the user manually revisiting each of the originating sources. In the case of Content-Based Image Retrieval, the idea is to identify the content attributes of an image, such as a particular color, shape or texture, and apply changes to the originating query, and return a new set of results with the similar attributes. Data Transpositioning has been successfully applied to the result sets that contain text. Our goal is to continue this research beyond text to solve more complex problems in other domains, especially when image data are involved.

  8. Congenital Diaphragmatic Hernia

    PubMed Central

    2012-01-01

    Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted. PMID:22214468

  9. Transposition of the Great Arteries in the Developing World: Surgery and Outcomes.

    PubMed

    Schidlow, David N; Jenkins, Kathy J; Gauvreau, Kimberlee; Croti, Ulisses A; Giang, Do Thi Cam; Konda, Rama K; Novick, William M; Sandoval, Nestor F; Castañeda, Aldo

    2017-01-03

    Little has been published regarding surgery for transposition of the great arteries (TGA) in the developing world. This study sought to identify patient characteristics, surgical interventions, institutional characteristics, risk factors for mortality, and outcomes among patients undergoing surgery for TGA in this setting. Developing world congenital heart surgical programs submitted de-identified data to a novel international collaborative database as part of a quality improvement project. We conducted a retrospective cohort study that included all cases of TGA with intact ventricular septum and TGA with ventricular septal defect performed from 2010 to 2013. Demographic, surgical, and institutional characteristics and their associations with in-hospital mortality were identified. There were 778 TGA operations performed at 26 centers, 480 (62%) for TGA with intact ventricular septum and 298 (38%) for TGA with ventricular septal defect. Most (80%) were single-stage arterial switch operations, but 20% were atrial baffling procedures (atrial switch operation) or 2-stage repairs (pulmonary artery band followed by arterial switch operation). Age at operation was >30 days in one-half of the cases and did not vary significantly with operation type. Survival was 85% and did not significantly vary with age at operation or operation type. Preceding septostomy was infrequently reported (16%) and was not associated with surgical mortality. Mortality was associated with lower World Health Organization weight/body mass index-for-age percentile and lower institutional volume of TGA repair. Surgical repair of TGA performed in the developing world is associated with an early survival of 85%. Type of surgical repair and age at operation varied considerably, but no associations with mortality were identified. In contrast, poor nutrition and small surgical volume were most strongly associated with mortality. Multicenter collaborative quality improvement efforts may benefit

  10. Prenatal diagnosis, hospital characteristics, and mortality in transposition of the great arteries.

    PubMed

    Lara, Diego A; Fixler, David E; Ethen, Mary K; Canfield, Mark A; Nembhard, Wendy N; Morris, Shaine A

    2016-09-01

    The role of prenatal diagnosis in reducing neonatal mortality from transposition of the great arteries (TGA) is controversial. Factors affected by prenatal diagnosis such as proximity at birth to a cardiac surgical center (CSC) and CSC volume are associated with mortality in congenital heart disease. The purpose of the study was to determine the associations between prenatal diagnosis, distance from birthplace to a CSC, CSC TGA volume, and neonatal mortality in patients with TGA. The Texas Birth Defects Registry was queried for all live born infants with TGA from 1999 to 2007. Four hundred sixty-eight cases of TGA were included. Forty-eight patients (10.3%) were prenatally diagnosed, and 20 patients died before age 28 days (4.3%). Neither prenatal diagnosis nor close proximity to a CSC at birth (p > 0.05) were associated with decreased mortality. Low CSC TGA volume was associated with increased mortality (p < 0.0002). Mortality at the CSCs with <5 patients per year was 9.6%; CSCs with 5 to 10 patients per year had 0% mortality, and those with >10 patients per year had 2.3% mortality. In multivariable logistic regression, only preterm birth (odds ratio, 7.05; 95% confidence interval, 4.13-12.05) and lower CSC volume (p < 0.001) were associated with neonatal mortality, although prenatal diagnosis attenuated the detrimental association of lower volume CSCs with higher mortality (p for interaction = 0.047). Lower CSC TGA patient volume was associated with higher neonatal mortality. Prenatal diagnosis may improve survival in lower volume CSCs. Birth Defects Research (Part A) 106:739-748, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  11. [The influence of autologous umbilical cord blood and donor blood on cytokine profile of newborns with transposition of great vessels].

    PubMed

    Tkachenko, Ia V; Vorobĭova, H M; Zhovnir, V A; Iemets', I M

    2012-01-01

    We investigated the serum levels ofproinflammatory and antiinflammatory cytokines (TNF-alpha, IL-1beta, IL-6, IL-8, IL-10) in newborns with transposition of the great arteries to whom during the defect correction the autologous umbilical cord blood and blood components were administered before the surgery and at the 1st, 3rd, 7th day after the surgery. We found that in the group of newborns to whom during the operation the blood components were used, the levels ofpro-inflammatory interleukins were high before surgery and at the Ist, 3rd and 7th day after it, but IL-10 was reduced. During the postoperative period, the newborns of this group had imbalance in the system cytokine, accompanied by clinical complications such as hyperthermia and pulmonary complications. Newborns with transposition of the great arteries who had the surgery using the autologous cord blood, had no significant abnormalities in serum levels cytokine before the surgery. The Ist day after surgery there was an increase in both proinflammatory and antiinflammatory cytokines. Up to 7 days the levels of interleukin gradually decreased. Newborns in this group had no postoperative complications, had an adequate immune response to the operation.

  12. A computer simulation of rotational acetabular osteotomy for dysplastic hip joint: does the optimal transposition of the acetabular fragment exist?

    PubMed

    Tsumura, Hiroshi; Kaku, Nobuhiro; Ikeda, Shinichi; Torisu, Takehiko

    2005-01-01

    For young patients who have early signs of coxarthrosis resulting from acetabular dysplasia, periacetabular osteotomies for correcting abnormal stress distribution can be useful for preventing the progression of the disease. However, it is difficult to confirm the optimal transposition of the osteotomized acetabular fragment. To deal with this problem, we devised a computer program to support preoperative planning. Hip images obtained by computed tomography were loaded into our program, and a three-dimensional voxel model was created. Then, osteotomy was simulated and the pressure distribution was analyzed with a rigid-body spring analysis (computational nonlinear mechanical analysis). The three-dimensional pressure distributions in seven dysplastic hips were evaluated before and after virtual rotational acetabular osteotomy. A peak pressure was calculated for every 5 degrees of rotation of the acetabular fragment. The peak pressure decreased gradually and increased again afterward, indicating the optimal transposition of the acetabular fragment. The postoperative peak pressure decreased to about 40% in the most improved case. This program allows the hip joint mechanics to be evaluated easily so that the advantages and disadvantages of various surgical methods can be examined biomechanically prior to surgery.

  13. [Congenital hypomagnesemia].

    PubMed

    Montaigne, David; Perimenis, Pierrette; Douillard, Claire; Wemeau, Jean-Louis; Vantyghem, Marie-Christine

    2004-11-06

    MORE PRECISE IDENTIFICATION: The progress in molecular genetics has led to better understanding of primitive magnesium deficiency. Transporters of this cation have been identified in the intestines and kidneys. The majority of congential hypomanesemia phenotypes have been correlated with a defect in magnesium transport. The primary deficiency of intestinal absorption of magnesium is responsible for hypomagnesemia and subsequent hypocalcemia. DEPENDING ON THE MECHANISM: Magnesium absorption defects in Henle's loop induce hypomagnesemia with hypercalciuria and nephrocalcinosis, autosomal dominant hypocalcemia or Bartter syndrome. In isolated dominant hypomagnesemia and Gitelman syndrome, an abnormality in the distal convoluted tubule explains the primitive hypomagnesemia, through renal leaking. Conversely, the mechanisms of recessive isolated hypomagnesemia remains unknown. ORIENTING GENETIC DIAGNOSIS: In a context of primitive hypomagnesemia, the clinical and biological presentation will orient genetic research leading to correct diagnosis. However, there are many border-line phenotypes and the pheno-genotype correlation is still imperfect.

  14. Congenital dystrophic medial rectus muscles

    PubMed Central

    Murthy, Ramesh

    2017-01-01

    We report two patients, one with congenital dystrophic medial rectus muscles and one with absence of the medial rectus muscles; in addition, one of them had absence of the lateral rectus muscles. While absence of the superior oblique and superior rectus has been more commonly reported in literature, especially with craniofacial syndromes, our patients were nonsyndromic. Considering the risk of anterior segment ischemia, correction of the large-angle exotropia was performed by horizontal rectus muscle surgery where possible, along with transfer of the superior oblique tendon to the superior part of the normal medial rectus muscle insertion area to create a tethering effect with a good outcome. PMID:28300745

  15. Short stature with congenital ichthyosis.

    PubMed

    Lakhani, Som J; Lakhani, Om J

    2015-12-09

    PIBIDS syndrome (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) is a variant of trichothiodystrophy. It is a rare form of autosomal recessive congenital ichthyosis. Short stature is a vital component of PIBIDS syndrome. We present the cases of two siblings in whom we diagnosed PIBIDS syndrome. On evaluation for short stature, they were found to have severe vitamin D deficiency, which on correction led to the patients having considerable gain in stature. With this case, we would also like to propose that vitamin D deficiency could be one of the treatable causes of short stature in PIBIDS syndrome.

  16. Anterior transposition of the inferior oblique. Anatomic assessment of the neurovascular bundle.

    PubMed

    Stager, D R; Weakley, D R; Stager, D

    1992-03-01

    Anterior transposition of the inferior oblique insertion has been described as an effective procedure for weakening the inferior oblique and for decreasing dissociated vertical deviation. It has been postulated that this occurs by converting the inferior oblique muscle from an elevator to a depressor. We found histologic, radiologic, and clinical evidence that anterior transposition of the inferior oblique muscle converts it to a depressor by means of the firm posterior attachment of the inferior oblique muscle at the site of its neurovascular bundle. This new functional insertion at the neurovascular bundle created by the anterior transposition allows for the depressor effect seen after this procedure.

  17. Sickle cell anemia and transposition of the great vessels.

    PubMed

    Hudson, R L; Castro, O; Spivak, J L; Sampson, C; Downing, J W

    1978-02-01

    A child with homozygous sickle cell disease and transposition of the great vessels had erythrocytosis associated with markedly increased plasma erythropoietin activity. Her clinical course was complicated by neurologic manifestations but not by recurrent sickle cell vasooculsive episodes. The fetal hemoglobin level which had been greater than 25% during the first two years of life gradually decreased to less than 10%. She died at 3 years of age of congestive heart failure and severe anemia. The only sickle cell painful crisis occurred during her terminal illness. It is likely that the high levels of fetal hemorglobin decreased sickling and thus allowed erythrocytosis to develop. Fetal hemoglobin may also have prevented frequent vaso-occlusive events despite the high hematocrit level.

  18. Lateral skull base chondroblastoma resected with facial nerve posterior transposition.

    PubMed

    Adnot, J; Langlois, O; Tollard, E; Crahes, M; Auquit-Auckbur, I; Marie, J-P

    2017-05-01

    Chondroblastoma is a rare tumor that can involve the temporal bone. Because it is a benign tumor, functional surgery must be proposed. We report a case of a patient with a massive chondroblastoma operated on with preservation of the facial nerve, and description of the surgical technique. A 37-year-old man presented with a 9-month history of a growing left pre-auricular mass and hearing loss. Neuroimaging showed an osteolytic mass invading the temporal bone and temporomandibular joint. Excision was performed via a transpetrosal and transcochlear approach with posterior transposition of the facial nerve. EMG monitoring was effective in preventing facial palsy. Four years later, no sign of recurrence was observed. Chondroblastoma is a locally aggressive tumor, especially when located in the petrous bone and temporomandibular joint. The suggested treatment is a complete excision. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  19. Basilic vein transposition in the forearm for secondary arteriovenous fistula.

    PubMed

    Glowinski, Jerzy; Glowinska, Irena; Malyszko, Jolanta; Gacko, Marek

    2014-04-01

    Radiocephalic (RC) fistulae remain the first choice access for hemodialysis. The antecubital fossa is recommended as the next site. However, for some patients a basilic vein can be used to create an arteriovenous (av) fistula. We report a series of patients where the forearm basilic vein served as an alternative conduit for secondary procedures. Over an 8-year period, 30 patients who had a failed RC fistula underwent a basilic vein transposition. The immediate results were satisfactory. All fistulas were successfully cannulated. Cumulative patency was 93% after 1 year, 78% after 2 years, and 55% after 3 years. No ischemic or infectious complications were noted during the study period. The use of the forearm basilic vein to create a native av fistula appears to be a good alternative to procedures in the antecubital fossa or upper arm, thus preserving more proximal veins for future use.

  20. Use of early remedial services in children with transposition of the great arteries.

    PubMed

    Calderon, Johanna; Bonnet, Damien; Pinabiaux, Charlotte; Jambaqué, Isabelle; Angeard, Nathalie

    2013-10-01

    To characterize the prevalence of use of early remedial services and its associated demographic, medical, and cognitive factors in children aged 4-6 years with corrected transposition of the great arteries (TGA). This was a prospective study of neurocognitive outcomes after TGA. Children underwent formal neuropsychological testing including general intelligence and a comprehensive battery of executive functions (EF) including motor and interference control, short-term memory, and working memory as well as cognitive flexibility. Parental reports on the children's behavior and EF were also evaluated. Demographic factors and preoperative, intraoperative, and postoperative factors as well as cognitive factors were examined according to the current use of remediation. Forty-five patients (67% male) and their parents participated in this study. Twenty-four (53%) patients were receiving remedial services. Male sex, a postnatal diagnosis of TGA, and a longer postoperative intensive care unit stay were significantly associated with use of remediation. Children receiving remediation had lower EF scores, had more severe EF deficits as observed by formal testing, and were rated as having more behavioral daily life difficulties. However, in the group without remediation, 13 children (43%) also displayed EF deficits rated as moderate to severe. Demographic and medical factors could help identify children at higher risk for neurocognitive delays. Evaluation of executive functioning from an early age may influence referral for remediation. Copyright © 2013 Mosby, Inc. All rights reserved.

  1. Intermediate-term survival and functional results after arterial repair for transposition of the great arteries.

    PubMed

    Lupinetti, F M; Bove, E L; Minich, L L; Snider, A R; Callow, L B; Meliones, J N; Crowley, D C; Beekman, R H; Serwer, G; Dick, M

    1992-03-01

    An assessment of late morbidity and mortality is essential before arterial repair can be considered truly corrective for patients with transposition of the great arteries. We describe the early and intermediate-term results in 126 patients who underwent arterial repair. Operation was performed at a median age of 6 days, with 76 patients operated on within the first 7 days of life. Coronary artery anatomy differed from the usual arrangement in 37 patients. Simultaneous procedures included ventricular septal defect closure (35) and repair of interrupted aortic arch (2) or coarctation (5). Hospital mortality was seven of 126 (5.5%), with three deaths among the most recent 100 patients (3%). There were one late, noncardiac death and one late death after reoperation. Reoperation for pulmonary artery stenosis was required in 10 of the first 63 patients (16%), all of whom underwent pulmonary artery reconstruction with separate patches for closure of the coronary excision sites. Of the last 63 patients, all of whom underwent pulmonary artery reconstruction with a single pantaloon-shaped pericardial patch, one (2%) required reoperation for pulmonary artery stenosis. Doppler flow studies and echocardiography performed in 115 of 119 surviving patients at a mean of 12 months after repair demonstrated normal left ventricular function, minimal left ventricular outflow gradients, and no more than trivial aortic regurgitation. Peak gradient across the right ventricular outflow tract was 19 +/- 3 mm Hg in patients with separate pulmonary artery patches and 5 +/- 2 mm Hg in those with a single pantaloon patch (p = 0.0001). Follow-up is 96% complete from 1 month to 8 years after operation (mean 2.5 years). The actuarial survival rate at 5 years, including operative mortality, was 92%. All patients are in sinus rhythm, and none requires antiarrhythmic medications. These data suggest that pulmonary artery reconstruction with a single pantaloon patch may be associated with a decreased

  2. Congenital dislocation of the patella - clinical case.

    PubMed

    Miguel Sá, Pedro; Raposo, Filipa; Santos Carvalho, Manuel; Alegrete, Nuno; Coutinho, Jorge; Costa, Gilberto

    2016-01-01

    Congenital patellar dislocation is a rare condition in which the patella is permanently dislocated and cannot be reduced manually. The patella develops normally as a sesamoid bone of the femur. This congenital dislocation results from failure of the internal rotation of the myotome that forms the femur, quadriceps muscle and extensor apparatus. It usually manifests immediately after birth, although in some rare cases, the diagnosis may be delayed until adolescence or adulthood. Early diagnosis is important, thereby allowing surgical correction and avoiding late sequelae, including early degenerative changes in the knee. A case of permanent dislocation of the patella is presented here, in a female child aged seven years.

  3. 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

    PubMed Central

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

    2017-01-01

    Introduction: 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. Objective: 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). Materials and Methods: 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. Results: 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. Conclusions: 3D-printed cardiac prototypes can radically assist decision-making, planning, and safe execution of complex congenital heart surgery by improving understanding of 3D anatomy and allowing anticipation of technical challenges. PMID:28566818

  4. 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.

    PubMed

    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.

  5. Congenital anomalies in Primorsky region.

    PubMed

    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.

  6. Anatomically corrected malposition of great arteries.

    PubMed Central

    Anderson, R H; Becker, A E; Losekoot, T G; Gerlis, L M

    1975-01-01

    Four anomalous hearts are described in which the great arteries arise in unusual fashion from their morphologically appropriate ventricles. This malformation, previously termed anatomically corrected transposition, is now termed anatomically corrected malposition. This is because, following the precedent of Van Praagh and his associates, we now reserve the term 'transposition' to describe the situation in which both great arteries arise from separate morphologically inappropriate ventricles. All the hearts examined exhibited atrioventricular concordance, I with viscero-atrial situs inversus, and 3 with situs solitus. However, there were considerable variations in ventricular morphology between the cases. Thus, 2 cases exhibited atresia of the right atrioventricular valve, and in the remaining 2 cases right and levt ventricular sinuses were both identified. Two of the cases also had pulmonary atresia, and coronary artery anomalies were present in all 4. The cases emphasize the fact that the term anatomically corrected malposition describes not a discrete anomaly but only a ventriculo-arterial relation, which is one of ventriculo-arterial concordance. Doubt has previously been cast upon the existence of this as an anatomical entity. It is concluded that the relation does indeed exist, and furthermore can coexist with all varieties of atrioventricular relations. It is suggested that the differing atrioventricular relations can be distinguished by usage of the terms 'concordant' or 'discordant' anatomically corrected malposition. Finally, it is emphasized that it is necessary to distinguish this anomaly, which in most cases presents with left-sided anterior aorta, from the left-sided anterior aorta more frequently encountered in classically corrected transposition'. Images PMID:1191424

  7. ‘End-stage’ heart failure therapy: potential lessons from congenital heart disease: from pulmonary artery banding and interatrial communication to parallel circulation

    PubMed Central

    Schranz, Dietmar; Akintuerk, Hakan; Voelkel, Norbert F

    2017-01-01

    The final therapy of ‘end-stage heart failure’ is orthotopic heart, lung or heart-lung transplantation. However, these options are not available for many patients worldwide. Therefore, novel therapeutical strategies are needed. Based on pathophysiological insights regarding (1) the long-term impact of an obstructive pulmonary outflow tract in neonates with congenitally corrected transposition of the great arteries, (2) the importance of a restrictive versus a non-restrictive atrial septum in neonates born with a borderline left ventricle and (3) the significance of both, a patent foramen ovale and/or open ductus arteriosus for survival of newborns with persistent pulmonary hypertension, the current review introduces some therapeutical strategies that may be applicable to selected patients with heart failure. These strategies include (1) reversible pulmonary artery banding in left ventricular-dilated cardiomyopathy with preserved right ventricular function, (2) the creation of restrictive interatrial communication to treat diastolic (systolic) heart failure, (3) atrioseptostomy or reverse Potts shunt in pulmonary arterial hypertension and (4) return to a fetal, parallel circulation by combining atrioseptostomy and reversed Potts shunt with or without placement of a bilateral pulmonary artery banding. While still being experimental, it is hoped that the procedures presented in the current overview will inspire future novel therapeutic strategies that may be applicable to selected patients with heart failure. PMID:28011759

  8. 'End-stage' heart failure therapy: potential lessons from congenital heart disease: from pulmonary artery banding and interatrial communication to parallel circulation.

    PubMed

    Schranz, Dietmar; Akintuerk, Hakan; Voelkel, Norbert F

    2017-02-15

    The final therapy of 'end-stage heart failure' is orthotopic heart, lung or heart-lung transplantation. However, these options are not available for many patients worldwide. Therefore, novel therapeutical strategies are needed. Based on pathophysiological insights regarding (1) the long-term impact of an obstructive pulmonary outflow tract in neonates with congenitally corrected transposition of the great arteries, (2) the importance of a restrictive versus a non-restrictive atrial septum in neonates born with a borderline left ventricle and (3) the significance of both, a patent foramen ovale and/or open ductus arteriosus for survival of newborns with persistent pulmonary hypertension, the current review introduces some therapeutical strategies that may be applicable to selected patients with heart failure. These strategies include (1) reversible pulmonary artery banding in left ventricular-dilated cardiomyopathy with preserved right ventricular function, (2) the creation of restrictive interatrial communication to treat diastolic (systolic) heart failure, (3) atrioseptostomy or reverse Potts shunt in pulmonary arterial hypertension and (4) return to a fetal, parallel circulation by combining atrioseptostomy and reversed Potts shunt with or without placement of a bilateral pulmonary artery banding. While still being experimental, it is hoped that the procedures presented in the current overview will inspire future novel therapeutic strategies that may be applicable to selected patients with heart failure.

  9. Congenital defects of sheep.

    PubMed

    Dennis, S M

    1993-03-01

    With increasing incrimination of viruses, plants, and drugs as causes of ovine congenital defects, concerted efforts are required to identify environmental teratogens. Expanding knowledge of congenital defects requires studying as many defective lambs as possible; recording and documenting; detailed diagnostic examinations; genetic analyses and chromosomal examinations, whenever possible; and field investigations. Adopting standardized classification, terminology, and diagnostic procedures should improve descriptions, diagnoses, and interdisciplinary exchange of information. That, in turn, should improve our knowledge of and diagnosis of congenital defects of sheep in the future. Finally, veterinary clinicians and diagnosticians are encouraged to take an interest in congenital defects and teratology.

  10. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

    ... 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 ...

  11. Aortic atresia and tricuspid atresia occurring in complete transposition of the great vessels.

    PubMed

    Butto, F; Margraf, L; Smith, G; Najmabadi, H

    1993-03-01

    A unique case of aortic atresia and tricuspid atresia associated with transposition of the great vessels is described in a newborn infant. The clinical, echocardiographic, and heart catheterization data are presented. The embryological and surgical implications are discussed.

