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Sample records for congenital corrected transposition

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

    MedlinePlus

    ... Understanding Your Adult Congenital Heart Disease Quality of Life Birth Control Pregnancy and ... Corrected Transposition of the Great Arteries (CCTGA)* *Please note: This article is directed to those who have not undergone ...

  2. Congenitally corrected transposition and degenerative severe aortic stenosis.

    PubMed

    Faganello, Giorgio; Nelson, Martin; Stuart, Graham

    2008-10-01

    Congenitally corrected transposition is a rare cardiac anomaly characterized by the combination of discordant atrioventricular and ventriculoarterial connections. Young patients with this lesion can present with congestive cardiac failure, usually secondary to a large ventricular septal defect or pulmonary stenosis. We report here our experience with a lady aged 79, admitted to our unit because of deterioration of her congestive cardiac failure as a consequence of uncorrected congenitally corrected transposition associated with degenerative severe aortic stenosis. PMID:18752714

  3. Congenitally corrected transposition of the great arteries: surgical repair in adulthood.

    PubMed

    Mitropoulos, Fotios A; Kanakis, Meletios; Vlachos, Antonios P; Lathridou, Paraskevi; Tsaoussis, George; Georgiou, George; Goudevenos, John A

    2007-02-01

    We report a patient with congenitally corrected transposition of the great arteries, dextrocardia in congestive heart failure, with severe tricuspid regurgitation; a large ventricular septal defect, and giant left atrium. The patient underwent a two-ventricle repair with physiologic correction and had an excellent postoperative outcome. PMID:17258011

  4. Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries.

    PubMed

    Piacentini, Gerardo; Digilio, M Cristina; Capolino, Rossella; Zorzi, Andrea De; Toscano, Alessandra; Sarkozy, Anna; D'Agostino, Rita; Marasini, Maurizio; Russo, M Giovanna; Dallapiccola, Bruno; Marino, Bruno

    2005-08-30

    Familial recurrence of congenitally corrected transposition of the great arteries (CCTGA) is considered uncommon. Most of the previous familial studies involved a small number of patients and referred to all situs and looping anomalies including single ventricle, heterotaxia, and other cardiac defects different from CCTGA. We performed a large, consecutive clinical case series study in order to detect the recurrence of congenital heart defects in families of children with the classic form of CCTGA. From January 1997 through December 2004, 102 consecutive patients with CCTGA were evaluated in four institutions. There were 59 male (57.8%) and 43 female (42.2%). Mean age was 8.6 +/- 7.8 years. Eighty-eight patients (86.3%) had situs solitus of the atria, 14 (13.7%) situs inversus. The cardiac and extracardiac anomalies among relatives and the patterns of familial recurrence were investigated. Relatives with congenital heart defects were found in 16/102 families (15.7%). Transposition of the great arteries (TGA) was the most common recurrent defect (6/102 families). Consanguinity was identified in the parents of three probands. Six probands had an unaffected twin-sib. Recurrence risks for congenital heart defects were calculated at 5.2% (6/116) for siblings. In conclusion, CCTGA is not always sporadic in families. The pattern of inheritance, the presence of consanguinity among parents and the recurrence of situs inversus could suggest, in some families, an autosomal recessive mechanism with similarities with that occurring in some pedigrees with heterotaxia. The recurrence of TGA and CCTGA in the same family suggests a pathogenetic link between these two anatomically different malformations. PMID:16059940

  5. Dynamic outflow tract obstruction in congenitally corrected transposition of the great arteries.

    PubMed

    Zurick, Andrew O; Menon, Venu

    2010-08-01

    Congenitally corrected transposition of the great arteries (CCTGA) is a rare form of congenital heart disease, constituting 0.5% of all congenital heart defects. The incidence of left ventricle (non-systemic ventricle) outflow tract obstruction ranges between 44 and 57%. Herein, we present the case of a 45 year old woman with CCTGA with progressively worsening dyspnea who had been referred for surgical correction of severe systemic ventricle (morphologic right ventricle) atrio-ventricular valve (tricuspid valve) regurgitation. Cardiac magnetic resonance imaging (CMR) and transesophageal imaging (TEE) demonstrated severe systemic ventricle (morphologic right ventricle) contractile dysfunction, as well as dynamic non-systemic ventricle (morphologic left ventricle) outflow tract obstruction due to systolic anterior motion (SAM) of the non-systemic ventricle (morphologic left ventricle) atrio-ventricular valve (mitral valve) with a large membranous ventricular septal aneurysm that protrudes into the outflow tract of the non-systemic ventricle (morphologic left ventricle). Ultimately, our patient was felt to be too high-risk for surgical correction and a course of medical therapy has been pursued. PMID:20191324