  12. Doerr's theory of morphogenesis of arterial transposition in light of recent research.

    PubMed Central

    Chuaqui, B

    1979-01-01

    Doerr's theory of the morphogenesis of transposition is discussed with special reference to recent studies by Goor and co-workers and Anderson and associates. The views advanced by all these authors coincide in three points: (a) the description of the reorganisation process occurring at the arterial end of the embryonic heart (a process called by Doerr vectorial bulbus rotation); (b) the pathogenetic interpretation of transposition as the result of an arrest of vectorial bulbus rotation; (c) the recognition of a teratological series or spectrum of anomalies pathogenetically related to transposition. Vectorial bulbus rotation is explained mainly as the result of three largely simultaneous events; bulbar shift, bulbus torsion, and truncus torsion. The spectrum of anomalies related to transposition appears as a close-knit series. Bulbar retraction does not seem to be a necessary condition for the connection of the aorta to the left ventricle. PMID:465216

  13. Regulation of DNA transposition by CpG methylation and chromatin structure in human cells

    PubMed Central

    2013-01-01

    Background The activity of transposable elements can be regulated by different means. DNA CpG methylation is known to decrease or inhibit transpositional activity of diverse transposons. However, very surprisingly, it was previously shown that CpG methylation of the Sleeping Beauty (SB) transposon significantly enhanced transposition in mouse embryonic stem cells. Results In order to investigate the unexpected response of SB transposition to CpG methylation, related transposons from the Tc1/mariner superfamily, that is, Tc1, Himar1, Hsmar1, Frog Prince (FP) and Minos were tested to see how transposition was affected by CpG methylation. A significant increase of >20-fold in transposition of SB, FP and Minos was seen, whereas Tc1, Himar1 and Hsmar1 showed no difference in transposition upon CpG-methylation. The terminal inverted repeats (TIRs) of the SB, FP and Minos elements share a common structure, in which each TIR contains two functionally important binding sites for the transposase (termed the IR/DR structure). The group of IR/DR elements showed increased excision after CpG methylation compared to untreated transposon donor plasmids. We found that de novo CpG methylation is not required for transposition. A mutated FP donor plasmid with depleted CpG sites in both TIRs was as efficient in transposition as the wild-type transposon, indicating that CpG sites inside the TIRs are not responsible for altered binding of factors potentially modulating transposition. By using an in vivo one-hybrid DNA-binding assay in cultured human cells we found that CpG methylation had no appreciable effect on the affinity of SB transposase to its binding sites. However, chromatin immunoprecipitation indicated that CpG-methylated transposon donor plasmids are associated with a condensed chromatin structure characterized by trimethylated histone H3K9. Finally, DNA compaction by protamine was found to enhance SB transposition. Conclusions We have shown that DNA CpG methylation

  14. Regulation of DNA transposition by CpG methylation and chromatin structure in human cells.

    PubMed

    Jursch, Tobias; Miskey, Csaba; Izsvák, Zsuzsanna; Ivics, Zoltán

    2013-05-15

    The activity of transposable elements can be regulated by different means. DNA CpG methylation is known to decrease or inhibit transpositional activity of diverse transposons. However, very surprisingly, it was previously shown that CpG methylation of the Sleeping Beauty (SB) transposon significantly enhanced transposition in mouse embryonic stem cells. In order to investigate the unexpected response of SB transposition to CpG methylation, related transposons from the Tc1/mariner superfamily, that is, Tc1, Himar1, Hsmar1, Frog Prince (FP) and Minos were tested to see how transposition was affected by CpG methylation. A significant increase of >20-fold in transposition of SB, FP and Minos was seen, whereas Tc1, Himar1 and Hsmar1 showed no difference in transposition upon CpG-methylation. The terminal inverted repeats (TIRs) of the SB, FP and Minos elements share a common structure, in which each TIR contains two functionally important binding sites for the transposase (termed the IR/DR structure). The group of IR/DR elements showed increased excision after CpG methylation compared to untreated transposon donor plasmids. We found that de novo CpG methylation is not required for transposition. A mutated FP donor plasmid with depleted CpG sites in both TIRs was as efficient in transposition as the wild-type transposon, indicating that CpG sites inside the TIRs are not responsible for altered binding of factors potentially modulating transposition. By using an in vivo one-hybrid DNA-binding assay in cultured human cells we found that CpG methylation had no appreciable effect on the affinity of SB transposase to its binding sites. However, chromatin immunoprecipitation indicated that CpG-methylated transposon donor plasmids are associated with a condensed chromatin structure characterized by trimethylated histone H3K9. Finally, DNA compaction by protamine was found to enhance SB transposition. We have shown that DNA CpG methylation upregulates transposition of IR

  15. Brain maturation is delayed in infants with complex congenital heart defects

    PubMed Central

    Licht, Daniel J.; Shera, David M.; Clancy, Robert R.; Wernovsky, Gil; Montenegro, Lisa M.; Nicolson, Susan C.; Zimmerman, Robert A.; Spray, Thomas L.; Gaynor, J. William; Vossough, Arastoo

    2009-01-01

    Objective Small head circumferences and white matter injury in the form of periventricular leukomalacia have been observed in populations of infants with severe forms of congenital heart defects. This study tests the hypothesis that congenital heart defects delay in utero structural brain development. Methods Full-term infants with hypoplastic left heart syndrome or transposition of the great arteries were prospectively evaluated with preoperative brain magnetic resonance imaging. Patients with independent risk factors for abnormal brain development (shock, end-organ injury, or intrauterine growth retardation) were excluded. Outcome measures included head circumferences and the total maturation score on magnetic resonance imaging. Total maturation score is a previously validated semiquantitative anatomic scoring system used to assess whole brain maturity. The total maturation score evaluates 4 parameters of maturity: (1) myelination, (2) cortical infolding, (3) involution of glial cell migration bands, and (4) presence of germinal matrix tissue. Results The study cohort included 29 neonates with hypoplastic left heart syndrome and 13 neonates with transposition of the great arteries at a mean gestational age of 38.9 ± 1.1 weeks. Mean head circumference was 1 standard deviation below normal. The mean total maturation score for the cohort was 10.15 ± 0.94, significantly lower than reported normative data in infants without congenital heart defects, corresponding to a delay of 1 month in structural brain development. Conclusion Before surgery, term infants with hypoplastic left heart syndrome and transposition of the great arteries have brains that are smaller and structurally less mature than expected. This delay in brain development may foster susceptibility to periventricular leukomalacia in the preoperative, intraoperative, and postoperative periods. PMID:19258059

  16. [Anterior radial nerve transposition in humerus midshaft fractures: anatomic and clinical study].

    PubMed

    El Ayoubi, L; Karmouta, A; Roussignol, X; Auquit-Auckbur, I; Milliez, P-Y; Duparc, F

    2003-10-01

    Plate fixation of midshaft humerus fractures raises the risk of radial nerve injury. Anterior transposition of the radial nerve has been proposed as a possible solution but few reports have been published. The purpose of the present study was to validate the effect of transposition on the transposed radial nerve and its branches. We conducted an anatomic study on 10 cadavers. The length of the radial nerve between 2 anatomic landmarks was determined before and after transposition and plate fixation. A clinical evaluation was performed four years after surgery in 6 patients with midshaft humerus fractures treated with plate fixation after radial nerve transposition. The anatomic study demonstrated a mean gain of 11 mm in the length of the radial nerve with no problem for the transposed nerve or its branches. Clinically, osteosynthesis was facilitated and tension on the nerve was reduced. These 2 complementary studies demonstrated the releasing effect of transposition on the radial nerve and the facilitated osteosynthesis reported by others. The benefit of transposition is particularly important when bone fixation is particularly difficult to achieve without risk of injuring the radial nerve. Transposition does however require an extensive dissection, and the patient must be informed. The ideal indication for anterior transposition of the radial nerve is an oblique fracture of the mid-third to lower-third of the humeral shaft with radial palsy at onset. A certain degree of comminution facilitates the technique. Indications for this technique could however be widened to include cases of difficult osteosynthesis where the option to transpose the radial nerve is always a peroperative decision.

  17. Implantation of Total Artificial Heart in Congenital Heart Disease

    PubMed Central

    Adachi, Iki; Morales, David S. L.

    2014-01-01

    In patients with end-stage heart failure (HF), a total artificial heart (TAH) may be implanted as a bridge to cardiac transplant. However, in congenital heart disease (CHD), the malformed heart presents a challenge to TAH implantation. In the case presented here, a 17 year-old patient with congenital transposition of the great arteries (CCTGA) experienced progressively worsening HF due to his congenital condition. He was hospitalized multiple times and received an implantable cardioverter defibrillator (ICD). However, his condition soon deteriorated to end-stage HF with multisystem organ failure. Due to the patient's grave clinical condition and the presence of complex cardiac lesions, the decision was made to proceed with a TAH. The abnormal arrangement of the patient's ventricles and great arteries required modifications to the TAH during implantation. With the TAH in place, the patient was able to return home and regain strength and physical well-being while awaiting a donor heart. He was successfully bridged to heart transplantation 5 months after receiving the device. This report highlights the TAH is feasible even in patients with structurally abnormal hearts, with technical modification. PMID:25078059

  18. Implantation of total artificial heart in congenital heart disease.

    PubMed

    Adachi, Iki; Morales, David S L

    2014-07-18

    In patients with end-stage heart failure (HF), a total artificial heart (TAH) may be implanted as a bridge to cardiac transplant. However, in congenital heart disease (CHD), the malformed heart presents a challenge to TAH implantation. In the case presented here, a 17 year-old patient with congenital transposition of the great arteries (CCTGA) experienced progressively worsening HF due to his congenital condition. He was hospitalized multiple times and received an implantable cardioverter defibrillator (ICD). However, his condition soon deteriorated to end-stage HF with multisystem organ failure. Due to the patient's grave clinical condition and the presence of complex cardiac lesions, the decision was made to proceed with a TAH. The abnormal arrangement of the patient's ventricles and great arteries required modifications to the TAH during implantation. With the TAH in place, the patient was able to return home and regain strength and physical well-being while awaiting a donor heart. He was successfully bridged to heart transplantation 5 months after receiving the device. This report highlights the TAH is feasible even in patients with structurally abnormal hearts, with technical modification.

  19. Double Augmented Vertical Rectus Transposition for Large-Angle Esotropia Due to Sixth Nerve Palsy.

    PubMed

    Singh, Priyanka; Vijayalakshmi, Perumalsamy; Shetty, Shashikant; Vora, Priyanka; Kalwaniya, Suresh

    2016-11-01

    To study the binocular alignment and ocular motility in patients with large-angle esotropia due to sixth nerve palsy treated with double augmented vertical recti transposition. This was a prospective interventional study. Fifteen patients with non-resolving sixth nerve palsy who underwent surgical correction were included in the study. Fourteen patients also underwent an additional medial rectus recession. Two patients with an associated small vertical deviation had a selective augmentation of one vertical rectus muscle. Binocular alignment, ocular motility, duction limitation, improvement in head posture, induced vertical deviations, and field of diplopia-free binocular single vision (when possible) were analyzed. Successful outcome was defined as a residual horizontal deviation of 10 prism diopters (PD) or less with no vertical deviation at final follow-up (6 months). The double augmented Hummelsheim procedure improved esotropia from 58.3 ± 10.8 PD preoperatively to 7.2 ± 5.1 PD postoperatively (P = .001). Three (20%) patients had residual deviation of greater than 10 PD, of which 1 patient had diplopia and was treated with prisms. Postoperative binocular field of vision was performed in 6 patients, the mean of which was 20° for abduction and 45° for adduction. Three of 6 patients had elimination of face turn and the rest had residual head posture of less than 5°. Two patients had an induced vertical deviation of less than 4 PD. In patients who had selective augmentation, the vertical deviation was completely corrected. The patients operated on with double augmentation of the Hummelsheim procedure combined with medial rectus recession had reduced mean primary esotropia and improved diplopia-free field of vision postoperatively. [J Pediatr Ophthalmol Strabismus. 2016;53(6):369-374.]. Copyright 2016, SLACK Incorporated.

  20. Inducible Transposition of a Heat-Activated Retrotransposon in Tissue Culture.

    PubMed

    Masuta, Yukari; Nozawa, Kosuke; Takagi, Hiroki; Yaegashi, Hiroki; Tanaka, Keisuke; Ito, Tasuku; Saito, Hideyuki; Kobayashi, Hisato; Matsunaga, Wataru; Masuda, Seiji; Kato, Atsushi; Ito, Hidetaka

    2016-12-23

    A transposition of a heat-activated retrotransposon named ONSEN required compromise of a small RNA-mediated epigenetic regulation that includes RNA-directed DNA methylation (RdDM) machinery after heat treatment. In the current study, we analyzed the transcriptional and transpositional activation of ONSEN to better understand the underlying molecular mechanism involved in the maintenance and/or induction of transposon activation in plant tissue culture. We found the transposition of heat-primed ONSEN during tissue culture independently of RdDM mutation. The heat activation of ONSEN transcripts was not significantly up-regulated in tissue culture compared with that in heat-stressed seedlings, indicating that the transposition of ONSEN was regulated independently of the transcript level. RdDM-related genes were up-regulated by heat stress in both tissue culture and seedlings. The level of DNA methylation of ONSEN did not show any change in tissue culture, and the amount of ONSEN-derived small RNAs was not affected by heat stress. The results indicated that the transposition of ONSEN was regulated by an alternative mechanism in addition to the RdDM-mediated epigenetic regulation in tissue culture. We applied the tissue culture-induced transposition of ONSEN to Japanese radish, an important breeding species of the family Brassicaceae. Several new insertions were detected in a regenerated plant derived from heat-stressed tissues and its self-fertilized progeny, revealing the possibility of molecular breeding without genetic modification.

  1. The outflow tract in transposition of the great arteries: an anatomic and morphologic study.

    PubMed

    Lalezari, Shirin; Mahtab, Edris A F; Bartelings, Margot M; Wisse, Lambertus J; Hazekamp, Mark G; Gittenberger-de Groot, Adriana C

    2009-10-01

    Neoaortic root dilatation is observed after the arterial switch operation for transposition of the great arteries. Although structural differences in the vessel wall of these patients may be of influence, we hypothesize that a histomorphologic difference in composition and embedding of the fibrous annulus in transposition of the great arteries may play a role in neoaortic root dilatation. Two normal human hearts and two unoperated human hearts with transposition of the great arteries, 1 day postnatal, were studied. Histologic sections stained for collagen, myocardium, and elastin were prepared, and three-dimensional reconstructions of the outflow tracts were made to enable comparison of the morphologic structures between the normal hearts and those with transposition of the great arteries. The amount of collagen in the arterial roots was diminished in hearts with transposition of the great arteries compared with the normal hearts. In addition, the anchorage and embedding of both arterial roots in the myocardium was less extensive in transposition of the great arteries. The changed position of the arteries in the malformed hearts results in less support for the roots from the surrounding atrioventricular myocardium. The combination of the observed histomorphologic differences in amount of collagen and myocardial support may be an explanation for the neoaortic root dilatation observed after the arterial switch operation. The developmental background of the observed deficient fibrous annulus formation may originate from an epicardial problem.

  2. Alternative Transposition Generates New Chimeric Genes and Segmental Duplications at the Maize p1 Locus

    PubMed Central

    Wang, Dafang; Yu, Chuanhe; Zuo, Tao; Zhang, Jianbo; Weber, David F.; Peterson, Thomas

    2015-01-01

    The maize Ac/Ds transposon family was the first transposable element system identified and characterized by Barbara McClintock. Ac/Ds transposons belong to the hAT family of class II DNA transposons. We and others have shown that Ac/Ds elements can undergo a process of alternative transposition in which the Ac/Ds transposase acts on the termini of two separate, nearby transposons. Because these termini are present in different elements, alternative transposition can generate a variety of genome alterations such as inversions, duplications, deletions, and translocations. Moreover, Ac/Ds elements transpose preferentially into genic regions, suggesting that structural changes arising from alternative transposition may potentially generate chimeric genes at the rearrangement breakpoints. Here we identified and characterized 11 independent cases of gene fusion induced by Ac alternative transposition. In each case, a functional chimeric gene was created by fusion of two linked, paralogous genes; moreover, each event was associated with duplication of the ∼70-kb segment located between the two paralogs. An extant gene in the maize B73 genome that contains an internal duplication apparently generated by an alternative transposition event was also identified. Our study demonstrates that alternative transposition-induced duplications may be a source for spontaneous creation of diverse genome structures and novel genes in maize. PMID:26434719

  3. Outcomes of Adult Patients With Congenital Heart Disease After Heart Transplantation: Impact of Disease Type, Previous Thoracic Surgeries, and Bystander Organ Dysfunction.

    PubMed

    Lewis, Matthew; Ginns, Jonathon; Schulze, Christian; Lippel, Matt; Chai, Paul; Bacha, Emile; Mancini, Donna; Rosenbaum, Marlon; Farr, Maryjane

    2016-07-01

    Adults with congenital heart disease (CHD) are at increased risk for adverse outcomes after heart transplantation (HT). However, small cohorts have constrained the identification of factors associated with poor prognosis. We hypothesized that number of sternotomies and bystander organ dysfunction would be associated with an increased risk for early death after HT. We performed a retrospective observational study of all adult CHD patients who underwent HT at our institution from January 1997 to January 2014. Forty-eight adult CHD patients were followed for a mean of 5 years. Diagnoses included tetralogy of Fallot/pulmonary atresia/double-outlet right ventricle in 15 (31%), D-transposition of the great arteries (TGA) in 10 (21%), tricuspid atresia/double-inlet left ventricle in 9 (19%), ventricular or atrial septal defect in 4 (8%), heterotaxy in 3 (6%), congenitally corrected TGA in 2 (4%), and other diagnoses in 5 (10%). Survival at both 1 and 5 years was 77%. According to multivariate analysis, ≥3 sternotomies (hazard ratio [HR] 8.5; P = .02) and Model for End-Stage Liver Disease Excluding International Normalized Ratio (MELD-XI) score >18 (HR 6.2; P = .01) were significant predictors of mortality. Failed Fontan surgery was not a significant predictor of death (P = .19). In our cohort of adult CHD patients undergoing HT, ≥3 sternotomies and MELD-XI score >18 were significantly associated with death. These findings may be important in patient selection and decision regarding tolerable number of CHD surgeries before considering HT. Copyright © 2016. Published by Elsevier Inc.

  4. Congenital heat disease

    SciTech Connect

    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.

  5. Congenital patellar syndrome.

    PubMed

    Jerome, J Terrence Jose; Varghese, M; Sankaran, B

    2009-01-01

    Congenital patellar syndrome is bilateral isolated absence of patella. Congenital patellar aplasia or hypoplasia associated with genetic disorders belongs to a clinically diverse and genetically heterogeneous group of lower limb malformations. Absence of patella as an isolated anomaly is extremely rare and we discuss such a case in a 9-year-old boy.

  6. Multifocal Congenital Hemangiopericytoma.

    PubMed

    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.

  7. Current diagnosis and treatments for critical congenital heart defects

    PubMed Central

    ZENG, ZHANDONG; ZHANG, HONGWEI; LIU, FENGLI; ZHANG, NING

    2016-01-01

    Congenital heart defects (CHD) affect approximately 7% of infants, and account for 3% of all infant deaths. CHD is most often caused by the defects associated with ductus arteriosus, which is a vessel that usually closes shortly after birth. The types of CHD include tetralogy of fallot, hypoplastic left heart syndrome, pulmonary atresia, total anomalous pulmonary venous return, transposition of great arteries, tricuspid atresia and truncus arteriosus. There are some risk factors that can increase the chance of a fetus developing CHD such as prematurity, an existing CHD in a first-degree relative, genetic syndromes, infections in utero, maternal drug consumptions and disorders. CHD is diagnosed is through different techniques including pulse oximetry, echocardiograms and physical exams. In this review, we examined the current incidence of CHD, the risk factors associated with CHD, the current methods of diagnosis and surgical options used to repair the defects. PMID:27168772

  8. [Open window thoracostomy and muscle flap transposition for thoracic empyema].

    PubMed

    Nakajima, Y

    2010-07-01

    Open window thoracostomy for thoracic empyema: Open window thoracostomy is a simple, certain and final drainage procedure for thoracic empyema. It is most useful to drain purulent effusion from empyema space, especially for cases with broncho-pleural fistulas, and to clean up purulent necrotic debris on surface of empyema sac. For changing of packing gauzes in empyema space through a window once or twice every day after this procedure, thoracostomy will have to be made on the suitable position to empyema space. Usually skin incision will be layed along the costal bone just at the most expanded position of empyema. Following muscle splitting to thoracic wall, a costal bone just under the incision will be removed as 8-10 cm as long, and opened the empyema space through a costal bed. After the extension of empyema space will be preliminarily examined through a primary window by a finger or a long forceps, it will be decided costal bones must be removed how many (usually 2 or 3 totally) and how long (6-8 cm) to make a window up to 5 cm in diameter. Thickened empyema wall will be cut out just according to a window size, and finally skin edge and empyema wall will be sutured roughly along circular edge. Muscle flap transposition for empyema space: Pediclued muscle flap transposition is one of space-reducing operations for (chronic) empyema Usually this will be co-performed with other several procedures as curettages on empyema surface, closure of bronchopleural fistula and thoracoplasty. This is radically curable for primarily non fistulous empyema or secondarily empyema after open window thoracostomy done for fistula. Furthermore this is less invasive than other radical operations as like pleuro-pneumonectomy, decortication or air-plombage for empyema. There are 2 important points to do this technique. One is a volume of muscle flap and another is good blood flow in flap. The former suitable muscle volume is need to impact empyema space or to close fistula, and the

  9. Development of a new "GFP hop-on assay" system for insertion sequence transposition in Bacillus subtilis 168 using IS4Bsu1 from B. subtilis (natto).

    PubMed

    Takahashi, Kiwamu; Chibazakura, Taku; Sekine, Yasuhiko; Yoshikawa, Hirofumi

    2007-04-06

    While most studies involving transposition have focused on analyzing the detailed mechanisms of transposition, the cellular conditions under which transposition occurs remain to be elucidated. In Escherichia coli, papillation assay is a powerful tool for transpositional analysis and the isolation of mutants affecting transposition. On the other hand, while our assay system based on the E. coli papillation assay can detect transpositional events in Bacillus subtilis 168, it is not suitable for quantitating transposition frequency because blue papillae on the transposant colonies of B. subtilis are not countable. We succeeded in developing a new "GFP hop-on assay" system that facilitates quantitative detection of the transposition of the FACS-optimized GFP mutant gene. Our assay system is a step forward in understanding the cellular conditions under which transposition occurs.

  10. Mechanical right ventricular dyssynchrony in patients after atrial switch operation for transposition of the great arteries.

    PubMed

    Chow, Pak-Cheong; Liang, Xue-Cun; Lam, Wendy W M; Cheung, Eddie W Y; Wong, Kin-Tak; Cheung, Yiu-Fai

    2008-03-15

    Recent data suggest potential benefits of cardiac resynchronization therapy in the management of right ventricular (RV) dysfunction in congenital heart disease. The aim of this study was to determine the nature, prevalence, and functional implications of mechanical RV dyssynchrony in patients after Senning or Mustard procedures for transposition of the great arteries. Twenty-eight patients (mean age 21.1 +/- 3.5 years) at 19.9 +/- 3.2 years after atrial switch operations and 29 healthy controls were studied. The times from the onset of QRS to peak systolic strain (T epsilon) at the base of and the mid RV free wall, the ventricular septum (VS), and the left ventricular (LV) free wall were determined using tissue Doppler echocardiography. Intraventricular mechanical delay was defined as Delta T epsilon(RV-VS) and interventricular mechanical delay as Delta T epsilon(RV-LV). In patients, the magnitude of RV intra- and interventricular mechanical delay was correlated with cardiac magnetic resonance-derived RV volumes and ejection fractions (n = 26) and treadmill exercise testing parameters (n = 20). Compared with controls, patients had significantly longer Delta T epsilon(RV-VS) (48.1 +/- 50.9 vs 17.0 +/- 16.1 ms, p <0.001) and Delta T epsilon(RV-LV) (63.1 +/- 49.5 vs 19.0 +/- 12.9, p <0.001). Nine patients (32%) exhibited RV dyssynchrony (Delta T epsilon(RV-VS) >49 ms, control mean +/- 2SD), and 16 patients (57%) showed interventricular dyssynchrony (Delta T epsilon(RV-LV) >45 ms). In patients, RV intra- and interventricular mechanical delay was correlated negatively with the RV ejection fraction (both r = -0.42, p = 0.03) and percentage predicted maximum oxygen consumption (r = -0.50, p = 0.03, and r = -0.52, p = 0.02, respectively) and positively with minute ventilation/carbon dioxide production slope (r = 0.49, p = 0.03, and r = 0.56, p = 0.01, respectively). In conclusion, RV dyssynchrony is common in young adults after atrial switch operations and is associated

  11. Flood Frequency Analyses Using a Modified Stochastic Storm Transposition Method

    NASA Astrophysics Data System (ADS)

    Fang, N. Z.; Kiani, M.

    2015-12-01

    Research shows that areas with similar topography and climatic environment have comparable precipitation occurrences. Reproduction and realization of historical rainfall events provide foundations for frequency analysis and the advancement of meteorological studies. Stochastic Storm Transposition (SST) is a method for such a purpose and enables us to perform hydrologic frequency analyses by transposing observed historical storm events to the sites of interest. However, many previous studies in SST reveal drawbacks from simplified Probability Density Functions (PDFs) without considering restrictions for transposing rainfalls. The goal of this study is to stochastically examine the impacts of extreme events on all locations in a homogeneity zone. Since storms with the same probability of occurrence on homogenous areas do not have the identical hydrologic impacts, the authors utilize detailed precipitation parameters including the probability of occurrence of certain depth and the number of occurrence of extreme events, which are both incorporated into a joint probability function. The new approach can reduce the bias from uniformly transposing storms which erroneously increases the probability of occurrence of storms in areas with higher rainfall depths. This procedure is iterated to simulate storm events for one thousand years as the basis for updating frequency analysis curves such as IDF and FFA. The study area is the Upper Trinity River watershed including the Dallas-Fort Worth metroplex with a total area of 6,500 mi2. It is the first time that SST method is examined in such a wide scale with 20 years of radar rainfall data.

  12. Determinants for hairpin formation in Tn10 transposition

    PubMed Central

    Allingham, John S.; Wardle, Simon J.; Haniford, David B.

    2001-01-01

    Tn10 transposition involves the formation of a hairpin intermediate at the transposon termini. Here we show that hairpin formation exhibits more stringent DNA sequence requirements at the terminal two base pairs than either transpososome assembly or first strand nicking. We also observe a significant DNA distortion at the terminal base pairs upon transpososome assembly by chemical nuclease footprinting. Interest ingly, mutations at these positions do not necessarily inhibit the formation of the distortion. However, it remains a possibility that the inhibitory effect of these mutations is due to a defect in protein–DNA interactions subsequent to this deformation. Terminal base pair mutations also inhibited strand transfer, providing evidence that transposase interactions with the terminal residues on both ‘transferred’ and ‘non-transferred’ strands are important for hairpin formation. We also demonstrate that mutation of a highly conserved tyrosine residue that is a component of the YREK motif, Y285, results in a phenotype comparable to that of the terminal base pair mutations. In contrast, a mutation at another conserved position, W265, is shown to relax the specificity of the hairpin formation reaction. PMID:11387226

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

    SciTech Connect

    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.

  14. The peripheral cannulation technique in minimally invasive congenital cardiac surgery.

    PubMed

    Vida, Vladimiro L; Tessari, Chiara; Putzu, Alessandro; Tiberio, Ivo; Guariento, Alvise; Gallo, Michele; Stellin, Giovanni

    2016-08-19

    Congenital minimally invasive cardiac surgery has gained wide acceptance thanks to its favorable outcomes. The introduction of peripheral cannulation for cardiopulmonary bypass further reduces surgical trauma by decreasing surgical access and allowing the spectrum of surgical access for the correction of simple congenital heart defects to be widened. Right internal jugular vein percutaneous cannulation, together with the direct surgical cannulation of femoral vessels, proves to be a safe and effective tool in patients with body weight above 15 kg.

  15. Nonketotic hyperosmolar coma associated with splenic rupture in congenital afibrinogenemia.

    PubMed

    Akcakus, Mustafa; Patiroglu, Turkan; Keskin, Mehmet; Koklu, Esat; Gozukucuk, Ali

    2004-10-01

    Nonketotic hyperosmolar coma is uncommon in children. Splenic rupture in congenital afibrinogenemia is also a rare event. The authors described a 5-year-old girl with congenital afibrinogenemia who presented with nonketotic hyperosmolar coma associated with spontaneous splenic rupture. Management consisted of correction of the nonketotic hyperosmolar condition and increasing fibrinogen concentration by blood products, followed by splenectomy, resulting in the survival of the patient.

  16. Congenital anomalies associated with hypothyroidism.

    PubMed Central

    Bamforth, J S; Hughes, I; Lazarus, J; John, R

    1986-01-01

    Seven of the 34 infants identified through the Welsh Hypothyroid Screening Programme have additional congenital abnormalities. Two infants have a previously undescribed syndrome, two have chromosomal abnormalities, two have congenital heart disease, and one has a myelomeningocoele. Congenital hypothyroidism often seems to be associated with other congenital abnormalities. PMID:3729532

  17. A prospective, randomized study analyzing sartorius transposition following inguinal-femoral lymphadenectomy.

    PubMed

    Judson, Patricia L; Jonson, Amy L; Paley, Pamela J; Bliss, Robin L; Murray, Karuna P; Downs, Levi S; Boente, Matthew P; Argenta, Peter A; Carson, Linda F

    2004-10-01

    Based on the reduced morbidity seen in our retrospective study, we undertook a prospective, randomized trial to determine whether transposition of the sartorius muscle improves post-operative morbidity in women with squamous cell carcinoma of the vulva undergoing inguinal-femoral lymphadenectomy. Patients with squamous carcinoma of the vulva requiring inguinal-femoral lymphadenectomy were randomized to undergo sartorius transposition or not. All patients received perioperative antibiotics, DVT prophylaxis, and closed suction surgical site drainage. Outcomes assessed include wound cellulitis, wound breakdown, lymphocyst formation, lymphedema, and/or rehospitalization. Cohorts were compared using Fisher's exact test. Baseline characteristics were compared using Student's t test or Fischer's exact test as appropriate. Logistic regression was used to assess the impact of sartorius transposition, after adjusting for other factors. From June 1996 to December 2002, 61 patients underwent 99 inguinal-femoral lymphadenectomies, 28 with sartorius transposition, and 33 without. The mean (SD) age for controls and patients undergoing sartorius transposition was 63.5 (15.2) and 73.8 (13.7) years, respectively (P < 0.05). There were no statistically significant differences in BSA, tobacco use, co-morbid medical conditions, past surgical history, medication use, size of incision, duration of surgery, number of positive lymph nodes, pathologic stage, pathologic grade, pre- or postoperative hemoglobin, or length of hospitalization. There were no statistically significant differences in the incidence of wound cellulitis, wound breakdown, lymphedema, or rehospitalization. The incidence of lymphocyst formation was increased in the sartorius transposition group. After adjusting for age, however, the groups appeared similar. Sartorius transposition after inguinal-femoral lymphadenectomy does not reduce postoperative wound morbidity.

  18. Genetics of congenital hypothyroidism

    PubMed Central

    Park, S; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gsα and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism. Among those causing dyshormonogenesis, the thyroid peroxidase and thyroglobulin genes were initially described, and more recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects. There is also early evidence for a third group of congenital hypothyroid conditions associated with iodothyronine transporter defects associated with severe neurological sequelae. This review focuses on the genetic aspects of primary congenital hypothyroidism. PMID:15863666

  19. Giant congenital melanocytic nevus.

    PubMed

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion.

  20. Giant congenital melanocytic nevus*

    PubMed Central

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion. PMID:24474093

  1. A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis

    PubMed Central

    Ucpunar, Hanifi; Sevencan, Ahmet; Balioglu, Mehmet Bulent; Albayrak, Akif; Polat, Veli

    2016-01-01

    Study Design Retrospective study. Purpose To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. Overview of Literature Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. Methods Ninety consecutive scoliosis patients, who underwent surgical correction of scoliosis, were classified as CS (55 patients, 28 female [51%]) and IS (35 patients, 21 female [60%]). The complete data of the patients, including medical records, plain radiograph and transthoracic echocardiography were retrospectively assessed. Results We found that mitral valve prolapse was the most common cardiac abnormality in both patients with IS (nine patients, 26%) and CS (13 patients, 24%). Other congenital cardiac abnormalities were atrial septal aneurysm (23% of IS patients, 18% of CS patients), pulmonary insufficiency (20% of IS patients, 4% of CS patients), aortic insufficiency (17% of IS patients), atrial septal defect (11% of IS patients, 13% of CS patients), patent foramen ovale (15% of CS patients), dextrocardia (4% of CS patients), bicuspid aortic valve (3% of IS patients), aortic stenosis (2% of CS patients), ventricular septal defect (2% of CS patients), and cardiomyopathy (2% of CS patients). Conclusions We determined the increased incidence of congenital cardiac abnormalities among patients with congenital and IS. Mitral valve prolapse appeared to be the most prevalent congenital cardiac abnormality in both groups. PMID:27114761

  2. Noninvasive Assessment of Vascular Function in Postoperative Cardiovascular Disease (Coarctation of the Aorta, Tetralogy of Fallot, and Transposition of the Great Arteries).

    PubMed

    Mivelaz, Yvan; Leung, Mande T; Zadorsky, Mary Terri; De Souza, Astrid M; Potts, James E; Sandor, George G S

    2016-08-15

    Using noninvasive techniques, we sought to assess arterial stiffness, impedance, hydraulic power, and efficiency in children with postoperative tetralogy of Fallot (TOF), coarctation of the aorta (COA), and transposition of the great arteries (TGAs). Results were compared with those of healthy peers. Fifty-five children with repaired congenital heart disease (24 TOFs, 20 COAs, and 11 TGAs) were compared with 55 age-matched control subjects (CTRL). Echocardiographic Doppler imaging and carotid artery applanation tonometry were preformed to measure aortic flow, dimensions, and calculate pulse wave velocity, vascular impedance and arterial stiffness indexes, hydraulic power (mean and total), and hydraulic efficiency (HE) which were calculated using standard fluid dynamics equations. All congenital heart disease subgroups had higher pulse wave velocity than CTRL. Only the COA group had higher characteristic impedance. Mean power was higher in TGA than in CTRL and TOF, and total power was higher in TGA than in CTRL and TOF. Hydraulic efficiency was higher in TOF than in COA and TGA. In conclusion, children with TOF, COA, and TGA have stiffer aortas than CTRL. These changes may be related to intrinsic aortic abnormalities, altered integrity of the aorta due to surgical repair, and/or acquired postsurgery. These patients may be at increased long-term cardiovascular risk, and long-term follow-up is important for monitoring and assessment of efforts to reduce risk.

  3. Political Correctness--Correct?

    ERIC Educational Resources Information Center

    Boase, Paul H.

    1993-01-01

    Examines the phenomenon of political correctness, its roots and objectives, and its successes and failures in coping with the conflicts and clashes of multicultural campuses. Argues that speech codes indicate failure in academia's primary mission to civilize and educate through talk, discussion, thought,166 and persuasion. (SR)

  4. Development of pediatric and congenital heart surgery in latin america: accomplishments and remaining challenges.

    PubMed

    Kreutzer, Christian; Capelli, Horacio; Sandoval, Nestor; Jatene, Marcelo; Kreutzer, Guillermo

    2011-04-01

    In the last 70 years, congenital heart surgery has dramatically evolved, and Latin America has completed this journey with unique regional features. Since the first ligation of a patent arterial duct by Enrique Finochietto in 1941 in Buenos Aires, the development of congenital heart surgery was deeply influenced by funding restrictions and scarcity of technology. However, the determined work of cardiovascular surgery pioneers as Hugo Filipozzi, Euriclides Zerbini, and Adib Jatene in Brazil; Helmut Jaeger in Chile; Hugo Baz and Clemente Robles in Mexico; Alberto Bejarano in Colombia; and Mario Brea and Fernando Tricerri in Argentina made cardiac surgery with cardiopulmonary bypass available by the late 1950s. In the following five decades new generations of cardiovascular surgeons received the legacy of these outstanding leaders and made several important contributions to the field in tetralogy of Fallot, transposition of the great arteries, tricuspid atresia, single ventricle, truncus arteriosus, heart transplantation, and many others. Many centers in Latin America routinely perform congenital heart disease surgery with excellent results, covering the entire spectrum from the newborn to the adult congenital heart patient. The most important challenge that remains is to provide access to care to all children with congenital heart disease in Latin America, since currently only 42% of them receive surgical treatment.

  5. A Method for Correcting Typographical Errors in Subject Headings in OCLC Records. Research Report.

    ERIC Educational Resources Information Center

    O'Neill, Edward T.; Aluri, Rao

    The error-correcting algorithm described was constructed to examine subject headings in online catalog records for common errors such as omission, addition, substitution, and transposition errors, and to make needed changes. Essentially, the algorithm searches the authority file for a record whose primary key exactly matches the test key. If an…

  6. Use of mini-temporalis transposition to improve free muscle outcomes for smile.

    PubMed

    Terzis, Julia K; Olivares, Fatima S

    2008-12-01

    In managing late facial paralysis, association of cross-facial nerve grafting and free muscle transfer proves superior to any other method of mid-face reanimation. Nevertheless, predicting functional recovery remains a struggle, and in a minority of patients, results are deceiving. In this study, cases of fair or moderate outcomes from a free muscle transfer received a segmental temporalis transposition to upgrade the functional and aesthetic results. From 1981 to 2007, 153 patients received a free muscle transfer for smile restoration in the authors' center. Of all patients, 72 percent (110 patients) required a third stage of revisions. In 41 cases, mini-temporalis transfer was used to augment moderate outcomes of a free muscle transfer. The exclusion criterion was less than 3 months' follow-up; thus, six patients were not evaluated. Each patient was videotaped at three successive time points (preoperatively, following free muscle transfer, and following mini-temporalis transfer). Five independent observers graded patients' videos using a five-category scale from poor to excellent. In all of the patients, the averaged scores were higher after free muscle transfer in comparison with the preoperative scores (Wilcoxon signed rank test, p < 0.0001). After mini-temporalis transfer, 97.1 percent of the patients had scores that were increased further and 2.8 percent had the same scores. Alopecia along the coronal incision was seen in four patients, and hollowing of the infratemporal fossa was seen in five. Analysis of these clinical data supports the use of mini-temporalis transfer as a safe and reliable method of correcting imperfect outcomes following a free muscle transfer for smile restoration.

  7. Rainfall and Flood Frequency Analysis Using High-Resolution Radar Rainfall Fields and Stochastic Storm Transposition

    NASA Astrophysics Data System (ADS)

    Wright, Daniel; Smith, James; Baeck, Mary Lynn

    2013-04-01

    Spatial and temporal variability of rainfall fields, and their interactions with surface, subsurface, and drainage network properties, are important drivers of flood response. 'Design storms,' which are commonly used for flood risk assessment, however, are assumed to be uniform in space and either uniform or highly idealized in time. The impacts of these and other common assumptions on estimates of flood risk are poorly understood. We present an alternative framework for flood risk assessment based on stochastic storm transposition (SST). In this framework, "storm catalogs" are derived from a ten-year high-resolution (15-minute, 1 km2) bias-corrected radar rainfall dataset for the region surrounding Charlotte, North Carolina, USA. SST-based rainfall frequency analyses are developed by resampling from these storm catalogs to synthesize the regional climatology of extreme rainfall. SST-based intensity-frequency-duration (IFD) estimates are driven by the spatial and temporal rainfall variability from weather radar observations, are specifically tailored to the chosen catchment, and do not require simplifying assumptions of storm structure. We are able to use the SST procedure to reproduce IFD estimates from conventional methods for small urban catchments in Charlotte. We further demonstrate that extreme rainfall can vary substantially in time and in space, with important flood risk implications that cannot be assessed using conventional techniques. When coupled with a physics-based distributed hydrologic model, the Gridded Surface Subsurface Hydrologic Analysis (GSSHA) model, SST enables us to examine the full impact of spatial and temporal rainfall variability on flood response and flood frequency. The interactions of extreme rainfall with spatially distributed land use, soil properties, and stormwater management infrastructure are assessed for several nested urban catchments in Charlotte. Results suggest that these interactions, which cannot be fully accounted for

  8. Clinical presentation and management of congenital ptosis

    PubMed Central

    Marenco, Marco; Macchi, Ilaria; Macchi, Iacopo; Galassi, Emilio; Massaro-Giordano, Mina; Lambiase, Alessandro

    2017-01-01

    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. PMID:28280295

  9. The Mu Transposable Elements of Maize: Evidence for Transposition and Copy Number Regulation during Development

    PubMed Central

    Alleman, Mary; Freeling, Michael

    1986-01-01

    The Mu transposon of maize exists in a highly mutagenic strain called Robertson's Mutator. Plants of this strain contain 10–50 copies of the Mu element, whereas most maize strains and other plants have none. When Mutator plants are crossed to plants of the inbred line 1S2P, which does not have copies of Mu, the progeny plants have approximately the same number of Mu sequences as did their Mutator parent. Approximately one-half of these copies have segregated from their parent and one-half have arisen by transposition and are integrated into new positions in the genome. This maintenance of copy number can be accounted for by an extremely high rate of transposition of the Mu elements (10–15 transpositions per gamete per generation). When Mutator plants are self-pollinated, the progeny double their Mu copy number in the first generation, but maintain a constant number of Mu sequences with subsequent self-pollinations. Transposition of Mu and the events that lead to copy number maintenance occur very late in the development of the germ cells but before fertilization. A larger version of the Mu element transposes but is not necessary for transposition of the Mu sequences. The progeny of crosses with a Mutator plant occasionally lack Mutator activity; these strains retain copies of the Mu element, but these elements no longer transpose. PMID:3002907

  10. Endoscopic Transmaxillary Transposition of Temporalis Flap for Recurrent Cerebrospinal Fluid Leak Closure.

    PubMed

    Thomas, Regi; Girishan, Shabari; Chacko, Ari George

    2016-12-01

    Objective To describe the technique of endoscopic transmaxillary temporalis muscle flap transposition for the repair of a persistent postoperative sphenoidal cerebrospinal fluid leak. Design The repair of a recurrent cerebrospinal fluid leak for a patient who had undergone endoscopic transsphenoidal excision of an invasive silent corticotroph Hardy C and Knosp Grade IV pituitary adenoma was undertaken. The patient had completed postoperative radiotherapy for the residual tumor and presented with cerebrospinal fluid leak, 1 year later. The initial two attempts to repair the cerebrospinal fluid leak with free grafts failed. Therefore, an endoscopic transmaxillary transposition of the temporalis muscle flap was attempted to stop the cerebrospinal fluid leak. Results The endoscopic transmaxillary transposition of the vascularized temporalis muscle flap onto the cerebrospinal fluid leak repair site resulted in successful closure of the cerebrospinal fluid leak. Conclusion Endoscopic transmaxillary transposition of the temporalis flap resulted in closure of recurrent cerebrospinal fluid leak in a patient with recurrent pituitary adenoma, who had undergone previous surgery and radiotherapy. This technique has advantages over the endoscopic transpterygoid transposition of the same flap and could be used as a complementary technique in selected patients.

  11. Understanding how the V(D)J recombinase catalyzes transesterification: distinctions between DNA cleavage and transposition

    PubMed Central

    Lu, Catherine P.; Posey, Jennifer E.; Roth, David B.

    2008-01-01

    The Rag1 and Rag2 proteins initiate V(D)J recombination by introducing site-specific DNA double-strand breaks. Cleavage occurs by nicking one DNA strand, followed by a one-step transesterification reaction that forms a DNA hairpin structure. A similar reaction allows Rag transposition, in which the 3′-OH groups produced by Rag cleavage are joined to target DNA. The Rag1 active site DDE triad clearly plays a catalytic role in both cleavage and transposition, but no other residues in Rag1 responsible for transesterification have been identified. Furthermore, although Rag2 is essential for both cleavage and transposition, the nature of its involvement is unknown. Here, we identify basic amino acids in the catalytic core of Rag1 specifically important for transesterification. We also show that some Rag1 mutants with severe defects in hairpin formation nonetheless catalyze substantial levels of transposition. Lastly, we show that a catalytically defective Rag2 mutant is impaired in target capture and displays a novel form of coding flank sensitivity. These findings provide the first identification of components of Rag1 that are specifically required for transesterification and suggest an unexpected role for Rag2 in DNA cleavage and transposition. PMID:18375979

  12. The DNA-bending protein HMGB1 is a cellular cofactor of Sleeping Beauty transposition.

    PubMed

    Zayed, Hatem; Izsvák, Zsuzsanna; Khare, Dheeraj; Heinemann, Udo; Ivics, Zoltán

    2003-05-01

    Sleeping Beauty (SB) is the most active Tc1/ mariner-type transposon in vertebrates. SB contains two transposase-binding sites (DRs) at the end of each terminal inverted repeat (IR), a feature termed the IR/DR structure. We investigated the involvement of cellular proteins in the regulation of SB transposition. Here, we establish that the DNA-bending, high-mobility group protein, HMGB1 is a host-encoded cofactor of SB transposition. Transposition was severely reduced in mouse cells deficient in HMGB1. This effect was rescued by transient over-expression of HMGB1, and was partially complemented by HMGB2, but not with the HMGA1 protein. Over-expression of HMGB1 in wild-type mouse cells enhanced transposition, indicating that HMGB1 can be a limiting factor of transposition. SB transposase was found to interact with HMGB1 in vivo, suggesting that the transposase may recruit HMGB1 to transposon DNA. HMGB1 stimulated preferential binding of the transposase to the DR further from the cleavage site, and promoted bending of DNA fragments containing the transposon IR. We propose that the role of HMGB1 is to ensure that transposase-transposon complexes are first formed at the internal DRs, and subsequently to promote juxtaposition of functional sites in transposon DNA, thereby assisting the formation of synaptic complexes.