  6. A 6-year follow-up study of adult patients with congenitally corrected transposition.

    PubMed

    Koželj, Mirta; Cvijić, Marta; Berden, Pavel; Podnar, Tomaž

    2015-10-01

    The aims of this study were to assess the development of heart failure in patients with congenitally corrected transposition of the great arteries in a medium-term follow-up, to identify the impact of tricuspid regurgitation on the development of heart failure, and to determine the most reliable marker for its identification. The prospective 6-year follow-up study included 19 adult patients. All patients were evaluated clinically by the determination of N-terminal pro-hormone brain natriuretic peptide levels, exercise stress testing, echocardiography magnetic resonance, or CT. Among them, two patients died of heart failure. There was a decline in exercise capacity and systolic systemic ventricular function (p=0.011). Systemic ventricular ejection fraction decreased (48.3±13.7 versus 42.7±12.7%, p=0.001). Tissue Doppler imaging showed a decline in peak tricuspid systolic annular velocity (10.3±2.0 versus 8.3±2.5 cm/second, p=0.032) and peak tricuspid early diastolic annular velocity (14.6±4.3 versus 12.0±4.5 cm/second, p=0.048). The tricuspid regurgitation did not increase significantly. N-terminal pro-hormone brain natriuretic peptide levels increased (127.0 ng/L(82.3-305.8) versus 226.0 ng/L(112.5-753.0), p=0.022). Progressive exercise intolerance in congenitally corrected transposition of the great arteries appears to be driven mainly by a progression in systemic right ventricular dysfunction. Tricuspid regurgitation is likely to play a role, especially in patients with structural abnormalities of the tricuspid valve - Ebstein anomaly. The N-terminal pro-hormone brain natriuretic peptide levels and tissue Doppler parameters appear sensitive in detecting changes over time and may guide management. PMID:25522750

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

    PubMed Central

    Altman, J. Ryan; Gantt, D. Scott

    2016-01-01

    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. PMID:27034557

  8. Sudden cardiac death in adults with congenitally corrected transposition of the great arteries

    PubMed Central

    McCombe, A; Touma, F; Jackson, D; Canniffe, C; Choudhary, P; Pressley, L; Tanous, D; Robinson, Peter J; Celermajer, D

    2016-01-01

    Background Congenitally corrected transposition of the great arteries (ccTGA) is a rare congenital heart disease. There have been only few reports of sudden cardiac death (SCD) in patients with ccTGA and reasonable ventricular function. Methods A retrospective review of the medical records of all patients attending our adult congenital heart centre, with known ccTGA. Results From a database of over 3500 adult patients with congenital heart disease, we identified 39 (∼1%) with ccTGA and ‘two-ventricle’ circulations. 65% were male. The mean age at diagnosis was 12.4±11.4 years and the mean age at last time of review was 34.3±11.3 years. 24 patients (56%) had a history of surgical intervention. 8 (19%) had had pacemaker implantation and 2 had had a defibrillator implanted for non-sustained ventricular tachycardia (NSVT). In 544 years of patient follow-up, there had been five cases of SCD in our population; 1 death per 109 patient-years. Two of these patients had had previously documented supraventricular or NSVT. However, they were all classified as New York Heart Association (NYHA) class I or II, and systemic (right) ventricular function had been recorded as normal, mildly or mildly–moderately impaired, at most recent follow-up. Conclusions Our experience suggests the need for improved risk stratification and/or surveillance for malignant arrhythmia in adults with ccTGA, even in those with reasonable functional class on ventricular function. PMID:27493760

  9. Perventricular closure of a large ventricular septal defect in congenitally corrected transposition of the great arteries.

    PubMed

    Aboulhosn, Jamil; Levi, Dan; Sopher, Michael; Johnson, Allen; Child, John S; Laks, Hillel

    2010-01-01

    We report the case of a 30 year-old male with congenitally corrected transposition of the great arteries, atrial, and ventricular septal defects (VSD), and pulmonary stenosis. He previously underwent three palliative surgical procedures before undergoing intracardiac repair at age 20 with a left ventricular to pulmonary artery (LV-PA) conduit, VSD closure, and replacement of the systemic atrioventricular valve. A residual VSD was noted postoperatively. He did well for approximately 10 years when he started becoming more breathless with daily activities and was noted to have a resting room air oxygen saturation of 85%. Despite increased diuretic therapy he continued to deteriorate and was ultimately admitted to the hospital in florid right and left heart failure with recurrent atrial fibrillation. Catheterization revealed pulmonary hypertension (pulmonary artery pressure = 80/17 mm Hg), moderate conduit stenosis, severe pulmonic regurgitation, and oxygen saturation of 75%. Calculated shunt fraction (Qp : Qs) was 1.3:1. He was referred for surgical intervention, specifically, LV-PA conduit replacement, oversewing of the pulmonic valve, VSD closure, and pacemaker placement. Intraoperatively, the VSD could not be closed despite multiple attempts through various approaches. Therefore, perventricular VSD closure using two Amplatzer septal occluders (AGA Medical, Golden Valley, MN) was performed in the operating room with the chest open off cardiopulmonary bypass. Following deployment, the residual shunt was small and the inferior vena cava-to-pulmonary artery saturation step-up was only 4%. The left ventricular systolic pressure decreased to one half systemic. This case highlights the utility and efficacy of a hybrid approach in the treatment of complex congenital heart disease. PMID:20136860

  10. Isolated congenitally corrected transposition of the great arteries with dextroversion discovered incidentally in a patient with cocaine-induced acute myocardial infarction

    PubMed Central

    Tandon, Anumeha; Bose, Rahul; Yoon, Anthony D.

    2016-01-01

    Complex cardiac congenital anomalies can occasionally be found in adult patients who have no knowledge of their condition. Here we present the case of a 27-year-old man with cocaine-induced acute myocardial infarction in whom an isolated congenitally corrected transposition of the great arteries with dextroversion was discovered incidentally. PMID:27034558

  11. 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.

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

    PubMed

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

    2016-02-01

    Patients with congenitally corrected transposition frequently benefit from re-synchronisation therapy or ablation procedures. This is likely to require catheterisation of the coronary sinus. Its anatomy, however, is not always appreciated, despite being well-described. With this caveat in mind, we have evaluated its location and structure in hearts with congenitally corrected transposition in order to reinforce the guidance needed by the cardiac interventionist. We dissected and inspected the coronary sinus, the oblique vein of the left atrium, and the left-sided-circumflex venous channel in eight heart specimens with corrected transposition and eight controls, measuring the orifice and length of the sinus and the atrioventricular valves. In two-thirds of the malformed hearts, the sinus deviated from its anticipated course in the atrioventricular groove, ascending obliquely on the left atrial inferior wall to meet the left oblique vein. The maximal deviation coincided in all hearts with the point where the left oblique vein joined the left-sided-circumflex vein to form the coronary sinus. We describe a circumflex vein, rather than the great cardiac vein, as the latter venous channel is right-sided in the setting of corrected transposition. The length of the sinus correlated positively with the diameter of the tricuspid valve (p=0.02). Compared with controls, the left oblique vein in the malformed hearts joined the circumflex venous channel significantly closer to the mouth of the sinus. The unexpected course of the coronary sinus in corrected transposition and the naming of the cardiac veins have important implications for venous cannulation and interpretation of images. PMID:25732933

  13. [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. PMID:27335197

  14. Bilateral superior rectus transposition for congenital exotropia associated with anomalous medial rectus muscles.

    PubMed

    Kodsi, Sylvia R

    2015-10-01

    Superior rectus transposition to the lateral rectus insertion without inferior rectus transposition has been used to correct esotropic deviations secondary to Duane syndrome and abducens nerve palsy. This is usually combined with an augmented posterior fixation suture of the superior rectus muscle to the lateral rectus muscle and ipsilateral medial rectus recession. We report a child with a large-angle congenital exotropia who was found to have anomalous medial rectus muscles bilaterally. Bilateral superior rectus transposition to the medial rectus insertion with bilateral lateral rectus recessions achieved good ocular alignment in primary position. PMID:26486030

  15. M-Plasty for Correction of Incomplete Penoscrotal Transposition

    PubMed Central

    Manjunath, KN; Venkatesh, MS

    2014-01-01

    Penoscrotal transposition (PST) is a rare anomaly of the external genitalia that can be complete or incomplete while incomplete type is more common. Various surgical methods are described for correction of incomplete PST. Modified Glenn Anderson’s method is commonly used. This method is known to cause major penile lymphoedema following surgery. Various modifications have been described to preserve the dorsal penile skin to reduce this lymphoedema. We present here our experience with M-Plasty, where the dorsal penile skin is cut in the form of V so that it breaks the constricting effect of circumferential incision and prevents lymphoedema. PMID:25489538

  16. Dextrocardia and corrected transposition of the great arteries (I,D,D) in a case of Kartagener's syndrome: a unique association.

    PubMed

    Bitar, F F; Shbaro, R; Mroueh, S; Yunis, K; Obeid, M

    1998-04-01

    Kartagener's syndrome (KS) usually includes mirror-image dextrocardia. The incidence of congenital heart disease in KS is comparable with that in the general population. This paper reports on a case of Kartagener's syndrome associated with dextrocardia, corrected transposition of the great arteries (I,D,D), ventricular septal defect, and valvar pulmonary stenosis in an 8-year-old girl. PMID:9562943

  17. [Use of non-fluoroscopic mapping in recurrent atrioventricular nodal reentrant tachycardia in a patient with corrected transposition of the great arteries].