  13. Great saphenous vein transposition to the forearm for dialysis vascular access; an under used autologous option?

    PubMed

    Smith, George E; Carradice, Daniel; Samuel, Nehemiah; Gohil, Risha; Chetter, Ian C

    2011-01-01

    The recommended site for the next autologous vascular access in patients without suitable cephalic vein for fistula formation is basilic vein transposition. This study aims to compare outcomes from great saphenous vein transpositions to the forearm with that of basilic vein transposition. Comparison is reported in terms of primary and secondary patency, intervention, and complication rates in our unit. A retrospective search of a prospectively maintained vascular database identified 24 consecutive patients undergoing great saphenous vein transposition (GSVT) and 34 consecutive patients having basilic vein transposition (BVT) were included for comparison. Primary and secondary patency details were obtained from hospital case notes and dialysis unit review records. Patency was studied using a Kaplan Meier analysis and compared using log rank testing. No significant difference was identified in primary or secondary patency between the procedures (P=0.745). Primary patency at 6, 12 and 24 months: for GSVT this was 62%, 41%, and 20%; for BVT this was 44%, 32%, and 15% respectively. Secondary patency at 6, 12, and 24 months; for GSVT this was 75%, 50%, and 41%; for BVT this was 65% respectively. Requirements for intervention were similar between groups. Complications were more common in the BVT group. Acceptable patency rates can be achieved using GSVT, thus adding another autologous option for upper limb dialysis access. Our results would suggest GSVT could be performed prior to BVT as the basilic vein may benefit from prior partial arterialization and can subsequently be used if GSVT fails.

  14. Congenital heart anomalies in patients with clefts of the lip and/or palate.

    PubMed

    Wyse, R K; Mars, M; al-Mahdawi, S; Russell-Eggitt, I M; Blake, K D

    1990-07-01

    The nature and severity of congenital heart disease in 78 patients who presented with clefts of the lip and/or palate is reported. The prevalence of bilateral cleft lip and palate in patients with heart lesions was much higher than in cleft patients with normal hearts. Cardiac defects were predominantly conotruncal. Tetralogy of Fallot was present in 24 percent of patients; the prevalence of transposition, atrioventricular septal defect, and truncus arteriosus was also disproportionately high. Patients with conotruncal defects had a greater prevalence of either unilateral or bilateral cleft lip and palate. Most patients with congenital heart disease and clefting had additional abnormalities. Anomalies of other systems were found to be present in 87 percent of patients.

  15. Congenital complete heart block.

    PubMed Central

    Agarwala, B.; Sheikh, Z.; Cibils, L. A.

    1996-01-01

    Congenital complete heart block in utero has become diagnosed more frequently with the clinical use of fetal echocardiography. The fetus with complete heart block may remain asymptomatic or may develop congestive heart failure. Congenital complete heart block is more frequently seen in infants of mothers with systemic lupus erythematosus, both clinically manifested and subclinical systemic lupus erythematosus with positive antibodies (SS-A and SS-B antibodies). At birth, the neonate with complete heart block may remain asymptomatic and may not require a pacemaker to increase the heart rate. The indications for a pacemaker in neonates with complete heart block have been discussed. Both in-utero and neonatal management of congenital complete heart block are discussed to manage congestive heart failure in a fetus. Four patients with congenital complete heart block are presented covering a broad spectrum of clinical presentation, diagnosis, and management both in the fetal and neonatal period. Images Figure 1 PMID:8961692

  16. Congenital nephrotic syndrome

    MedlinePlus

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  17. Giant congenital nevus

    MedlinePlus

    ... A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. It is ... rare. Symptoms A nevus will appear as a dark-colored patch with any of the following: Brown ...

  18. Congenital Heart Information Network

    MedlinePlus

    ... Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright ©1996 - 2016 C.H.I.N. All rights reserved TX4-390-685 Original site design and HTML by Panoptic Communications

  19. Congenital feeding and swallowing disorders.

    PubMed

    Abadie, Véronique; Couly, Gérard

    2013-01-01

    Although poorly recognized and studied, congenital sucking, swallowing, and/or feeding disorders are common. They can be the symptoms that reveal a neuromuscular disease, or that complicate a neuromuscular disease. It is essential to know feeding physiology during fetal and infant development in order to understand the variety of its disorders and to direct correctly diagnostic and therapeutic processes. A good semiological analysis will identify the symptoms. Several investigations help to determine the mechanism of the trouble (fiber endoscopy, videofluoroscopy, facial and swallowing electromyography, esophageal manometry, etc.). Other investigations, in addition to clinical assessments, help to identify the cause of the whole picture (peripheral electromyography, brain MRI, genetic or metabolic investigations, etc.). The main causes of sucking, swallowing, and feeding disorders are lesions of the brainstem (malformations of the posterior fossa, neonatal brainstem tumors, agenesis of cranial nerves, clastic lesion of the posterior brain, craniovertebral anomalies, syndromes that involve the rhombencephalic development such as Pierre Robin sequence, CHARGE syndrome, etc.). Suprabulbar lesions, neuromuscular disorders, peripheral esophageal, digestive, and laryngeal anomalies and dysfunctions can also be involved. The main principles of the management of congenital sucking, swallowing, and feeding disorders are the following: cure the cause if possible, facilitate the sucking reflex, preventing deleterious consequences of aspiration, preventing malnutrition, and preventing posttraumatic anorexia. Advice can be given to caregivers and physiotherapists who take charge of these children. Copyright © 2013 Elsevier B.V. All rights reserved.

  20. [Congenital buried penis in children].

    PubMed

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

    2011-10-01

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

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

    PubMed

    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

  2. Neural transposition in the Drosophila brain: is it all bad news?

    PubMed

    Waddell, Scott; Barnstedt, Oliver; Treiber, Christoph

    2014-01-01

    Transposition of mobile genetic elements can radically alter genome structure and sequence. In doing so, they can alter gene expression and cellular function. Perhaps unsurprisingly, this potentially catastrophic process is heavily constrained, especially in the germ line where aberrations lead to sterility or could be passed onto the next generation. However, recent studies in mammals and fruit flies suggest that transposition happens at measurable levels in the brain, and possibly more so in some cell types than in others. This has led to the suggestion that certain cell types may utilize transposable elements to diversify cellular properties. In this review, we discuss these findings and ideas in light of our current understanding of transposons and their control in the fly, and the growing evidence for an involvement of transposition in neurological disease in humans. Copyright © 2014 Elsevier Inc. All rights reserved.

  3. [Esophagectomy and colonic orthotopic transposition by video-assisted thoracoscopy (VATS)].

    PubMed

    Lau Torres, Víctor Eduardo; Salazar Tantaleán, Víctor Augusto

    2009-01-01

    The esophagectomy and colonic transposition by video-assisted thoracoscopy (VATS), still not recommended as a technique of choice for the treatment of benign and malignant esophagus despite good results in hospitalization, morbidity and mortality. This case describes a 24 year old male patient who swallowed muriatic acid, causing severe injuries to the esophagus and stomach. Initially, he performed jejunal transposition which subsequently are causing progressive dysphagia, readmitted 2 years later. This time surgery is performed in 2 stages: (1) rise of the ascending colon and jejunum distal to oesophageal vasculature itself, by open surgery (2) esophagectomy and colonic orthotopic transposition by VATS and posterior hypopharyngeal anastomosis in colon anterior cervical region. Patient was discharged without complications and shorter hospital stay. Currently no evidence of dysphagia, improved nutritional status and ultimately better quality of life.

  4. Simple Transposition Technique for Microvascular Decompression Using an Expanded Polytetrafluoroethylene “Belt”: Technical Note

    PubMed Central

    TANAKA, Yuichiro; UCHIDA, Masashi; ONODERA, Hidetaka; HIRAMOTO, Jun; YOSHIDA, Yasuyuki

    2014-01-01

    Microvascular decompression (MVD) is a standard surgical procedure for treating vascular compression syndromes. There are two basic ways to perform MVD: interposition using a prosthesis and transposition. With the transposition technique, adhesions and granuloma around the decompression site are avoided, but the required operation is more complex than that for the interposition method. We describe a simple, quick MVD transposition procedure that uses a small “belt” cut from a sheet of 0.3-mm-thick expanded polytetrafluoroethylene membrane. The belt has a hole at the wide end and the other end tapered to a point. The belt is encircled around offending vessels by inserting the pointed end into the hole. The pointed end is then passed through a dural tunnel over the posterior wall of the petrous bone and is tied two or three times. This method avoids the risks involved in handling a surgical needle close to the cranial nerves and vessels. PMID:24097088

  5. Simple transposition technique for microvascular decompression using an expanded polytetrafluoroethylene "belt": technical note.

    PubMed

    Tanaka, Yuichiro; Uchida, Masashi; Onodera, Hidetaka; Hiramoto, Jun; Yoshida, Yasuyuki

    2014-06-17

    Microvascular decompression (MVD) is a standard surgical procedure for treating vascular compression syndromes. There are two basic ways to perform MVD: interposition using a prosthesis and transposition. With the transposition technique, adhesions and granuloma around the decompression site are avoided, but the required operation is more complex than that for the interposition method. We describe a simple, quick MVD transposition procedure that uses a small "belt" cut from a sheet of 0.3-mm-thick expanded polytetrafluoroethylene membrane. The belt has a hole at the wide end and the other end tapered to a point. The belt is encircled around offending vessels by inserting the pointed end into the hole. The pointed end is then passed through a dural tunnel over the posterior wall of the petrous bone and is tied two or three times. This method avoids the risks involved in handling a surgical needle close to the cranial nerves and vessels.

  6. A Genome-Wide Survey of Genetic Instability by Transposition in Drosophila Hybrids

    PubMed Central

    Vela, Doris; Fontdevila, Antonio; Vieira, Cristina; García Guerreiro, María Pilar

    2014-01-01

    Hybridization between species is a genomic instability factor involved in increasing mutation rate and new chromosomal rearrangements. Evidence of a relationship between interspecific hybridization and transposable element mobilization has been reported in different organisms, but most studies are usually performed with particular TEs and do not discuss the real effect of hybridization on the whole genome. We have therefore studied whole genome instability of Drosophila interspecific hybrids, looking for the presence of new AFLP markers in hybrids. A high percentage (27–90%) of the instability markers detected corresponds to TEs belonging to classes I and II. Moreover, three transposable elements (Osvaldo, Helena and Galileo) representative of different families, showed an overall increase of transposition rate in hybrids compared to parental species. This research confirms the hypothesis that hybridization induces genomic instability by transposition bursts and suggests that genomic stress by transposition could contribute to a relaxation of mechanisms controlling TEs in the Drosophila genome. PMID:24586475

  7. Genomic parasites or symbionts? Modeling the effects of environmental pressure on transposition activity in asexual populations.

    PubMed

    Startek, Michał; Le Rouzic, Arnaud; Capy, Pierre; Grzebelus, Dariusz; Gambin, Anna

    2013-12-01

    Transposable elements are DNA segments capable of persisting in host genomes by self-replication in spite of deleterious mutagenic effects. The theoretical dynamics of these elements within genomes has been studied extensively, and population genetic models predict that they can invade and maintain as a result of both intra-genomic and inter-individual selection in sexual species. In asexuals, the success of selfish DNA is more difficult to explain. However, most theoretical work assumes constant environment. Here, we analyze the impact of environmental change on the dynamics of transposition activity when horizontal DNA exchange is absent, based on a stochastic computational model of transposable element proliferation. We argue that repeated changes in the phenotypic optimum in a multidimensional fitness landscape may induce explosive bursts of transposition activity associated with faster adaptation. However, long-term maintenance of transposition activity is unlikely. This could contribute to the significant variation in the transposable element copy number among closely related species.

  8. [Mobile genetic element MDG4 (gypsy) in Drosophila melanogaster. Features of structure and regulation of transposition].

    PubMed

    Kusulidu, L K; Karpova, N N; Razorenova, O V; Glukhov, I A; Kim, A I; Liubomirskaia, N V; Il'in, Iu V

    2001-12-01

    Distribution of two structural functional variants of the MDG4 (gypsy) mobile genetic element was examined in 44 strains of Drosophila melanogaster. The results obtained suggest that less transpositionally active MDG4 variant is more ancient component of the Drosophila genome. Using Southern blotting, five strains characterized by increased copy number of MDG4 with significant prevalence of the active variant over the less active one were selected for further analysis. Genetic analysis of these strains led to the suggestion that some of them carry factors that mobilize MDG4 independently from the cellular flamenco gene known to be responsible for transposition of this element. Other strains probably contained a suppressor of the flam- mutant allele causing active transpositions of the MDG4. Thus, the material for studying poorly examined relationships between the retrovirus and the host cell genome was obtained.

  9. Clinical application of sartorius tendon transposition during radical vulvectomy: a case control study of 58 cases at a single institution.

    PubMed

    Li, Lei; Kou, Xinxin; Feng, Xiaojie; Liu, Fenghua; Chao, Hongtu; Wang, Liying

    2015-10-01

    The aim of this study was to investigate the clinical effects of sartorius tendon transposition versus sartorius transposition during bilateral inguinal lymphadenectomy of radical vulvectomy. A total of 58 vulvar cancer patients who had surgery from May 2007 to October 2013, in which 30 patients received sartorius transposition and 28 patients received sartorius tendon transposition. All patients were matched by age, body mass index, stage, histology, and grade. Intraoperative variables and postoperative complications, recurrence, progression-free survival (PFS), and overall survival (OS) and postoperative life quality were compared and analyzed. No significant differences were found at median surgical times and amounts of bleeding (p=0.316 and p=0.249, respectively), neither at the incidences of groin cellulitis and lymphocele (p=0.673 and p=0.473, respectively), but the recovery times of the inguinal wounds were shorter (p=0.026) and the incidences of wound break and chronic lymphedema were significantly decreased in the tendon transposition group (p=0.012 and p=0.022, respectively). Postoperative quality of life in tendon transposition group was significantly improved as indicated by the EORTC QLQ-C30 questionnaire. Recurrences were similar (p=0.346) and no significant differences were found at PFS and OS (p=0.990 and p=0.683, respectively). Compared to sartorius transposition, sartorius tendon transposition during inguinal lymphadenectomy led to improved patient recovery, reduced postoperative complications, and improved life quality without compromising the outcomes.

  10. Expression of Drosophila virilis Retroelements and Role of Small RNAs in Their Intrastrain Transposition

    PubMed Central

    Rozhkov, Nikolay V.; Zelentsova, Elena S.; Shostak, Natalia G.; Evgen'ev, Michael B.

    2011-01-01

    Transposition of two retroelements (Ulysses and Penelope) mobilized in the course of hybrid dysgenesis in Drosophila virilis has been investigated by in situ hybridization on polytene chromosomes in two D. virilis strains of different cytotypes routinely used to get dysgenic progeny. The analysis has been repeatedly performed over the last two decades, and has revealed transpositions of Penelope in one of the strains, while, in the other strain, the LTR-containing element Ulysses was found to be transpositionally active. The gypsy retroelement, which has been previously shown to be transpositionally inactive in D. virilis strains, was also included in the analysis. Whole mount is situ hybridization with the ovaries revealed different subcellular distribution of the transposable elements transcripts in the strains studied. Ulysses transpositions occur only in the strain where antisense piRNAs homologous to this TE are virtually absent and the ping-pong amplification loop apparently does not take place. On the other hand small RNAs homologous to Penelope found in the other strain, belong predominantly to the siRNA category (21nt), and consist of sense and antisense species observed in approximately equal proportion. The number of Penelope copies in the latter strain has significantly increased during the last decades, probably because Penelope-derived siRNAs are not maternally inherited, while the low level of Penelope-piRNAs, which are faithfully transmitted from mother to the embryo, is not sufficient to silence this element completely. Therefore, we speculate that intrastrain transposition of the three retroelements studied is controlled predominantly at the post-transcriptional level. PMID:21779346

  11. Expression of Drosophila virilis retroelements and role of small RNAs in their intrastrain transposition.

    PubMed

    Rozhkov, Nikolay V; Zelentsova, Elena S; Shostak, Natalia G; Evgen'ev, Michael B

    2011-01-01

    Transposition of two retroelements (Ulysses and Penelope) mobilized in the course of hybrid dysgenesis in Drosophila virilis has been investigated by in situ hybridization on polytene chromosomes in two D. virilis strains of different cytotypes routinely used to get dysgenic progeny. The analysis has been repeatedly performed over the last two decades, and has revealed transpositions of Penelope in one of the strains, while, in the other strain, the LTR-containing element Ulysses was found to be transpositionally active. The gypsy retroelement, which has been previously shown to be transpositionally inactive in D. virilis strains, was also included in the analysis. Whole mount is situ hybridization with the ovaries revealed different subcellular distribution of the transposable elements transcripts in the strains studied. Ulysses transpositions occur only in the strain where antisense piRNAs homologous to this TE are virtually absent and the ping-pong amplification loop apparently does not take place. On the other hand small RNAs homologous to Penelope found in the other strain, belong predominantly to the siRNA category (21nt), and consist of sense and antisense species observed in approximately equal proportion. The number of Penelope copies in the latter strain has significantly increased during the last decades, probably because Penelope-derived siRNAs are not maternally inherited, while the low level of Penelope-piRNAs, which are faithfully transmitted from mother to the embryo, is not sufficient to silence this element completely. Therefore, we speculate that intrastrain transposition of the three retroelements studied is controlled predominantly at the post-transcriptional level.

  12. Outcomes for forearm and upper arm arteriovenous fistula creation with the transposition technique.

    PubMed

    Korepta, Lindsey M; Watson, Jennifer J; Elder, Erin A; Davis, Alan T; Mansour, M Ashraf; Chambers, Christopher M; Cuff, Robert F; Wong, Peter Y

    2016-03-01

    To study the outcomes of three different types of arteriovenous fistula (AVF) transpositions (forearm cephalic vein transposition [FACVT], upper arm cephalic vein transposition [UACVT], and upper arm basilic vein transposition [UABVT]) for dialysis patients in a single center. A 6-year retrospective review, from 2006 to 2012, was conducted at a single institution in which the surgical outcomes for three different types of AVF transposition were reviewed. Preoperative duplex vein mapping was obtained in all patients to choose the best vein for access. There were 165 patients identified with 77 FACVTs, 52 UACVTs, and 36 UABVTs. Primary access maturation rates for the FACVT, UACVT, and UABVT groups were 86%, 90%, and 97%, respectively (P = .19). All transposed, matured primary AVFs were used after a mean of 9.9 weeks, without additional intervention. Primary 1-year patency for the FACVT, UACVT, and UABVT groups were 63%, 61%, and 70%, respectively (P = .71). Primary assisted 1-year patency for the FACVT, UACVT, and UABVT groups were 93%, 93%, and 100%, respectively (P > .999). Mean operating room times and time to intervention were not significantly different between the groups. The postoperative hematoma rate was 2% and wound infection rate was 2%. Multivariate analysis indicated no significant predictors of time to failure (P > .05). With low primary failure rates, reduced need for secondary interventions before maturation, and 1-year primary assisted patency rates in excess of 93%, our study showed that the transposition technique, in our experience, is superior to previously published literature in hemodialysis access creation. Copyright © 2016 Society for Vascular Surgery. Published by Elsevier Inc. All rights reserved.

  13. Persistent institutional difficulties in surgery for transposition of the great arteries in guatemala: analysis with the aristotle basic and comprehensive scores.

    PubMed

    Leon-Wyss, Juan; Lo Rito, Mauro; Barnoya, Joaquin; Castañeda, Aldo R

    2011-07-01

    Background. Neonates with complex congenital cardiac lesions are largely inadequately managed in Guatemala. Methods. Between 1997 and 2009, 79 patients who underwent operations for transposition of the great arteries were identified; 51 (63.3%) had an arterial switch operation (ASO) and 28 (36%) an atrial switch operation (ATSO). The Aristotle Basic Complexity score (ABC score) and the Aristotle Comprehensive Complexity score (ACC score) have been used to aid in the evaluation of quality of care associated with pediatric cardiac surgery by adjusting for operative complexity. Results. In-hospital mortality was 47% for the ASO and 25% for the ATSO group; 36.7% were beyond 1 month of age and many exhibited increased preoperative risk factors. The mean ABC score was 9.75 ± 0.89 and the ACC score was 12.12 ± 2.7, with a mean 2.36-point increase (P < .05). Comparing survivors and nonsurvivors with both scores, significant differences were identified (ABC: P < .04 and ACC: P < .02). Conclusion. During this 13-year period, a low volume of surgery for transposition of the great arteries (TGA) was performed at our institution with a relatively high surgical mortality. Many patients with TGA in Guatemala are either never referred for surgery or referred late. Strategies to improve outcomes for neonates with TGA in Guatemala must include increases in early diagnosis countrywide and prompt referral to our unit. Based on the larger number of neonates with TGA that would be referred to our center, we anticipate that this strategy should substantially improve surgical outcomes and favor overall team-related skills.

  14. Congenital anomalies: hospitalization in a pediatric unit.

    PubMed

    Polita, Naiara Barros; Ferrari, Rosângela Aparecida P; de Moraes, Priscila Santa; Sant'Anna, Flávia Lopes; Tacla, Mauren Teresa G M

    2013-06-01

    To analyze the profile of children with congenital anomalies admitted to a pediatric unit. This is a quantitative and retrospective research. The sample consisted of records of children aged from 0 to 12 years old who were hospitalized in the pediatric unit of the University Hospital of Londrina, Paraná, Southern Brazil, from 2007 to 2009. Data were collected by chart review processed in the Epi-Info® program, and they were submitted to descriptive statistical analysis. There were 282 first admissions of children with congenital anomalies. Of these, 130 (46.0%) required readmission totaling therefore 412 hospitalizations. The mean stay was three days. There was a male predominance, and the age range was from three to seven years old. The most frequent congenital anomalies were in the genital and urinary systems (19.6%), followed by cleft lip and palate (17.3%), and those of the circulatory system (16.2%). There were 269 surgical procedures to correct there anomalies. This study underscores the epidemiological importance of congenital malformations, highlighting the need to prevent and control the triggering factors.

  15. Biphilic Organophosphorus Catalysis: Regioselective Reductive Transposition of Allylic Bromides via PIII/PV Redox Cycling

    PubMed Central

    Reichl, Kyle D.; Dunn, Nicole L.; Fastuca, Nicholas J.; Radosevich, Alexander T.

    2016-01-01

    We report that a regioselective reductive transposition of primary allylic bromides is catalyzed by a biphilic organophosphorus (phosphetane) catalyst. Spectroscopic evidence supports the formation of a pentacoordinate (σ5-P) hydridophosphorane as a key reactive intermediate. Kinetics experiments and computational modeling are consistent with a unimolecular decomposition of the σ5-P hydridophosphorane via a concerted cyclic transition structure that delivers the observed allylic transposition and completes a novel PIII/PV redox catalytic cycle. These results broaden the growing repertoire of reactions catalyzed within the PIII/PV redox couple and suggest additional opportunities for organophosphorus catalysis in a biphilic mode. PMID:25874950

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

    PubMed

    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.

  17. Bilateral chylothorax complicating Mustard repair of transposition of the great vessels.

    PubMed

    Copeland, J G; Shaut, C

    1982-10-01

    Less than 60 cases of bilateral chylothorax have been previously reported, and only two of these involve complicated Mustard procedures. We describe herein a patient in whom severe bilateral chylothorax developed three weeks after Mustard repair of D transposition. Complete reversal of this condition was obtained with revision of the constricted interatrial baffle and ligation of the thoracic duct. This cases is compared clinically with previously reported instances of chylothorax, and the role of played by obstruction of the superior vena cava after a Mustard procedure for transposition of the great vessels is emphasized.

  18. Hydrograph transposition to ungauged basin accounting for spatio-temporal rainfall variability

    NASA Astrophysics Data System (ADS)

    de Lavenne, Alban; Cudennec, Christophe

    2013-04-01

    Lack of measurements is one of the main issues in hydrological modelling. However, neighbours and nested gauged catchment are precious sources of information to understand the catchment behaviours within one region. Extracting the maximum of information from those points of measurements, that could be then transposed to ungauged catchment, is still a great challenge. We propose a methodology to transpose hydrological information from gauged catchments to ungauged ones, in order to simulate streamflow hydrographs. It uses geomorphology-based hydrological modelling, which is particularly well adapted to ungauged basins thanks to its robustness, generality and flexibility. We develop a geomorphology-based model on the gauged catchment which has been built in order to capture the main behaviour of the basin. Its transfer function considers the different dynamics of the catchment through the combination of velocities and width functions. Moreover, the explicit structure of the model enables to easily create a map of isochrone areas describing the time to the outlet. Therefore, spatially distributed rainfall can then be split into those isochrone areas, permitting the transfer function to deal with spatio-temporal variability of rainfall. Once the model calibrated, using a particle swarm optimisation algorithm, its transfer function is inversed to assess the net rainfall time series. In this way, we obtained a standardized variable which is used to estimate discharge in ungauged basin. Therefore, net rainfall time series is transposed and convoluted on the ungauged catchment using its own transfer function. Spatio-temporal rainfall variability between basins is considered through a correction of this net rainfall time series. This correction is based on differences between mean gross rainfall observation among those two catchments. This methodology is applied on pairs of basins among 6 gauged basins (from 5km² to 316km²) located in Brittany, France. For the benefit of

  19. Anterior subcutaneous transposition for persistent ulnar neuropathy after neurolysis.

    PubMed

    van Gent, Jort A N; Datema, Mirjam; Groen, Justus L; Pondaag, Willem; Eekhof, Job L A; Malessy, Martijn J A

    2017-03-01

    OBJECTIVE Little is known about optimal treatment if neurolysis for ulnar nerve entrapment at the elbow fails. The authors evaluated the clinical outcome of patients who underwent anterior subcutaneous transposition after failure of neurolysis of ulnar nerve entrapment (ASTAFNUE). METHODS A consecutive series of patients who underwent ASTAFNUE performed by a single surgeon between 2009 and 2014 was analyzed retrospectively. Preoperative and postoperative complaints in the following 3 clinical modalities were compared: pain and/or tingling, weakness, and numbness. Six-point satisfaction scores were determined on the basis of data from systematic telephonic surveys. RESULTS Twenty-six patients were included. The median age was 56 years (range 22-79 years). The median duration of complaints before ASTAFNUE was 23 months (range 8-78 months). The median interval between neurolysis and ASTAFNUE was 11 months (range 5-34 months). At presentation, 88% of the patients were experiencing pain and/or tingling, 46% had weakness, and 50% had numbness of the fourth and fifth fingers. Pain and/or tingling improved in 35%, motor function in 23%, and sensory disturbances in 19% of all the patients. Improvement in at least 1 of the 3 clinical modalities was found in 58%. However, a deterioration in 1 of the 3 modalities was noted in 46% of the patients. On the patient-satisfaction scale, 62% reported a good or excellent outcome. Patients with a good/excellent outcome were a median of 11 years younger than patients with a fair/poor outcome. No other factor was significantly related to satisfaction score. CONCLUSIONS A majority of the patients were satisfied after ASTAFNUE, even though their symptoms only partly resolved or even deteriorated. Older age is a risk factor for a poor outcome. Other factors that affect outcome might play a role, but they remain unidentified. One of these factors might be earlier surgical intervention. The modest results of ASTAFNUE should be mentioned when

  20. Heart transplantation in adults with congenital heart disease.

    PubMed

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

    2017-02-22

    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.

  1. A Valid Indication and the Effect of Bilateral Inferior Oblique Transposition on Recurrent or Consecutive Horizontal Deviation in Infantile Strabismus

    PubMed Central

    Ha, Suk-Gyu; Na, Gun-Hoo

    2017-01-01

    Purpose To evaluate the effects of bilateral inferior oblique transposition (BIOT) on horizontal deviation from primary position among patients with bilateral dissociated vertical deviation (DVD) associated with inferior oblique overaction (IOOA) in infantile strabismus. Methods Retrospective chart review was conducted among 19 patients with infantile strabismus. All patients had DVD and IOOA with consecutive or recurrent horizontal deviation and underwent modified BIOT surgery. Patients were divided into three subgroups: patients who underwent BIOT (BIOT group, n = 9) alone, BIOT with medial rectus recession or lateral rectus resection simultaneously (ET BIOT group, n = 6), or BIOT with lateral rectus recession or medial rectus resection simultaneously (XT BIOT group, n = 4). Postoperative angle of horizontal deviation (prism diopter, PD) and corrected magnitude of horizontal deviation (PD) at final visit after surgery were analyzed in each group. Results The mean age was 55.11 ± 21.05 months (range, 32 to 115). The mean follow-up period was 8.68 ± 2.87 months (range, 6 to 18). Preoperative horizontal deviation was 4.23 ± 5.99 PD (range, 0 to 16) in BIOT, −17.33 ± 6.76 PD (range, −30 to −10) in ET BIOT, and 17.50 ± 2.52 PD (range, 14 to 20) in XT BIOT. Esodeviation is represented by negative values. DVD and IOOA were reduced less than +1 in all patients. The corrected amount of horizontal deviation was 3.56 ± 5.18 PD (range, 0 to 16) in BIOT surgery alone and larger in XT BIOT (18.50 ± 3.41 PD) than in ET BIOT (12.33 ± 5.57 PD, p = 0.004). Conclusions Minimal exodeviation was corrected by BIOT alone. In addition, secondary eso- or exodeviation at great magnitudes should be corrected with proper horizontal muscle surgery along with BIOT. PMID:28367042

  2. Congenital malaria in China.

    PubMed

    Tao, Zhi-Yong; Fang, Qiang; Liu, Xue; Culleton, Richard; Tao, Li; Xia, Hui; Gao, Qi

    2014-03-01

    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. Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%), reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients were cured with antimalarial drugs such as chloroquine

  3. Congenital Malaria in China

    PubMed Central

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

    2014-01-01

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

  4. D-TRANSPOSITION OF THE GREAT ARTERIES: Hot Topics in the Current Era of the Arterial Switch Operation

    PubMed Central

    Villafañe, Juan; Lantin-Hermoso, M. Regina; Bhatt, Ami B.; Tweddell, James S.; Geva, Tal; Nathan, Meena; Elliott, Martin J.; Vetter, Victoria L.; Paridon, Stephen M.; Kochilas, Lazaros; Jenkins, Kathy J.; Beekman, Robert H.; Wernovsky, Gil; Towbin, Jeffrey A.

    2015-01-01

    Objectives This paper aims to update clinicians on “Hot Topics” in the management of patients with d-transposition of the great arteries (D-TGA) in the current surgical era. Background The arterial switch operation (ASO) has replaced atrial switch procedures for D-TGA and 90% of patients now reach adulthood. Methods The Adult Congenital and Pediatric Cardiology Council (ACPC) of the American College of Cardiology assembled a team of experts to summarize current knowledge on genetics, prenatal diagnosis, surgical timing, balloon atrial septostomy (BAS), prostaglandin therapy (PGE), intraoperative techniques, imaging, coronary obstruction, arrhythmias, sudden death, aortic dilation and regurgitation (AR), neurodevelopmental (ND) issues and lifelong care of D-TGA patients. Results In simple D-TGA, 1) familial recurrence risk is low; 2) children diagnosed prenatally have improved cognitive skills compared with those diagnosed postnatally; 3) echocardiography helps to identify risk factors; 4) routine use of BAS and PGE may not be beneficial in some cases; 5) early ASO improves outcomes and reduces costs with a low mortality. Single or intramural coronary arteries remain risk factors; 6) post-ASO arrhythmias and cardiac dysfunction should raise suspicion of coronary insufficiency; 7) coronary insufficiency and arrhythmias are rare but associated with sudden death; 8) early and late-onset ND abnormalities are common; 9) AR and aortic root dilation are well tolerated; and 10) the aging ASO patient may benefit from “exercise-prescription” rather than restriction. Conclusions Significant strides have been made in understanding risk factors for cardiac, ND and other important clinical outcomes after ASO. PMID:25082585

  5. Hemodynamic consequences of a restrictive ductus arteriosus and foramen ovale in fetal transposition of the great arteries.

    PubMed

    Talemal, L; Donofrio, M T

    2016-09-16

    D-transposition of the great arteries (D-TGA) is the most commonly diagnosed cyanotic congenital heart disease presenting in the neonatal period. The survival after an arterial switch operation, with freedom from adverse cardiovascular events, has been reported to be as high as 93% at 25 years. However, despite excellent surgical outcomes, there continues to be significant preoperative morbidity and potential mortality due to compromise in the delivery room from foramen ovale closure requiring urgent balloon atrial septostomy for stabilization in the first minutes of life. The prenatal diagnosis of D-TGA using fetal echocardiography has aided in the perinatal management and delivery planning of these infants, lowering preoperative morbidity and mortality and preventing delivery room compromise. Fetuses with D-TGA have more highly oxygenated blood supplying the pulmonary arteries and ductus arteriosus which likely results in ductal constriction and increased pulmonary blood flow. This may be the cause of foramen ovale restriction or closure in-utero, which then increases the risk for postnatal compromise at delivery. Theories regarding the cause of the abnormal pulmonary vasculature that may be seen in D-TGA, including aorto-pulmonary collateral formation, have been proposed but to our knowledge, observation of the ultrasound findings throughout mid and late gestation describing the progression of the abnormal fetal physiology have not been previously described. We present a case of D-TGA in which serial assessment using fetal echocardiography enabled observation of the in-utero progression of disease, predicting postnatal compromise and facilitating the planning of life-saving specialized delivery room care and intervention.

  6. Genetics of Congenital Cataract.

    PubMed

    Pichi, Francesco; Lembo, Andrea; Serafino, Massimiliano; Nucci, Paolo

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.

  7. What Are Congenital Heart Defects?

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  8. Types of Congenital Heart Defects

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  9. Environmental aspects of congenital scoliosis.

    PubMed

    Li, Zheng; Yu, Xin; Shen, Jianxiong

    2015-04-01

    Growing evidence has proved that many aspects of our lifestyle and the environment contribute to the development of congenital disease. Congenital spinal deformities are due to anomalous development of the vertebrae including failure of formation and segmentation during embryogenesis. The causes of congenital scoliosis have not been fully identified. A variety of factors are implicated in the development of vertebral abnormalities. Previous studies have demonstrated that both genetics and environmental factors are implicated in the development of vertebral abnormalities. However, no specific cause for congenital scoliosis has been identified. In our review, we focus on the environmental factors for the development of congenital scoliosis. Various maternal exposures during pregnancy including hypoxia, alcohol use, vitamin deficiency, valproic acid, boric acid, and hyperthermia have been observed to be associated with the occurrence of congenital scoliosis. This review describes the major environmental contributors of congenital scoliosis with an emphasis on treatment aspects associated with environmental disposition in congenital scoliosis.

  10. Genetics Home Reference: congenital hyperinsulinism

    MedlinePlus

    ... of infancy Great Ormond Street Hospital for Children (UK) Merck Manual Consumer Version: Hypoglycemia Orphanet: Congenital isolated ... Diseases Congenital Hyperinsulinism International The Children's Hyperinsulinism Fund (UK) GeneReviews (1 link) Familial Hyperinsulinism ClinicalTrials.gov (1 ...

  11. Leber's congenital amaurosis.

    PubMed

    Mizuno, K; Takei, Y; Sears, M L; Peterson, W S; Carr, R E; Jampol, L M

    1977-01-01

    An early stage of Leber's congenital amaurosis, characterized by white spots or lines in the fundus, occurred in two children. Light microscopic examination of eyes obtained from one child, a 16-month-old Japanese girl, revealed subretinal deposits corresponding to the white spots and lines in the fundus deposits. Light and electron microscopic examination of the eye showed distinctive changes in the outer retinal layers and choroid, while the inner retinal layers were nearly normal. Characteristic early lesions of congenital amaurosis appeared to be produced by deposits consisting of loose outer segments and apical processes of the pigmental epithelial cell and macrophages. Undifferentiation in the nuclei of the photoreceptor cell, the inner segment, the pigment epithelial cell, and the choriocapillaris were likely characteristics of the early changes of congenital amaurosis.

  12. Leber's congenital amaurosis.

    PubMed

    De Laey, J J

    1991-01-01

    Leber's congenital amaurosis is an autosomal recessive disorder, characterized by the onset of blindness before the age of 6 months, a variable fundus aspect and an absent or extremely pathological ERG. The disorder may be isolated or associated with systemic involvement, such as nephronophtisis (Senior-Loken syndrome), nephronophtisis, cone-shaped epiphyses of the hand and cerebellar ataxia (Saldino-Mainzer syndrome), vermis hypoplasia, oculomotor anomalies and respiratory problems in the neonatal period (Joubert syndrome) or cardiomyopathy. It should be differentiated from other forms or chorioretinal dystrophies (juvenile retinitis pigmentosa or congenital stationary night blindness), cortical blindness or maturation delay and metabolic disorders. Children with possible congenital Leber amaurosis should not only have a thorough ophthalmological examination, but should also be seen by a paediatrician experienced in metabolic disorders.

  13. [Congenital chloride diarrhea].

    PubMed

    Contreras, Mónica; Rocca, Ana; Benedetti, Laura; Kakisu, Hisae; Delgado, Sabrina; Ruiz, José Antonio

    2005-01-01

    Congenital chloride diarrhea (CCD) is a rare hereditary disease, with a prenatal onset, secondary to a deficit in the intestinal chloride transport. In the present study, we describe the clinical characteristics of three patients with congenital watery diarrhea, two of them females, aged between 9 and 14 months at the first visit. All patients presented perinatal antecedents of polyhydramnios and prematurity, watery stools since birth and growth failure. Metabolic alkalosis, hypokalemia and hypochloremia were found. Stool ionogram with elevated doses of chloride, exceeding both sodium and potassium, confirmed the diagnosis of CCD. Substitute treatment with sodium and potassium chloride was started with good results. CCD should be considered as a differential diagnosis to congenital watery diarrhea, since early diagnosis and appropriate treatment are mandatory for the normal development of the child, avoiding severe complications such as neurological sequelae and even death.

  14. Congenital brain infections.

    PubMed

    Arbelaez, Andres; Restrepo, Feliza; Davila, Jorge; Castillo, Mauricio

    2014-06-01

    Pediatric congenital intracranial infections are a group of different and important entities that constitute a small percentage of all pediatric infections. The causal factors and clinical presentations are different in children compared with adults. They require early recognition because delay diagnosis and initiation of treatment may have catastrophic consequences. Despite improvements in prenatal screening, vaccine safety, and antibiotics, infections of the central nervous system remain an important cause of neurological disabilities worldwide. This article reviews the most common congenital infections and their imaging findings.

  15. Congenital Toxoplasmosis: A Review.

    PubMed

    Hampton, Marissa Martinez

    2015-01-01

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

  16. Congenital muscular torticollis

    PubMed Central

    Nilesh, Kumar; Mukherji, Srijon

    2013-01-01

    Congenital muscular torticollis (CMT) is a rare congenital musculoskeletal disorder characterized by unilateral shortening of the sternocleidomastoid muscle (SCM). It presents in newborn infants or young children with reported incidence ranging from 0.3% to 2%. Owing to effective shortening of SCM on the involved side there is ipsilateral head tilt and contralateral rotation of the face and chin. This article reports a case of CMT in a 3½-year-old male child successfully managed by surgical release of the involved SCM followed by physiotherapy. PMID:24205484

  17. Congenital Hemolytic Anemia.

    PubMed

    Haley, Kristina

    2017-03-01

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

  18. Common Congenital Anomalies

    PubMed Central

    Lowry, R. B.

    1985-01-01

    Congenital anomalies account for a substantial proportion of childhood morbidity and mortality. They have become proportionately larger because of the decline of such other categories as infections or birth trauma. Approximately 3% of newborns have a serious handicapping or potentially lethal condition; in longterm studies the frequency is much higher. There is no good evidence to suggest that the rates of congenital anomalies are increasing, although this is a common perception. This article discusses diagnosis and management (especially genetic implications) of heart defects, neural tube defects, orofacial clefting, dislocated hip, clubfoot, and hypospadias. PMID:21274150

  19. Congenital Adrenal Hyperplasia

    PubMed Central

    Speiser, Phyllis W.

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management. PMID:26339484

  20. [Transcatheter treatment of congenital heart disease].

    PubMed

    Godart, François

    2006-03-31

    For more than 20 years, interventional cardiac catheterization has considerably increased in the therapeutic management of simple congenital heart disease in childhood. It is possible to correct pulmonary or aortic valvar stenosis, to close a persistent shunt as patent arterial duct or atrial septal defect. Sometimes, it can replace surgical repair and can be proposed as a first line treatment. Interventional cardiac catheterisation has several advantages for the patient: no thoracotomy, no scar, shorter hospital stay, less painful, lower morbidity and reduced cost. These techniques have also benefited from miniaturization and evolution of the occluders with time. Gene therapy, tissue engineering and new imaging modality (MRI, endovascular echo) will be the future of interventional cardiac catheterization which will occupy a more important place in the treatment of congenital heart disease in children.

  1. Assessment for congenital long QT syndrome.

    PubMed

    Heidenreich, Wayne F

    2003-01-01

    A 29-year-old male presented for an evaluation of his risk for having congenital long QT syndrome. Despite being asymptomatic and having a normal QTc interval on the resting ECG, a suggestive family history was an indication for a thorough cardiac evaluation. A geneticist reviewed this workup and recommended against genetic testing. While up to 10% of affected carriers of a congenital long QT syndrome gene mutation can be asymptomatic with a normal QTc, consideration of all of the clinical factors allowed for further risk stratification. The evaluation of an ECG for the long QT syndrome includes calculating a corrected QT interval for the heart rate and assessing the T-waves for morphology associated with this syndrome.

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

    ERIC Educational Resources Information Center

    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…

  3. An Evaluation of Frequency Transposition for Hearing-Impaired School-Age Children

    ERIC Educational Resources Information Center

    Smith, Jenny; Dann, Marilyn; Brown, P. Margaret

    2009-01-01

    A key objective when fitting hearing aids to children is to maximize the audibility of high frequency speech cues which are critical in the understanding of spoken English. Recent advances in digital signal processing have enabled the development of hearing aids which offer linear frequency transposition as a new way of accessing these important…

  4. Inferring the History of Interchromosomal Gene Transposition in Drosophila Using n-Dimensional Parsimony

    PubMed Central

    Han, Mira V.; Hahn, Matthew W.

    2012-01-01

    Gene transposition puts a new gene copy in a novel genomic environment. Moreover, genes moving between the autosomes and the X chromosome experience change in several evolutionary parameters. Previous studies of gene transposition have not utilized the phylogenetic framework that becomes possible with the availability of whole genomes from multiple species. Here we used parsimonious reconstruction on the genomic distribution of gene families to analyze interchromosomal gene transposition in Drosophila. We identified 782 genes that have moved chromosomes within the phylogeny of 10 Drosophila species, including 87 gene families with multiple independent movements on different branches of the phylogeny. Using this large catalog of transposed genes, we detected accelerated sequence evolution in duplicated genes that transposed when compared to the parental copy at the original locus. We also observed a more refined picture of the biased movement of genes from the X chromosome to the autosomes. The bias of X-to-autosome movement was significantly stronger for RNA-based movements than for DNA-based movements, and among DNA-based movements there was an excess of genes moving onto the X chromosome as well. Genes involved in female-specific functions moved onto the X chromosome while genes with male-specific functions moved off the X. There was a significant overrepresentation of proteins involving chromosomal function among transposed genes, suggesting that genetic conflict between sexes and among chromosomes may be a driving force behind gene transposition in Drosophila. PMID:22095076

  5. Relations between the loop transposition of DNA G-quadruplex and the catalytic function of DNAzyme.

    PubMed

    Cheng, Mingpan; Zhou, Jun; Jia, Guoqing; Ai, Xuanjun; Mergny, Jean-Louis; Li, Can

    2017-08-01

    The structures of DNA G-quadruplexes are essential for their functions in vivo and in vitro. Our present study revealed that sequential order of the three G-quadruplex loops, that is, loop transposition, could be a critical factor to determinate the G-quadruplex conformation and consequently improved the catalytic function of G-quadruplex based DNAzyme. In the presence of 100mM K(+), loop transposition induced one of the G-quadruplex isomers which shared identical loops but differed in the sequential order of loops into a hybrid topology while the others into predominately parallel topologies. (1)D NMR spectroscopy and mutation analysis suggested that the hydrogen bonding from loops residues with nucleotides in flanking sequences may be responsible for the stabilization of the different conformations. A well-known DNAzyme consisting of G-quadruplex and hemin (Ferriprotoporphyrin IX chloride) was chosen to test the catalytic function. We found that the loop transposition could enhance the reaction rate obviously by increasing the hemin binding affinity to G-quadruplex. These findings disclose the relations between the loop transposition, G-quadruplex conformation and catalytic function of DNAzyme. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Target DNA bending by the Mu transpososome promotes careful transposition and prevents its reversal

    PubMed Central

    Fuller, James R; Rice, Phoebe A

    2017-01-01

    The transposition of bacteriophage Mu serves as a model system for understanding DDE transposases and integrases. All available structures of these enzymes at the end of the transposition reaction, including Mu, exhibit significant bends in the transposition target site DNA. Here we use Mu to investigate the ramifications of target DNA bending on the transposition reaction. Enhancing the flexibility of the target DNA or prebending it increases its affinity for transpososomes by over an order of magnitude and increases the overall reaction rate. This and FRET confirm that flexibility is interrogated early during the interaction between the transposase and a potential target site, which may be how other DNA binding proteins can steer selection of advantageous target sites. We also find that the conformation of the target DNA after strand transfer is involved in preventing accidental catalysis of the reverse reaction, as conditions that destabilize this conformation also trigger reversal. DOI: http://dx.doi.org/10.7554/eLife.21777.001 PMID:28177285

  7. An Evaluation of Frequency Transposition for Hearing-Impaired School-Age Children

    ERIC Educational Resources Information Center

    Smith, Jenny; Dann, Marilyn; Brown, P. Margaret

    2009-01-01

    A key objective when fitting hearing aids to children is to maximize the audibility of high frequency speech cues which are critical in the understanding of spoken English. Recent advances in digital signal processing have enabled the development of hearing aids which offer linear frequency transposition as a new way of accessing these important…

  8. Transposition of the great vessels: a series of three cases with a review of the literature.

    PubMed

    Yarrow, S; Russell, R

    2000-07-01

    Improvements in surgical techniques have led to increased survival in transposition of the great vessels. We present three women who required anaesthetic management for labour analgesia, instrumental delivery and evacuation of retained products; the literature is reviewed with regard to anaesthetic techniques and maternal outcome, and recommendations made for the management of this increasingly common condition.

  9. Calcified thrombus of the inferior vena cava in transposition of the great vessels.

    PubMed

    Velasquez, G; D'Souza, V J; Glass, T A; Sumner, T E; Formanek, A G

    1986-01-01

    Calcified thrombus of the inferior vena cava (IVC) in children is an entity usually not associated with significant complications. The possibility of pulmonary embolism from the soft thrombus, however, has been suggested but never reported. We give an account of a child with transposition of the great vessels who suffered embolization from a calcified thrombus in the IVC that entered the systemic circulation.

  10. Enterococcus durans endocarditis in a patient with transposition of the great vessels.

    PubMed

    Stepanović, S; Jovanović, M; Lavadinović, L; Stosović, B; Pelemis, M

    2004-03-01

    A case of native valve endocarditis caused by Enterococcus durans in a patient with transposition of the great vessels is reported. The patient was treated initially with gentamicin and ceftriaxone; after isolation of enterococci, ceftriaxone was switched to ampicillin. The only virulence factors established in the strain were haemolytic activity and biofilm formation.

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

    ERIC Educational Resources Information Center

    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…

  12. Debating trans inclusion in the feminist movement: a trans-positive analysis.

    PubMed

    Green, Eli R

    2006-01-01

    The debate over whether or not to allow, accept, and embrace transpeople as a segment of the feminist movement has been a tumultuous one that remains unresolved. Prominent authors have argued both sides of the dispute. This article analyzes the anti-inclusion feminist viewpoint and offers a trans-positive perspective for moving toward a potential resolution of the debate.

  13. IS10/Tn10 transposition efficiently accommodates diverse transposon end configurations.

    PubMed Central

    Chalmers, R M; Kleckner, N

    1996-01-01

    Transposon Tn10 and its component insertion sequence IS10 move by non-replicative transposition. We have studied the array of reaction intermediates and products in a high efficiency in vitro IS10/Tn10 transposition reaction. Synapsis of two transposon ends, followed by cleavage and strand transfer, can occur very efficiently irrespective of the relative locations and orientations of the two ends. The two participating ends can occur in inverted or direct orientation on the same molecule or, most importantly, on two different molecules. This behavior contrasts sharply with that of Mu, in which transposition is strongly biased in favor of inverted repeat synapsis. Mechanistically, the absence of discrimination amongst various end configurations implies that the architecture within the IS10/Tn10 synaptic complex is relatively simple, i.e. lacking any significant intertwining of component DNA strands. Biologically these observations are important because they suggest that the IS10 insertion sequence module has considerable flexibility in the types of DNA rearrangements that it can promote. Most importantly, it now seems highly probable that a single non-replicative IS10 element can promote DNA rearrangements usually attributed to replicative transposition, i.e. adjacent deletions and cointegrates, by utilizing transposon ends on two sister chromosomes. Other events which probably also contribute to the diversity of IS10/Tn10-promoted rearrangements are discussed. Images PMID:8890185

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

    PubMed Central

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

    2016-01-01

    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. PMID:27824140

  15. [Subtotal esophagus resection and stomach tube transposition in laryngectomized patients without loss of esophageal speech].

    PubMed

    Lörken, M; Jansen, M; Schumpelick, V

    1999-03-01

    We report the case of a 71-year-old patient who had a laryngectomy 16 years ago because of a laryngeal carcinoma and achieved voice restoration by esophageal speech. Now a squamous cell carcinoma of the esophagus had been diagnosed and was treated with a subtotal esophagectomy, stomach transposition, and collar anastomosis. Postoperatively, the patient remained esophageal speech without loss of quality.

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

    PubMed

    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.

  17. Management of congenitally missing second premolars in a growing child

    PubMed Central

    Jha, Padmanabh; Jha, Mesha

    2012-01-01

    The second premolars have the highest incidence of congenital absence, after the third molars. The problem resides not in the prevalence of congenitally missing premolars but in the selection of a treatment plan that will yield the best results over the long term. The present study reports a case of a 14 year old female patient with bilaterally congenitally missing second mandibular premolars with associated crowding of teeth. The case has been managed using a multi-speciality approach, in which both deciduous mandibular second molars were sectioned and the distal half retained. The retained half was prepared to receive a full coverage restoration which was contoured as a premolar. The space created was then utilized to correct the crowding by fixed orthodontics. A two year follow up shows retained distal half of the deciduous mandibular second molar with correction of crowding and space closure. PMID:22557822

  18. Management of congenitally missing second premolars in a growing child.

    PubMed

    Jha, Padmanabh; Jha, Mesha

    2012-04-01

    The second premolars have the highest incidence of congenital absence, after the third molars. The problem resides not in the prevalence of congenitally missing premolars but in the selection of a treatment plan that will yield the best results over the long term. The present study reports a case of a 14 year old female patient with bilaterally congenitally missing second mandibular premolars with associated crowding of teeth. The case has been managed using a multi-speciality approach, in which both deciduous mandibular second molars were sectioned and the distal half retained. The retained half was prepared to receive a full coverage restoration which was contoured as a premolar. The space created was then utilized to correct the crowding by fixed orthodontics. A two year follow up shows retained distal half of the deciduous mandibular second molar with correction of crowding and space closure.

  19. Prostaglandin E2 after septostomy for simple transposition.

    PubMed

    Beattie, Lynne Mary; McLeod, Karen A

    2009-05-01

    In simple transposition of the great arteries (sTGA), balloon atrial septostomy is performed prior to arterial switch to improve mixing of systemic and pulmonary circulations. Following septostomy, some patients are also given prostaglandin E2 (PGE2) until surgical repair. The aims of our study were to identify how often PGE2 is given after septostomy, the indications for starting PGE2, and the effect this has on postoperative outcome. The study was a retrospective review of infants born with sTGA between 2000 and 2005, who underwent arterial switch at Yorkhill Children's Hospital, Glasgow. Over a 5-year period, 26 infants (16 male) with sTGA underwent septostomy. There was a significant rise in mean oxygen saturation following septostomy (mean, 61.4 +/- 11.5% before, 81.5 +/- 9.4% after; p < 0.05). Four of 26 (15%) did not receive PGE2 at all (group 1) and 8 of 26 (30%) received PGE2 before but not after septostomy (group 2). A total of 14 of 26 infants (54%) were given PGE2 following septostomy. This comprised 11 who received PGE2 before and after septostomy (group 3) and 3 who did not receive PGE2 prior to septostomy but did after (group 4). Groups 2 and 3 were compared directly, as they both received PGE2 before septostomy. In group 3, oxygen saturations were lower when PGE2 was started compared with saturations immediately after septostomy (45 +/- 23.6% vs. 80 +/- 10.3%; p < 0.05). Groups 2 and 3 showed no difference in atrial gap after septostomy (9.4 +/- 3 vs. 8 +/- 1 mm; p > 0.05). Fifty percent of infants in group 3 underwent echocardiography prior to restarting PGE2, which revealed a patent arterial duct in all but one patient. Despite PGE2, Group 3 had lower saturations at arterial switch compared with Group 2 (71 +/- 14% vs. 82 +/- 8%; p < 0.05). No difference was observed between group 2 and group 3 with regard to length of cardiopulmonary bypass (group 2, 173 +/- 101.4 min, vs. group 3, 157.9 +/- 42.1 min; p > 0.05). However, the Intensive Care Unit

  20. Induction of transpositions of MGE Dm412 by {gamma}-radiation in an isogenic line of Drosophila melanogaster

    SciTech Connect

    Zabanov, S.A.; Vasil`eva, L.A.; Ratner, V.A. |

    1995-06-01

    In an isogenic line of Drosophila, transpositions of mobile genetic elements (MGE) Dm412 were induced by {gamma}-radiation at doses of 300, 800, and 1300 R. The rates of induced transpositions were (for each dose, respectively) 3.9 x 10{sup {minus}3}, 1.0 x 10{sup {minus}2}, and 1.87 x 10{sup {minus}2} events per occupied site per haploid genome of the isogenic line per generation. Thus, the transposition rate increased linearly with the radiation dose. The specific rate of {gamma}-radiation-induced transpositions was (1.3 {+-} 0.6) x 10{sup {minus}5} per occupied site per haploid genome of the isogenic line per Roentgen per generation. {gamma}-Radiation-induced hot transposition sites and haplotypes, very similar to those induced by heat shock, were found. It was suggested that the mechanism of induction by {gamma}-radiation involves the heat shock system. Thus, it is more similar to the mechanism of temperature induction than to the direct mutational effect of {gamma}-radiation. Estimates of induced transposition rates per genome for each dose were calculated as 1.1, 3.0, and 5.6 events, respectively, per genome per generation. This level probably corresponds to the subthreshold level of genomes near the {open_quotes}catastrophic border of transpositional losses.{close_quotes} 21 refs., 1 fig., 4 tabs.

  1. Development of an intermolecular transposition assay system in Bacillus subtilis 168 using IS4Bsu1 from Bacillus subtilis (natto).

    PubMed

    Takahashi, Kiwamu; Sekine, Yasuhiko; Chibazakura, Taku; Yoshikawa, Hirofumi

    2007-08-01

    Most of the spontaneous poly-gamma-glutamate (gamma-PGA)-deficient mutants of Bacillus subtilis (natto) appear to have resulted from the insertion of IS4Bsu1 exclusively into the comP gene. However, complete genomic analysis of B. subtilis 168, a close relative of B. subtilis (natto), revealed no IS4Bsu1 insertion. Preliminary experiments using a transformable 'natto' strain indicated that the frequency of transposition of IS4Bsu1 was exceptionally high under competence-developing conditions. On the other hand, such high-frequency transposition was not observed when cells were grown in a rich medium, such as LB medium, suggesting that there must be suitable environmental conditions that give rise to the transposition of IS4Bsu1. To assess the behaviour of IS4Bsu1 and explore any host factors playing roles in IS transposition, an intermolecular transposition assay system was constructed using a modified IS4Bsu1 element in B. subtilis 168. Here, the details of the intermolecular transposition assay system are given, and the increase in transposition frequency observed under high-temperature and competence-inducing conditions is described.

  2. Clinical and electrophysiological assessment of inferior alveolar nerve function after lateral nerve transposition.

    PubMed

    Nocini, P F; De Santis, D; Fracasso, E; Zanette, G

    1999-04-01

    Inferior alveolar nerve (IAN) transposition surgery may cause some degree of sensory impairment. Accurate and reproducible tests are mandatory to assess IAN conduction capacity following nerve transposition. In this study subjective (heat, pain and tactile-discriminative tests) and objective (electrophysiological) assessments were performed in 10 patients receiving IAN transposition (bilaterally in 8 cases) in order to evaluate any impairment of the involved nerves one year post-operatively. All patients reported a tingling, well-tolerated sensation in the areas supplied by the mental nerve with no anaesthesia or burning paresthesia. Tactile discrimination was affected the most (all but 1 patient). No action potential was recorded in 4 patients' sides (23.5%); 12 sides showed a decreased nerve conduction velocity (NCV) (70.5%) and 1 side normal NCV values (6%). There was no significant difference in NCV decrease between partial and total transposition sides, if examined separately. Nerve conduction findings were related 2-point discrimination scores, but not to changes in pain and heat sensitivity. These findings show that lateral nerve transposition, though resulting in a high percentage of minor IAN injuries, as determined by electrophysiological testing, provides a viable surgical procedure to allow implant placement in the posterior mandible without causing severe sensory complaints. Considering ethical and forensic implications, patients should be fully informed that a certain degree of nerve injury might be expected to occur from the procedure. Electrophysiological evaluation is a reliable way to assess the degree of IAN dysfunction, especially if combined with a clinical examination. Intraoperative monitoring of IAN conduction might help identify the pathogenetic mechanisms of nerve injury and the surgical steps that are most likely to harm nerve integrity.

  3. Results of shortened program of Ponseti technique for congenital clubfoot.

    PubMed

    Sugandhavesa, Nantawit; Cheewawattanachai, Chaiyarit; Luevitoonvechkij, Sirichai; Khunsree, Songsak

    2015-01-01

    To study the results and complications of congenital clubfoot treatment using a shortened (twice a week) program of serial casting using Ponseti technique. Sixteen patients with congenital clubfoot (26 feet) were treated by serial manipulation and casting twice a week until acceptable deformity correction (60 degrees of abduction with or without equinus deformity) were achieved Seventeen patients (65%) required less than three weeks in treatment to improvement in the deformity, while eight patients (30%) required more than three weeks of treatment. This period of treatment is at least two weeks shorter than the conventional Ponseti technique. One patient did not complete treatment due to hospital-acquired pneumonia. Four patients who developed pressure ulcers from the castings were continued in treatment and all achieved successful correction. A shortened program of clubfoot correction using the Ponseti technique can be effective for correcting uncomplicated clubfoot without serious complications.

  4. Adult Congenital Heart Association

    MedlinePlus

    ... my congenital heart … Read More Let's Talk About Love... BY Kelly DiMaggio Being in love and in a relationship is one of the ... are born they have … Read More Learning to Love the Scar BY Clare Almand I wrote about ...

  5. Congenital adrenal hyperplasia

    MedlinePlus

    ... or inappropriately). Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 ... penis but normal testes Well-developed muscles Both boys and girls will be tall as children, but much shorter ...

  6. Congenital sternal cleft.

    PubMed

    Biswas, G; Khandelwal, N K; Venkatramu, N K; Chari, P S

    2001-04-01

    A cleft of the sternum is a rare congenital anomaly. We present a case of a sternal cleft in a 7-year-old boy. A split iliac bone graft covered with the sternocostal portion of a pectoralis major flap was used to reconstruct the defect. Copyright 2001 The British Association of Plastic Surgeons.

  7. Anesthesia for sickle cell disease and congenital myopathy in combination.

    PubMed

    Fanning, Rebecca; O'Donnell, Brian; Lynch, Brian; Stephens, Michael; O'Donovan, Frances

    2006-08-01

    We report on the perioperative management of anesthesia and analgesia in a child with sickle cell disease and a congenital myopathy, presenting for corrective orthopedic surgery. The case illustrates two valuable points of interest: the many benefits of regional anesthesia in complex medical cases and the successful use of tourniquets in children with sickle cell disease.

  8. [Application and therapeutic effect of frontal muscle fascia compound flap suspension for congenital blepharoptosis in children].

    PubMed

    Wei, Wang; Linbo, Liu; Ximei, Wang; Xiamei, Zhai

    2014-09-01

    To investigate the application and therapeutic effect of frontal muscle fascia compound flap suspension for congenital blepharoptosis in children. From July 2010 to March 2012, 21 children (23 eyes) with congenital blepharoptosis were treated with frontal muscle fascia compound flap suspension. The therapeutic effect was observed and followed up. 17 patients were followed up for 3-6 months with relapse in one case. The ptosis was corrected in the other 1 cases. The frontal muscle fascia compound flap suspension is effective and practical with minimal morbidity and lower complication for the correction of congenital blepharoptosis.

  9. Prevalence of severe congenital heart disease after folic acid fortification of grain products: time trend analysis in Quebec, Canada.

    PubMed

    Ionescu-Ittu, Raluca; Marelli, Ariane J; Mackie, Andrew S; Pilote, Louise

    2009-05-12

    To investigate whether the 1998 government policy for mandatory fortification of flour and pasta products with folate was followed by a reduction in the prevalence of severe congenital heart defects. Time trend analysis. Province of Quebec, Canada. Infants born in 1990-2005 identified with severe congenital heart defects (tetralogy of Fallot, endocardial cushion defects, univentricular hearts, truncus arteriosus, or transposition complexes) in Quebec administrative databases. Data analysed in two time periods (before and after fortification). Birth prevalence measured annually as infants (live and stillbirths) with severe congenital heart defects per 1000 births in Quebec. Changes in the birth prevalence from the period before to the period after fortification were estimated with Poisson regression. Among the 1, 324,440 births in Quebec in 1990-2005 there were 2083 infants born with severe congenital heart defects, corresponding to an average birth prevalence of 1.57/1000 births. Time trend analysis showed no change in the birth prevalence of severe birth defects in the nine years before fortification (rate ratio 1.01, 95% confidence interval 0.99 to 1.03), while in the seven years after fortification there was a significant 6% decrease per year (0.94, 0.90 to 0.97). Public health measures to increase folic acid intake were followed by a decrease in the birth prevalence of severe congenital heart defects. These findings support the hypothesis that folic acid has a preventive effect on heart defects.

  10. [Dome shaped osteotomy combined with transposition of the ulnar nerve as a treatment for post-traumatic ulnar valgus in a pediatric patient].

    PubMed

    Pino-Almero, L; Mínguez-Rey, M F; Gomar-Sancho, F

    2015-01-01

    A sequel of supracondylar fractures of distal humerus in children is the angular deformity. It is usually more frequent cubitus varus, but there are reported cases of cubitus valgus. The latter may be the cause of the occurrence of a late ulnar nerve neuropathy, which will require treatment. There is controversy as to whether it is possible to successfully treat both problems at the same surgical procedure. This article describes the case of a girl of 11 years old, who has a cubitus valgus deformity secondary to supracondylar fracture of distal humerus of right elbow at the age of seven years, associated with progressive symptoms of ulnar nerve neuropathy. This patient was treated successfully by a single procedure for corrective dome-shaped supracondilar osteotomy associated with subcutaneous anterior transposition of the ulnar nerve through a posterior approach.

  11. Correction of Excyclotropia by Surgery on the Inferior Rectus Muscle in Patients with Thyroid Eye Disease: A Retrospective, Observational Study

    PubMed Central

    Takahashi, Yasuhiro; Kitaguchi, Yoshiyuki; Nakakura, Shunsuke; Mito, Hidenori; Kimura, Akiko; Kakizaki, Hirohiko

    2016-01-01

    Purpose To examine the characteristics of excyclotropia correction through surgery on the inferior rectus muscle in patients with thyroid eye disease. Methods This was a retrospective, observational study at a single institution. We reviewed 36 patients who had undergone unilateral inferior rectus muscle recession, with or without nasal inferior rectus muscle transposition. The following factors were investigated as possibly influencing excyclotropia correction: inferior rectus muscle thickness, degree of adipose change in the inferior rectus muscle, smoking status, history of orbital radiotherapy, and the amount of inferior rectus muscle recession. Using T1-weighted coronal magnetic resonance imaging, we measured the cross-sectional area of the inferior rectus muscle at its largest point, as well as the bright-signal area of the inferior rectus muscle, which reflects intermuscular adipose change. We then calculated the percentage internal bright-signal area at the point of the largest inferior rectus muscle cross-sectional area. The history of orbital radiotherapy was graded using a binary system. We evaluated correlations among excyclotropia correction, the amount of nasal inferior rectus muscle transposition, and the possible influencing factors listed, using stepwise multiple regression analyses. Results The multiple regression model demonstrated a significant relationship among excyclotropia correction, amount of nasal inferior rectus muscle transposition, and the amount of inferior rectus muscle recession (YCORRECTION = 8.546XTENDON WIDTH + 0.405XRECESSION− 0.908; r = 0.844; adjusted r2 = 0.695; P < 0.001). Conclusions Excyclotropia correction was correlated with the amount of nasal inferior rectus muscle transposition and the amount of inferior rectus muscle recession, but not with the other factors. The regression model presented in this study will enable us to determine more precisely the amount of nasal inferior rectus muscle transposition in patients

  12. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.

    PubMed

    Nimkarn, Saroj; Lin-Su, Karen; New, Maria I

    2011-10-01

    Steroid 21 hydroxylase deficiency is the most common form of congenital adrenal hyperplasia (CAH). The severity of this disorder depends on the extent of impaired enzymatic activity, which is caused by various mutations of the 21 hydroxylase gene. This article reviews adrenal steroidogenesis and the pathophysiology of 21 hydroxylase deficiency. The three forms of CAH are then discussed in terms of clinical presentation, diagnosis and treatment, and genetic basis. Prenatal diagnosis and treatment are also reviewed. The goal of therapy is to correct the deficiency in cortisol secretion and suppress androgen overproduction. Glucocorticoid replacement has been the mainstay of treatment for CAH, but new treatment strategies continue to be developed and studied.

  13. Spontaneous closure of congenital coronary artery fistulas.

    PubMed

    Schleich, J M; Rey, C; Gewillig, M; Bozio, A

    2001-04-01

    Six cases of full spontaneous closure of congenital coronary artery fistulas, and one case of near closure, as seen by colour Doppler echocardiography, are presented. It is worth reconsidering the classical view that nearly all cases of spontaneous closure are eligible for surgical or percutaneous correction to prevent the development of significant and potentially fatal complications. As the natural course of coronary artery fistulas is still poorly defined, asymptomatic patients, especially those under 7 years old with small shunts, should be periodically followed up by echocardiography rather than be subjected to operative closure, even by catheterisation.

  14. Transposition of the great vessels. Pathophysiologic considerations based upon a study of the lungs.

    PubMed

    Ferencz, C

    1966-02-01

    A microscopic study of the lungs of 106 patients with transposition of the great vessels has revealed early and severe hypertensive alterations in the pulmonary arteries. These striking changes, associated in almost all instances with normal pulmonary veins, indicate a state of high resistance of the arterial bed. Pulmonary arterial damage was, in general, most advanced in the patients with a large ventricular septal defect, but in spite of this these were the patients who lived longest. It seemed obvious, therefore, that their relatively favorable course was due to a greater beneficial than damaging effect of the ventricular septal defect. Consideration of these findings in the light of known physiologic data has led to a clarification of the physiologic variations of the transposition circulation. Using the recognized physiologic definitions of flows and shunts the transposition circulation is characterized by a diminished effective flow and a bidirectional but predominantly left-to-right shunt. The effect of a large intracardiac communication is to increase the effective flow and to lessen the shunts. With increasing size of the intracardiac communication the spectrum is completed when the circulatory characteristics of a single ventricle are reached in which the anatomic position of the great vessels becomes physiologically insignificant. The effect of a common systolic ejectile force in patients with a large ventricular septal defect will be similar in the transposition circulation and in the normal circulation. Three physiologic states are possible which depend upon the relative magnitude of the systemic and pulmonary resistances. The early appearance and malignant nature of the hypertensive alterations in the pulmonary arteries of patients with transposition of the great vessels suggest that the impact upon the lungs of high blood flow and pressure is aggravated by arterial vasoconstriction. This may be initiated by anoxia and a lowered blood pH. Elevation

  15. New domino transposition/intramolecular Diels-Alder reaction in monocyclic allenols: a general strategy for tricyclic compounds.

    PubMed

    Alcaide, Benito; Almendros, Pedro; Aragoncillo, Cristina; Redondo, María C

    2002-07-21

    A novel and direct synthetic strategy to prepare fused tricycles has been developed from monocyclic allenols, masked functionalized dienes, which underwent a domino allenol transposition/intramolecular Diels-Alder reaction.

  16. [Study of the transcriptional and transpositional activities of the Tirant retrotransposon in Drosophila melanogaster strains mutant for the flamenco locus].

    PubMed

    Nefedova, L N; Urusov, F A; Romanova, N I; Shmel'kova, A O; Kim, A I

    2012-11-01

    Transpositions of the gypsy retrotransposon in the Drosophila melanogaster genome are controlled by the flamenco locus, which is represented as an accumulation of defective copies of transposable elements. In the present work, genetic control by the flamenco locus of the transcriptional and transpositional activities of the Tirant retrotransposon from the gypsy group was studied. Tissue-specific expression of Tirant was detected in the tissues of ovaries in a strain mutant for the flamenco locus. Tirant was found to be transpositionally active in isogenic D. melanogaster strains mutant for the flamenco locus. The sites of two new insertions have been localized by the method of subtractive hybridization. It has been concluded from the results obtained that the flamenco locus is involved in the genetic control of Tirant transpositions.

  17. Surgical Treatment of Congenital Hallux Varus

    PubMed Central

    Shim, Jong Sup; Koh, Kyoung Hwan; Lee, Do Kyung

    2014-01-01

    Background The purpose of this study was to report outcomes of congenital hallux varus deformity after surgical treatment. Methods We evaluated ten feet of eight patients with a congenital hallux varus deformity, including four feet combined with a longitudinal epiphyseal bracket (LEB). There were seven male patients and one female patient with a mean age of 33 months (range, 7 to 103 months) at the time of surgery. Two patients were bilaterally involved. The mean duration of follow-up was 5.9 years (range, 2.3 to 13.8 years). Clinical outcomes were assessed according to the criteria of Phelps and Grogan. Surgical procedures included the Farmer procedure, the McElvenny procedure or an osteotomy at the first metatarsal or proximal phalanx. Results The clinical results were excellent in two feet, good in six and poor in two feet. The LEB was associated with hallux varus in four feet and were treated by osteotomy alone or in conjunction with soft tissue procedure. Conclusions Congenital hallux varus was successfully corrected by surgery with overall favorable outcome. Preoperatively, a LEB should be considered as a possible cause of the deformity in order to prevent recurrent or residual varus after surgery. PMID:24900905

  18. Congenital Urinary Tract Obstruction: The Long View

    PubMed Central

    Chevalier, Robert L.

    2015-01-01

    Maldevelopment of the collecting system resulting in urinary tract obstruction (UTO) is the leading identifiable cause of CKD in children. Specific etiologies are unknown; most cases are suspected by discovering hydronephrosis on prenatal ultrasonography. Congenital UTO can reduce nephron number and cause bladder dysfunction, which contribute to ongoing injury. Severe UTO can impair kidney growth in utero, and animal models of unilateral ureteral obstruction show that ischemia and oxidative stress cause proximal tubular cell death, with later development of interstitial fibrosis. Congenital obstructive nephropathy therefore results from combined developmental and obstructive renal injury. Due to inadequacy of available biomarkers, criteria for surgical correction of upper tract obstruction are poorly established. Lower tract obstruction requires fetal or immediate postnatal intervention, and the rate of progression of CKD is highly variable. New biomarkers based on proteomics and determination of glomerular number by MRI should improve future care. Angiotensin inhibitors have not been effective in slowing progression, although avoidance of nephrotoxins and timely treatment of hypertension are important. Because congenital UTO begins in fetal life, smooth transfer of care from perinatologist to pediatric and adult urology and nephrology teams should optimize quality of life and ultimate outcomes for these patients. PMID:26088076

  19. Fetal congenital lobar emphysema.

    PubMed

    Chia, Chun-Chieh; Huang, Soon-Cen; Liu, Min-Chang; Se, Tung-Yi

    2007-03-01

    To report a rare fetal congenital lung anomaly characterized by over inflation of a pulmonary lobe. A 28-year-old systemic lupus erythematous mother, gravida 1 para 0, who had normal prenatal care in our department, was admitted for labor pain and an abnormal fetal heart location was noted incidentally during labor. The baby showed rib retraction in room air but no obvious cyanotic change after delivery. Both the fetus chest X-ray and ultrasound showed a hyperechogenic tumor in the left thoracic cavity with a right-side-shifted heart and trachea. Computed tomography showed a hypodense and multiseptal tumor in the left thoracic cavity with right-sided shift of the heart and trachea. It was a soft, solid tumor in the parenchyma of the left lung and the histopathology confirmed it to be benign congenital lobar emphysema. The favorable outcome in both asymptomatic and mildly symptomatic children suggests that a nonsurgical approach should be considered for these patients.

  20. Congenital Orbital Teratoma.

    PubMed

    Pellerano, Fernando; Guillermo, Elvis; Garrido, Gloreley; Berges, Pedro

    2017-01-01

    We report a case of congenital orbital teratoma. A 3-day-old male, born at 39 weeks' gestation without relevant prenatal history, presented with a large vascularized proptotic mass distorting the left midface. Laboratory studies showed elevated serum alpha-fetoprotein (12,910 ng/ml). Computed tomography showed a multiloculated heterogeneous lesion composed of hypodense and hyperdense calcified areas encompassing the whole orbital cavity with expansion of the bony walls, as well as forward displacement and compression of the eyeball without extension to surrounding structures. Clinical, imaging and laboratory features were consistent with congenital orbital teratoma. Due to pronounced proptosis with exposure keratopathy and corneal perforation, no motility of the globe and no vision in the affected eye in a resource-limited setting, the patient underwent orbital exenteration. Histopathological examination confirmed the diagnosis of mature cystic teratoma. We describe the clinical course, radiographic and histopathological findings of this rare orbital tumor.

  1. [Congenital esophageal diverticulum].

    PubMed

    Belío-Castillo, C; Bracho-Blanchet, E; Blanco-Rodríguez, G

    1990-08-01

    The congenital or acquired variety of esophageal diverticulum is a rare childhood disease. Reported is a case-study which deals with a five year old patient who arrived at our hospital complaining of a constricture at the cricopharyngeal level. A month later he returned to the hospital with dysphasia and regurgitation; the X-rays and endoscopic diagnosis showed stenosis of the esophagus and the presence of an esophageal diverticulum. Esophageal dilatations were carried out until an acceptable esophageal diameter was reached. Later on, the surgical removal of the diverticulum was performed without any complications. The histopathological study showed the congenital nature of the diverticulum. The patient's recovery went well and is currently considered as cured.

  2. Congenital omental cyst

    PubMed Central

    Gupta, Rakesh Kumar; Sah, Suresh; Sah, Panna Lal; Shah, Birendra Prasad

    2012-01-01

    Congenital omental cysts are rare intra-abdominal pathology, which are difficult to diagnose preoperatively; as such a high index of suspicion is required for accurate preoperative diagnosis. We present a case of congenital omental cyst in a 3-year-old girl who presented with huge abdominal distension. We performed diagnostic examinations including ultrasonography and CT of the abdomen. An omental cyst was diagnosed because of its position and connection to the surrounding tissues. She was operated and cyst was excised completely. Histological examination revealed an omental cyst with endothelial lining and haemorrhagic fluid inside. She had an uneventful recovery and doing well, without recurrence at follow-up of 24 months. Clinicians must rigorously pursue a preoperative diagnosis, as it may prevent a surprise upon laparotomy and result in proper management. PMID:22865812

  3. Congenital Orbital Teratoma

    PubMed Central

    Pellerano, Fernando; Guillermo, Elvis; Garrido, Gloreley; Berges, Pedro

    2017-01-01

    We report a case of congenital orbital teratoma. A 3-day-old male, born at 39 weeks’ gestation without relevant prenatal history, presented with a large vascularized proptotic mass distorting the left midface. Laboratory studies showed elevated serum alpha-fetoprotein (12,910 ng/ml). Computed tomography showed a multiloculated heterogeneous lesion composed of hypodense and hyperdense calcified areas encompassing the whole orbital cavity with expansion of the bony walls, as well as forward displacement and compression of the eyeball without extension to surrounding structures. Clinical, imaging and laboratory features were consistent with congenital orbital teratoma. Due to pronounced proptosis with exposure keratopathy and corneal perforation, no motility of the globe and no vision in the affected eye in a resource-limited setting, the patient underwent orbital exenteration. Histopathological examination confirmed the diagnosis of mature cystic teratoma. We describe the clinical course, radiographic and histopathological findings of this rare orbital tumor. PMID:28275597

  4. Neuropsychological and Psychiatric Outcomes in Dextro-Transposition of the Great Arteries across the Lifespan: A State-of-the-Art Review.

    PubMed

    Kasmi, Leila; Bonnet, Damien; Montreuil, Michèle; Kalfa, David; Geronikola, Nikoletta; Bellinger, David C; Calderon, Johanna

    2017-01-01

    Advances in prenatal diagnosis, perioperative management, and postoperative care have dramatically increased the population of survivors of neonatal and infant heart surgery. The high survival rate of these patients into adulthood has exposed the alarming prevalence of long-term neuropsychological and psychiatric morbidities. Dextro-transposition of the great arteries (d-TGA) is one of the most extensively studied cyanotic congenital heart defect (CHD) with regard to neurodevelopmental outcomes. Landmark studies have described a common neurodevelopmental and behavioral phenotype associated with d-TGA. Children with d-TGA display impairments in key neurocognitive areas, including visual-spatial and fine motor abilities, executive functioning, processing speed, and social cognition. As they grow older, they may face additional challenges with a worsening of deficits in higher order cognitive skills, problems in psychosocial adjustment and a higher-than-expected rate of psychiatric disorders, such as attention-deficit hyperactivity disorder, depression, and anxiety. The aim of this review is to summarize the available recent data on neuropsychological and psychiatric outcomes in individuals with d-TGA after the arterial switch operation. We present findings within a life-span perspective, with a particular emphasis on the emerging literature on adolescent and young adult outcomes. Finally, we propose avenues for future research in the CHD adult neuropsychology field. Among these avenues, we explore the potential mechanisms by which pediatric neurodevelopmental impairments may have lifelong adverse effects as well as alternative interventions that could optimize outcomes.

  5. Pacemaker laser lead extraction and reimplantation of dual-chamber implantable cardioverter defibrillator via Mustard baffle in complete transposition of great arteries

    PubMed Central

    Simpson, Leo; Bhella, Paul S.; Schussler, Jeffrey M.; Grayburn, Paul A.

    2010-01-01

    We present a case of a complicated lead extraction and reimplantation of an implantable cardioverter defibrillator (ICD) in a young woman with complete transposition of great arteries (CTGA), a cyanotic congenital heart defect in which the aorta and the pulmonary trunk are transposed. The malformation results in two parallel circulations, whereby the left ventricle is attached to the pulmonary trunk and the right ventricle is attached to the aorta. Survival depends on the mixing of these two circulations at the level of the atria or ventricles or great arteries. Balloon atrial septostomy and creation of an intra-atrial baffle are procedures that increase atrial mixing, increase systemic oxygenation, and hence improve survival. With the improved survival of patients with CTGA, there is an increasing need for permanent pacemakers (PPMs) and ICDs for rhythm disturbances. These leads and/or devices are often inserted when the patients are very young and need to be replaced or explanted in adulthood due to device or lead malfunction, device-associated infection, or generator replacement or upgrades. These procedures are often complicated by the patients' complex anatomy and/or shunts. We describe a patient with CTGA who had an intra-atrial baffle and a nonfunctioning dual-chamber PPM. The lead was extracted via the baffle and the old PPM was upgraded to an ICD. Such descriptions are rare. PMID:20671822

  6. Pacemaker laser lead extraction and reimplantation of dual-chamber implantable cardioverter defibrillator via Mustard baffle in complete transposition of great arteries.

    PubMed

    Simpson, Leo; Bhella, Paul S; Schussler, Jeffrey M; Grayburn, Paul A; Assar, Manish

    2010-07-01

    We present a case of a complicated lead extraction and reimplantation of an implantable cardioverter defibrillator (ICD) in a young woman with complete transposition of great arteries (CTGA), a cyanotic congenital heart defect in which the aorta and the pulmonary trunk are transposed. The malformation results in two parallel circulations, whereby the left ventricle is attached to the pulmonary trunk and the right ventricle is attached to the aorta. Survival depends on the mixing of these two circulations at the level of the atria or ventricles or great arteries. Balloon atrial septostomy and creation of an intra-atrial baffle are procedures that increase atrial mixing, increase systemic oxygenation, and hence improve survival. With the improved survival of patients with CTGA, there is an increasing need for permanent pacemakers (PPMs) and ICDs for rhythm disturbances. These leads and/or devices are often inserted when the patients are very young and need to be replaced or explanted in adulthood due to device or lead malfunction, device-associated infection, or generator replacement or upgrades. These procedures are often complicated by the patients' complex anatomy and/or shunts. We describe a patient with CTGA who had an intra-atrial baffle and a nonfunctioning dual-chamber PPM. The lead was extracted via the baffle and the old PPM was upgraded to an ICD. Such descriptions are rare.

  7. Neuropsychological and Psychiatric Outcomes in Dextro-Transposition of the Great Arteries across the Lifespan: A State-of-the-Art Review

    PubMed Central

    Kasmi, Leila; Bonnet, Damien; Montreuil, Michèle; Kalfa, David; Geronikola, Nikoletta; Bellinger, David C.; Calderon, Johanna

    2017-01-01

    Advances in prenatal diagnosis, perioperative management, and postoperative care have dramatically increased the population of survivors of neonatal and infant heart surgery. The high survival rate of these patients into adulthood has exposed the alarming prevalence of long-term neuropsychological and psychiatric morbidities. Dextro-transposition of the great arteries (d-TGA) is one of the most extensively studied cyanotic congenital heart defect (CHD) with regard to neurodevelopmental outcomes. Landmark studies have described a common neurodevelopmental and behavioral phenotype associated with d-TGA. Children with d-TGA display impairments in key neurocognitive areas, including visual–spatial and fine motor abilities, executive functioning, processing speed, and social cognition. As they grow older, they may face additional challenges with a worsening of deficits in higher order cognitive skills, problems in psychosocial adjustment and a higher-than-expected rate of psychiatric disorders, such as attention-deficit hyperactivity disorder, depression, and anxiety. The aim of this review is to summarize the available recent data on neuropsychological and psychiatric outcomes in individuals with d-TGA after the arterial switch operation. We present findings within a life-span perspective, with a particular emphasis on the emerging literature on adolescent and young adult outcomes. Finally, we propose avenues for future research in the CHD adult neuropsychology field. Among these avenues, we explore the potential mechanisms by which pediatric neurodevelopmental impairments may have lifelong adverse effects as well as alternative interventions that could optimize outcomes. PMID:28393063

  8. Glomuvenous malformation in a boy with transposition of the great vessels: a case report and review of literature.

    PubMed

    Chen, Amy Y Y; Eide, Melody; Shwayder, Tor

    2009-01-01

    We report a case of glomuvenous malformation (GVM) in an 11-year-old boy with a history of transposition of the great vessels. The glomulin gene was discovered in 1999, and multiple mutations have been identified with some of the mutations resulting in GVM. The molecular genetics, clinical presentation, histopathology, differential diagnosis, and management of GVM are reviewed. To our knowledge, no case of glomuvenous malformation in the setting of transposition of the great vessels has ever been reported in the literature.

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

    PubMed

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

    2015-01-01

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

  10. Congenital varicella syndrome.

    PubMed

    Sasidharan, C K; Anoop, P

    2003-01-01

    The fetal consequences of chickenpox complicating pregnancy depends on the period of gestation at which the infection is contracted. The extremely rare classical form of congenital varicella syndrome, resulting from maternal varicella infection in the first trimester of pregnancy, is being reported here. The unusual features in this baby are bilateral hypoplastic lower extremities, fracture of bones, a normal electroencephalogram and phantom hernias of the anterior abdominal wall.

  11. Congenital amaurosis of Leber.

    PubMed

    Gillespie, F D

    1966-05-01

    In two families with congenital amaurosis of Leber, keratoglobus was found in all affected members and posterior subcapsular cataracts in most of them. Consanguinity was present in one family. Pathologic findings in one enucleated eye were presented. The literature on this disease was briefly reviewed. Whether the disease is a definite clinical or genetic entity and whether it might be an agenesis or an abiotrophy, or both, were discussed.

  12. Congenital midline cervical cleft.

    PubMed

    Agag, Richard; Sacks, Justin; Silver, Lester

    2007-01-01

    Congenital midline cervical cleft (CMCC) is a rare disorder of the ventral neck that is clinically evident at birth and must be differentiated from the more common thyroglossal duct cyst. The case of CMCC presented here was associated with chromosomes 13/14 de novo Robertsonian translocations as well as midline deformities including a sacral tuft and a minor tongue-tie. The case is presented as well as discussion of histopathology, embryology, and surgical treatment.

  13. Leber congenital amaurosis.

    PubMed

    Perrault, I; Rozet, J M; Gerber, S; Ghazi, I; Leowski, C; Ducroq, D; Souied, E; Dufier, J L; Munnich, A; Kaplan, J

    1999-10-01

    Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born to affected parents. In 1995, we localized the first disease causing gene, LCA1, to chromosome 17p13 and confirmed the genetic heterogeneity. In 1996, we ascribed LCA1 to mutations in the photoreceptor-specific guanylate cyclase gene (retGC1). RetGC1 is an essential protein implicated in the phototransduction cascade, especially in the recovery of the dark state after the excitation process of photoreceptor cells by light stimulation. In 1997, mutations in a second gene were reported in LCA, the RPE65 gene, which is the first specific retinal pigment epithelium gene. The protein RPE65 is implicated in the metabolism of vitamin A, the precursor of the photoexcitable retinal pigment (rhodopsin). Finally, a third gene, CRX, implicated in photoreceptor development, has been suspected of causing a few cases of LCA. Taken together, these three genes account for only 27% of LCA cases in our series. The three genes encode proteins that are involved in completely different physiopathologic pathways. Based on these striking differences of physiopathologic processes, we reexamined all clinical physiopathological discrepancies and the results strongly suggested that retGC1 gene mutations are responsible for congenital stationary severe cone-rod dystrophy, while RPE65 gene mutations are responsible for congenital severe but progressive rod-cone dystrophy. It is of tremendous importance to confirm and to refine these genotype-phenotype correlations on a large scale in order to anticipate the final outcome in a blind infant, on the one hand, and to further guide genetic studies in older patients on the other hand.

  14. Myopathology in congenital myopathies.

    PubMed

    Sewry, C A; Wallgren-Pettersson, C

    2017-02-01

    Congenital myopathies are clinically and genetically a heterogeneous group of early onset neuromuscular disorders, characterized by hypotonia and muscle weakness. Clinical severity and age of onset are variable. Many patients are severely affected at birth while others have a milder, moderately progressive or nonprogressive phenotype. Respiratory weakness is a major clinical aspect that requires regular monitoring. Causative mutations in several genes have been identified that are inherited in a dominant, recessive or X-linked manner, or arise de novo. Muscle biopsies show characteristic pathological features such as nemaline rods/bodies, cores, central nuclei or caps. Small type 1 fibres expressing slow myosin are a common feature and may sometimes be the only abnormality. Small cores (minicores) devoid of mitochondria and areas showing variable myofibrillar disruption occur in several neuromuscular disorders including several forms of congenital myopathy. Muscle biopsies can also show more than one structural defect. There is considerable clinical, pathological and genetic overlap with mutations in one gene resulting in more than one pathological feature, and the same pathological feature being associated with defects in more than one gene. Increasing application of whole exome sequencing is broadening the clinical and pathological spectra in congenital myopathies, but pathology still has a role in clarifying the pathogenicity of gene variants as well as directing molecular analysis. © 2016 British Neuropathological Society.

  15. Congenital hearing loss.

    PubMed

    Korver, Anna M H; Smith, Richard J H; Van Camp, Guy; Schleiss, Mark R; Bitner-Glindzicz, Maria A K; Lustig, Lawrence R; Usami, Shin-Ichi; Boudewyns, An N

    2017-01-12

    Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing screening programmes enable early detection; early intervention will prevent delays in speech and language development and has long-lasting beneficial effects on social and emotional development and quality of life. A diagnosis of hearing loss is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus infection, are also a common risk factor for hearing loss. Genetic causes probably account for the majority of cases in developed countries; mutations can affect any component of the hearing pathway, in particular, inner ear homeostasis (endolymph production and maintenance) and mechano-electrical transduction (the conversion of a mechanical stimulus into electrochemical activity). Once the underlying cause of hearing loss is established, it might direct therapeutic decision making and guide prevention and (genetic) counselling. Management options include specific antimicrobial therapies, surgical treatment of craniofacial abnormalities and implantable or non-implantable hearing devices. An improved understanding of the pathophysiology and molecular mechanisms that underlie hearing loss and increased awareness of recent advances in genetic testing will promote the development of new treatment and screening strategies.

  16. Severe congenital neutropenias.

    PubMed

    Skokowa, Julia; Dale, David C; Touw, Ivo P; Zeidler, Cornelia; Welte, Karl

    2017-06-08

    Severe congenital neutropenias are a heterogeneous group of rare haematological diseases characterized by impaired maturation of neutrophil granulocytes. Patients with severe congenital neutropenia are prone to recurrent, often life-threatening infections beginning in their first months of life. The most frequent pathogenic defects are autosomal dominant mutations in ELANE, which encodes neutrophil elastase, and autosomal recessive mutations in HAX1, whose product contributes to the activation of the granulocyte colony-stimulating factor (G-CSF) signalling pathway. The pathophysiological mechanisms of these conditions are the object of extensive research and are not fully understood. Furthermore, severe congenital neutropenias may predispose to myelodysplastic syndromes or acute myeloid leukaemia. Molecular events in the malignant progression include acquired mutations in CSF3R (encoding G-CSF receptor) and subsequently in other leukaemia-associated genes (such as RUNX1) in a majority of patients. Diagnosis is based on clinical manifestations, blood neutrophil count, bone marrow examination and genetic and immunological analyses. Daily subcutaneous G-CSF administration is the treatment of choice and leads to a substantial increase in blood neutrophil count, reduction of infections and drastic improvement of quality of life. Haematopoietic stem cell transplantation is the alternative treatment. Regular clinical assessments (including yearly bone marrow examinations) to monitor treatment course and detect chromosomal abnormalities (for example, monosomy 7 and trisomy 21) as well as somatic pre-leukaemic mutations are recommended.

  17. [Congenital insensitivity to pain].

    PubMed

    Popko, Janusz; Karpiński, Michał; Guszczyn, Tomasz

    2014-02-01

    Congenital insensitivity to pain belongs to rare diseases called hereditary sensory neuropathy (HSN). The disturbance of sense and secondary harms are creating clinical picture. The aim of this report was to describe therapeutic problems with which we met with a three siblings with congenital insensitivity to pain. The authors have described three children with congenital insensitivity to pain. The disease was diagnosed at the age of 3-5. These children painlessly have broken their lower limbs. These fractures were late diagnosed what resulted in a badly healed deformation of legs. For this reason, the right knee of the oldest boy had to be stiffened. This boy had also late diagnosed the left hip luxation, and hematomas had arisen, which become filled with pus. The boy was in sepsis and a dramatic life-and-death struggle was performed. A purulent focuses were removed from abdomen and femoral head was also resected. The other two siblings had fractures and infections, but not such severe as the oldest boy. It is well known that a causal treatment of this disease in unknown. Patients must learn to avoid mechanical and thermal trauma. It is the only way to prevent complications of this disease.

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

    PubMed Central

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

    2016-01-01

    Congenital dislocation of the knee (CDK) is a rare disorder. We report the case of a 7-year-old girl with bilateral knee stiffness, marked anterior bowing of both legs, and inability to walk without aid. Radiologic investigation revealed bilateral knee joint dislocation accompanied by severe anterior bowing of both tibia proximally and posterior bowing of both femur distally, demonstrating a complicated congenital knee dislocation. Two-staged open reduction with proximal tibial osteotomy was performed to align the reduced knee joints. The patient was completely independent in her daily activities after surgical correction. PMID:27847857

  19. Congenital abnormalities and multiple sclerosis.

    PubMed

    Ramagopalan, Sreeram V; Guimond, Colleen; Criscuoli, Maria; Dyment, David A; Orton, Sarah-Michelle; Yee, Irene M; Ebers, George C; Sadovnick, Dessa

    2010-11-16

    There is a strong maternal parent-of-origin effect in determining susceptibility to multiple sclerosis (MS). One hypothesis is that an abnormal intrauterine milieu leading to impaired fetal development could plausibly also result in increased susceptibility to MS. A possible marker for this intrauterine insult is the presence of a non-fatal congenital anomaly. We investigated whether or not congenital anomalies are associated with MS in a population-based cohort. We identified 7063 MS index cases and 2655 spousal controls with congenital anomaly information from the Canadian Collaborative Project on Genetic Susceptibility to MS (CCPGSMS). The frequency of congenital anomalies were compared between index cases and controls. No significant differences were found. Congenital anomalies thus do not appear to be associated with MS. However, we did not have complete data on types and severity of congenital anomalies or on maternal birth history and thus this study should be regarded as preliminary.

  20. Purification and characterization of TnsC, a Tn7 transposition protein that binds ATP and DNA.

    PubMed Central

    Gamas, P; Craig, N L

    1992-01-01

    The bacterial transposon Tn7 encodes five transposition genes tnsABCDE. We report a simple and rapid procedure for the purification of TnsC protein. We show that purified TnsC is active in and required for Tn7 transposition in a cell-free recombination system. This finding demonstrates that TnsC participates directly in Tn7 transposition and explains the requirement for tnsC function in Tn7 transposition. We have found that TnsC binds adenine nucleotides and is thus a likely site of action of the essential ATP cofactor in Tn7 transposition. We also report that TnsC binds non-specifically to DNA in the presence of ATP or the generally non-hydrolyzable analogues AMP-PNP and ATP-gamma-S, and that TnsC displays little affinity for DNA in the presence of ADP. We speculate that TnsC plays a central role in the selection of target DNA during Tn7 transposition. Images PMID:1317955

  1. Vertical muscle transposition with silicone band belting in VI nerve palsy

    PubMed Central

    Freitas, Cristina

    2016-01-01

    A woman aged 60 years developed a Millard-Gubler syndrome after a diagnosis of a cavernous angioma in the median and paramedian areas of the pons. In this context, she presented a right VI nerve palsy, right conjugate gaze palsy, facial palsy and left hemiparesis. To improve the complete VI nerve palsy, we planned a modified transposition approach, in which procedure we made a partial transposition of vertical rectus with a silicone band that was fixated posteriorly. After the procedure, the patient gained the ability to slightly abduct the right eye. We found no compensatory torticollis in the primary position of gaze. There was also an improvement of elevation and depression movements of the right eye. We obtained satisfactory results with a theoretically reversible technique, which is adjustable intraoperatively with no need of muscle detachment, preventing anterior segment ischaemia and allowing simultaneous recession of the medial rectus muscles, if necessary. PMID:27974341

  2. Polymorphisms on the right arm of yeast chromosome III associated with Ty transposition and recombination events.

    PubMed Central

    Warmington, J R; Green, R P; Newlon, C S; Oliver, S G

    1987-01-01

    The region of Saccharomyces cerevisiae chromosome III centromere-distal to the PGK gene is the site of frequent chromosome polymorphisms. We have sequenced this region from fragments of chromosome III isolated from three different yeast strains, GRF88, CN31C and CF4-16B. The sequence analysis demonstrates that these polymorphisms are associated with the presence of Ty and delta elements and defines a region of the chromosome which is a hot-spot for transposition events (the RAHS). The three strains can be arranged into a logical evolutionary series in which successive transposition and recombination events insert Ty elements and fuse them with consequent deletions of chromosome and of transposon sequences. The influence of such events on yeast genome evolution is discussed. Images PMID:2825123

  3. Analysis of the Superconducting Cable Transposition in Low Resistance CICC Joint

    NASA Astrophysics Data System (ADS)

    Zhu, You-hua

    2000-08-01

    In an integrated structure low resistance CICC joint, current is conducted by outer cable strands coming into touch with the conductive Cu sole. So it is an important condition for satisfying joint performance that each strand of the cable inside the joint is able to come to the outermost by transposition. This paper presents analysis, calculation and figures for the strand transposition. According to the twist procedures of the superconducting cable, the author computed the actual pitch of each stage cable, consecutively computed the projection of each stage cable on the axis of the cable (z axis) and the corresponding twist angle as the z coordinate changes, which is then drawn by AutoCAD. From the results shown in the figures, the minimal cable length, which enables each strand to transpose almost equally to the outermost of the cable in such a length, can be determined as the optimal joint length.

  4. Pig transgenesis by piggyBac transposition in combination with somatic cell nuclear transfer.

    PubMed

    Wu, Zhenfang; Xu, Zhiqian; Zou, Xian; Zeng, Fang; Shi, Junsong; Liu, Dewu; Urschitz, Johann; Moisyadi, Stefan; Li, Zicong

    2013-12-01

    The production of animals by somatic cell nuclear transfer (SCNT) is inefficient, with approximately 2% of micromanipulated oocytes going to term and resulting in live births. However, it is the most commonly used method for the generation of cloned transgenic livestock as it facilitates the attainment of transgenic animals once the nuclear donor cells are stably transfected and more importantly as alternatives methods of transgenesis in farm animals have proven even less efficient. Here we describe piggyBac-mediated transposition of a transgene into porcine primary cells and use of these genetically modified cells as nuclear donors for the generation of transgenic pigs by SCNT. Gene transfer by piggyBac transposition serves to provide an alternative approach for the transfection of nuclear donor cells used in SCNT.

  5. Feasibility of large-current capacity YBCO conductors with on-demand transposition

    NASA Astrophysics Data System (ADS)

    Yanagi, Nagato; Mito, Toshiyuki; Noguchi, Hiroki; Terazaki, Yoshiro; Tamura, Hitoshi; Iwakuma, Masataka; Aoki, Yuji; Izumi, Teruo; Shiohara, Yuh

    We propose a new idea for fabricating a large-current capacity YBCO conductor having a Roebel-type transposition formed by joining tapes. If the joule heating generated by joints is smaller than other heat sources, such as AC losses, this type of conductor may work as a quasi-superconductor. We note that the Roebel-type transposition can be included on demand in coil windings, not over the whole conductor length but rather locally, such as at terminals and coil edges to secure uniform current distribution among tapes. We fabricated a 1.2 m-long conductor sample based on this idea using 20 YBCO tapes. The Roebel-assembled tapes having joints with a 600-mm pitch length for meandering were imbedded in a copper jacket and soldered. The sample was tested in liquid nitrogen under the self magnetic field and the critical current was measured. The joint resistance was evaluated and compared with the expected value.

  6. Lateral femoral cutaneous nerve transposition: Renaissance of an old concept in the light of new anatomy.

    PubMed

    Hanna, Amgad S

    2017-04-01

    Meralgia paresthetica causes pain in the anterolateral thigh. Most surgical procedures involve nerve transection or decompression. We conducted a cadaveric study to determine the feasibility of lateral femoral cutaneous nerve (LFCN) transposition. In three cadavers, the LFCN was exposed in the thigh and retroperitoneum. The two layers of the LFCN canal superficial and deep to the nerve were opened. The nerve was then mobilized medially away from the ASIS, by cutting the septum medial to sartorius. It was possible to mobilize the nerve for 2 cm medial to the ASIS. The nerve acquired a much straighter course with less tension. A new technique of LFCN transposition is presented here as an anatomical feasibility study. The surgical technique is based on the new understanding of the LFCN canal. Clin. Anat. 30:409-412, 2017. © 2017 Wiley Periodicals, Inc.

  7. Hip transposition as a universal surgical procedure for periacetabular tumors of the pelvis.

    PubMed

    Gebert, Carsten; Gosheger, Georg; Winkelmann, Winfried

    2009-03-01

    Surgical treatment of pelvic tumors represents one of the most challenging problems in musculoskeletal oncology, especially in the periacetabular region. Because of the complex anatomy and demanding biomechanical situation, surgery leads to a considerable disability while all possible types of reconstruction are often associated with high complication rates. Nevertheless, it is known that wide resection of the tumor is one of the key points for long-term survival in sarcoma therapy. Therefore, hip transposition was established in our clinic as a universal tool for periacetabular tumors excelling in small foreign parts and resulting in acceptable complication rates with good functional outcome. The following article gives an overview of the technique and the indications of different types of hip transposition, which were developed from the first procedure, described and published by Winkelmann in 1988.

  8. Exposure of implants using a modified multiple-flap transposition vestibuloplasty.

    PubMed

    Hakim, S G; Driemel, O; Jacobsen, H C; Hermes, D; Sieg, P

    2006-12-01

    To introduce a minimally invasive operation to improve the condition of the soft tissues around the implants in an atrophied mandible, at the same time, as uncovering the implants. A multiple-flap transposition vestibuloplasty was done in 11 patients after the insertion of four implants in the interforaminal region of an atrophied mandible. Improvement in soft tissues and successful exposure of implants and attached gingiva were evaluated during a follow-up period of 55 months. All the patients were operated on local anaesthesia as outpatients. Adequate exposure of implants and an area of attached gingiva 4-9 mm wide were attained. There was no bleeding on probing or local infection. The transposition multiple-flap vestibuloplasty is a simple and minimally invasive method of improving the condition of soft tissue after insertion of implants. It does not limit the patients' routine activities and avoids staged operations.

  9. Alternative Ac/Ds transposition induces major chromosomal rearrangements in maize

    PubMed Central

    Zhang, Jianbo; Yu, Chuanhe; Pulletikurti, Vinay; Lamb, Jonathan; Danilova, Tatiana; Weber, David F.; Birchler, James; Peterson, Thomas

    2009-01-01

    Barbara McClintock reported that the Ac/Ds transposable element system can generate major chromosomal rearrangements (MCRs), but the underlying mechanism has not been determined. Here, we identified a series of chromosome rearrangements derived from maize lines containing pairs of closely linked Ac transposable element termini. Molecular and cytogenetic analyses showed that the MCRs in these lines comprised 17 reciprocal translocations and two large inversions. The breakpoints of all 19 MCRs are delineated by Ac termini and characteristic 8-base-pair target site duplications, indicating that the MCRs were generated by precise transposition reactions involving the Ac termini of two closely linked elements. This alternative transposition mechanism may have contributed to chromosome evolution and may also occur during V(D)J recombination resulting in oncogenic translocations. PMID:19299561

  10. DNA recognition and the precleavage state during single-stranded DNA transposition in D. radiodurans

    PubMed Central

    Hickman, Alison Burgess; James, Jeffrey A; Barabas, Orsolya; Pasternak, Cécile; Ton-Hoang, Bao; Chandler, Michael; Sommer, Suzanne; Dyda, Fred

    2010-01-01

    Bacterial insertion sequences (ISs) from the IS200/IS605 family encode the smallest known DNA transposases and mobilize through single-stranded DNA transposition. Transposition by one particular family member, ISDra2 from Deinococcus radiodurans, is dramatically stimulated upon massive γ irradiation. We have determined the crystal structures of four ISDra2 transposase/IS end complexes; combined with in vivo activity assays and fluorescence anisotropy binding measurements, these have revealed the molecular basis of strand discrimination and transposase action. The structures also show that previously established structural rules of target site recognition that allow different specific sequences to be targeted are only partially conserved among family members. Furthermore, we have captured a fully assembled active site including the scissile phosphate bound by a divalent metal ion cofactor (Cd2+) that supports DNA cleavage. Finally, the observed active site rearrangements when the transposase binds a metal ion in which it is inactive provide a clear rationale for metal ion specificity. PMID:20890269

  11. Rhinoplasty: congenital deficiencies of the alar cartilage.

    PubMed

    Kosins, Aaron M; Daniel, Rollin K; Sajjadian, Ali; Helms, Jill

    2013-08-01

    Congenital deficiencies of the alar cartilages are rare and often visible at birth but can occasionally present later. The authors review the anatomical development and discuss the incidence and treatment of congenital defects within the alar cartilages seen in rhinoplasty cases. The charts of 869 consecutive patients who underwent open rhinoplasty were retrospectively reviewed, and 8 cases of congenital defects of the alar cartilage within the middle crura were identified. Intraoperative photographs were taken of the alar deformities, and each patient underwent surgical correction. To simplify analysis, a classification of the defects was developed. A division was a cleft in the continuity of the alar cartilage with the 2 ends separate. A gap was a true absence of cartilage ranging from 1 to 4 mm, which can be accurately assessed in unilateral cases. A segmental loss was a defect greater than 4 mm. The 8 cases of deformity could be classified as 4 divisions, 3 gaps, and 1 segmental loss. None of the patients had a history of prior nasal trauma or nasal surgery. Six patients were women and 2 patients were men. In all cases, adequate projection and stability were achieved with a columellar strut. Asymmetry was minimized through concealer or tip grafts. There were no complications. Surgeons performing rhinoplasty surgery will encounter and should be prepared to deal with unexpected congenital defects of the alar cartilage. These defects within the middle crura will require stabilization with a columellar strut and, often, coverage with a concealer tip graft. We speculate that the cause of these defects is a disruption of the hedgehog signals that may arrest the condensation or block the differentiation of the underlying neural crest cells.

  12. Clinical features of congenital retinal folds.

    PubMed

    Nishina, Sachiko; Suzuki, Yumi; Yokoi, Tadashi; Kobayashi, Yuri; Noda, Eiichiro; Azuma, Noriyuki

    2012-01-01

    To investigate the clinical features and prognosis of congenital retinal folds without systemic associations. Retrospective observational case series. The characteristics, clinical course, ocular complications, and best-corrected visual acuity (BCVA) of eyes with congenital retinal folds were studied during the follow-up periods. The affected and fellow eyes were examined by slit-lamp biomicroscopy, binocular indirect ophthalmoscopy, and fundus fluorescein angiography. The parents and siblings of each patient also underwent ophthalmoscopic examinations. The BCVA was measured using a Landolt ring VA chart. One hundred forty-seven eyes of 121 patients with congenital retinal folds were examined. Fifty-five patients (45.5%) were female. The fold was unilateral in 95 patients (78.5%), and 69 of those patients (72.6%) had retinal abnormalities in the fellow eye. The meridional distribution of folds was temporal in 136 eyes (92.5%). The family history was positive in 32 patients (26.4%). Secondary fundus complications, including fibrovascular proliferation and tractional, rhegmatogenous, and exudative retinal detachments, developed in 44 eyes (29.9%). The BCVAs could be measured in 119 eyes and ranged from 20/100 to 20/20 in 5 eyes (4.2%), 2/100 to 20/200 in 45 eyes (37.8%), and 2/200 or worse in 69 eyes (58.0%). The follow-up periods ranged from 4 to 243 months (mean, 79.7 ± 58.9 months). These clinical features suggested that most congenital retinal folds may result from insufficient retinal vascular development, as in familial exudative vitreoretinopathy, rather than persistent fetal vasculature. Adequate management of active retinopathy and late-onset complications, especially retinal detachment, is required. Copyright © 2012 Elsevier Inc. All rights reserved.

  13. Radiology of congenital heart disease

    SciTech Connect

    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.

  14. [Congenital knee dislocation: case report].

    PubMed

    Arvinius, C; Luque, R; Díaz-Ceacero, C; Marco, F

    2016-01-01

    Congenital knee dislocation is an infrequent condition with unknown etiology. In some cases it occurs as an isolated condition, while in others it coexists with associated conditions or syndromes. The treatment of congenital knee dislocation is driven by the severity and flexibility of the deformity. The literature includes from serial casting or the Pavlik harness to quadriceps tendon plasty or femoral osteotomies. We report herein the case of a congenital dislocation treated with serial casting with a good outcome.

  15. Transposition of the yeast retroviruslike element Ty3 is dependent on the cell cycle.

    PubMed Central

    Menees, T M; Sandmeyer, S B

    1994-01-01

    Host cell cycle genes provide important functions to retroviruses and retroviruslike elements. To define some of these functions, the cell cycle dependence of transposition of the yeast retroviruslike element Ty3 was examined. Ty3 is unique among retroviruslike elements because of the specificity of its integration, which occurs upstream of genes transcribed by RNA polymerase III. A physical assay for Ty3 transposition which takes advantage of this position-specific integration was developed. The assay uses PCR to amplify a product of Ty3 integration into a target plasmid that carries a modified tRNA gene. By using the GAL1 upstream activating sequence to regulate expression of Ty3, transposition was detected within one generation of cell growth after Ty3 transcription was initiated. This physical assay was used to show that Ty3 did not transpose when yeast cells were arrested in G1 during treatment with the mating pheromone alpha-factor. The restriction of transposition was not due to changes in transcription of either Ty3 or tRNA genes or to aspects of the mating pheromone response unrelated to cell cycle arrest. The block of the Ty3 life cycle was reversed when cells were released from G1 arrest. Examination of Ty3 intermediates during G1 arrest indicated that Ty3 viruslike particles were present but that reverse transcription of the Ty3 genomic RNA into double-stranded DNA had not occurred. In G1, the Ty3 life cycle is blocked after particle assembly but before the completion of reverse transcription. Images PMID:7969160

  16. Prenatal exposure to oral contraceptives and transposition of the great vessels in man.

    PubMed

    Yasuda, M; Miller, J R

    1975-12-01

    The hypothesis that female sex hormones in the first trimester of pregnancy are causally related to transposition of the great vessels (TGV) was tested by a retrospective study of 135 cases of TGV ascertained through the British Columbia Health Surveillance Registry. During 1962-1972 there was no increase in the annual incidence rates of TGV. Analysis of questionnaires completed on 58 cases revealed no definite association between inadvertent use of oral contraceptives or other sex hormones during early pregnancy and TGV.

  17. Transfracture medial transposition of the radial nerve associated with plate fixation of the humerus.

    PubMed

    Chamseddine, Ali Hassan; Abdallah, Amer; Zein, Hadi; Taha, Assad

    2017-07-01

    The aim of this study was to illustrate safety, feasibility and advantages of transfracture medial transposition of the radial nerve during the lateral approach and lateral plating of humeral fractures located in the mid and distal shaft. This was a retrospective review and analysis of medical records and radiographs of 19 patients who underwent a transfracture medial transposition of the radial nerve. Fifteen patients were treated for fresh fracture and four for nonunion. All patients were followed up clinically and radiographically for a minimum of 12 months. Pre-operative radial nerve paralysis was present in four patients in the fresh fractures group; post-operative paralysis occurred in two. All patients completely recovered a few months after the index procedure. Except for two, all patients achieved bone healing. One patient from the fresh-fracture group developed nonunion, and one from the nonunion group experienced persistent nonunion; both underwent successful revision surgeries. In addition, four patients with a fresh fracture underwent revision surgery for hardware removal. All but two patients showed no restricted elbow or shoulder joint motion compared with the opposite side. Transfracture transposition of the radial nerve during open reduction and internal fixation of humeral shaft fractures is a safe, harmless and feasible procedure when applied for fractures of the middle and distal humeral shaft; it removes the nerve from the surgical field during fracture manipulation and fixation, with a gain in length of the nerve by transforming its course from spiral to straight. Following radial nerve transposition across the fracture, a repeat surgical approach to the humerus for hardware removal or treatment of nonunion transforms the procedure into a simple one; the skin incision is carried straight down to the bone without the need to identify or dissect the nerve that was previously transposed to the medial compartment of the arm.

  18. Lip commissure to eyelid transposition for repair of feline eyelid agenesis.

    PubMed

    Whittaker, C J G; Wilkie, David A; Simpson, D J; Deykin, A; Smith, J S; Robinson, C L

    2010-05-01

    Repair of eyelid agenesis in nine eyes of five cats using a lip commissure to eyelid transposition is described. The procedure is a modification of the technique described by Pavletic for reconstruction of the canine inferior eyelid and provides skin, mucosa, a mucocutaneous junction, and muscle to reconstruct the superior and inferior eyelid and lateral canthus. The technique was successful in all eyes and resulted in improvement in corneal protection, cosmesis and in several cats a return of the palpebral reflex.

  19. ISEcp1-mediated transposition of qnrB-like gene in Escherichia coli.

    PubMed

    Cattoir, Vincent; Nordmann, Patrice; Silva-Sanchez, Jesus; Espinal, Paula; Poirel, Laurent

    2008-08-01

    A novel QnrB-like plasmid-mediated resistance determinant, QnrB19, was identified from an Escherichia coli clinical isolate from Colombia. Its gene was associated with an ISEcp1-like insertion element that did not act as a promoter for its expression. Using an in vitro model of transposition, we showed that the ISEcp1-like element was able to mobilize the qnrB19 gene.

  20. ISEcp1-Mediated Transposition of qnrB-Like Gene in Escherichia coli▿

    PubMed Central

    Cattoir, Vincent; Nordmann, Patrice; Silva-Sanchez, Jesus; Espinal, Paula; Poirel, Laurent

    2008-01-01

    A novel QnrB-like plasmid-mediated resistance determinant, QnrB19, was identified from an Escherichia coli clinical isolate from Colombia. Its gene was associated with an ISEcp1-like insertion element that did not act as a promoter for its expression. Using an in vitro model of transposition, we showed that the ISEcp1-like element was able to mobilize the qnrB19 gene. PMID:18519717