    PubMed

    Aristizábal, Julián; Uribe, William; Duque, Mauricio; Marín, Jorge; Medina, Eduardo; Velásquez, Jorge; Femenía, Francisco; Baranchuk, Adrían

    2013-01-01

    The anatomy in congenital corrected transposition of the great arteries is complex and the conduction system may experience large degrees of variation. Invasive procedures should be done with the use of the highest possible technological sources to warrant success. We describe here, a patient with recurrent atrioventricular node reentry tachycardia where non-fluoroscopic navigation system helped in a complex ablation. PMID:23906743

  18. Anatomically corrected malposed great arteries misdiagnosed as transposition of great arteries: Diagnosis on fetal echocardiography

    PubMed Central

    Kumar, Vivek; Shah, Sejal

    2016-01-01

    We present a diagnosis of isolated anatomically corrected malposed great arteries on fetal echocardiography at 31 weeks of gestation period. The patient was referred to our institute with a diagnosis of suspected transposition of great arteries.

  19. Anatomically corrected malposed great arteries misdiagnosed as transposition of great arteries: Diagnosis on fetal echocardiography.

    PubMed

    Kumar, Vivek; Shah, Sejal

    2016-01-01

    We present a diagnosis of isolated anatomically corrected malposed great arteries on fetal echocardiography at 31 weeks of gestation period. The patient was referred to our institute with a diagnosis of suspected transposition of great arteries. PMID:27625528

  20. Modified Shumacker operation for correction of transposition of the great arteries.

    PubMed

    Alvarado, A

    1977-10-01

    Correction of the transposition of the great arteries can be accomplished with a modified Shumacker operation. This procedure has been demonstrated in cadavers to have many advantages over the techniques used by Mustard and by Angelini and Sandiford. At present these two operations provide the best clinical results in correction of transposition of the great arteries. The details of the modified Shumacker technique are described and the different advantages of this technique are discussed. PMID:904361

  1. Spontaneous resolution of plastic bronchitis in a patient post hemi-Mustard/bidirectional Glenn atrial switch procedure in the double-switch operation for congenitally corrected transposition of great arteries after course of Augmentin.

    PubMed

    Fararjeh, Mohammed; Najm, Hani; Tamimi, Omar

    2015-01-01

    We report the case of a five-year-old girl with plastic bronchitis after repaired complex congenital heart disease, who became asymptomatic after a short course of Augmentin. We report the disease regression as response either to antibiotic or as coincidental with spontaneous resolution. PMID:25544822

  2. Congenital heart defect - corrective surgery

    MedlinePlus

    ... born with one or more heart defects has congenital heart disease . Surgery is needed if the defect could harm ... 2008 Guidelines for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/ ...

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

    PubMed Central

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

    1970-01-01

    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. Images PMID:5440512

  4. Behaviour at eight years in children with surgically corrected transposition: The Boston Circulatory Arrest Trial.

    PubMed

    Bellinger, David C; Newburger, Jane W; Wypij, David; Kuban, Karl C K; duPlesssis, Adre J; Rappaport, Leonard A

    2009-02-01

    Uncertainty exists regarding the degree to which infants with congenitally malformed hearts are at risk of behavioural disorders in childhood. Data was collected as part of a randomized clinical trial involving 155 children with surgically corrected transposition (concordant atrioventricular and ventriculo-arterial connections or alignments). As infants, they underwent the arterial switch operation, involving deep hypothermia with predominantly total circulatory arrest or predominantly low-flow continuous cardiopulmonary bypass as the method of providing support to the vital organs. Parents completed the Child Behavior Checklist when the patients were aged 4 and 8 years, and the Connors' Parent Rating Scale at the age of 8 years. When the children were aged 8, teachers completed the Teacher's Report Form and the Connors' Teacher Rating Scale. In the cohort as a whole, the frequencies of behavioural problems identified by both parents and teachers were elevated, particularly on the scales for competence of the Child Behavior Checklist, and the Adaptive scales of the Teacher's Report Form. Approximately 1 in 5 patients had scores for Total Problem Behavior in the range of clinical concern on both the Child Behavior Checklist and the Teacher's Report Form. Few differences were found, however, according to the method of operative treatment. Postoperative seizures were associated with social and attention problems. Children experiencing academic problems at the age of 8 showed a larger increase in behavioural problems between the ages of 4 and 8 than did children making adequate academic progress. Children with congenitally malformed hearts who underwent reparative surgery in infancy using a strategy of severe haemodilution and alpha stat are at increased risk of behavioural problems in middle childhood. PMID:19079812

  5. Behaviour at eight years in children with surgically corrected transposition: The Boston Circulatory Arrest Trial*

    PubMed Central

    Bellinger, David C.; Newburger, Jane W.; Wypij, David; Kuban, Karl C. K.; duPlesssis, Adre J.; Rappaport, Leonard A.

    2016-01-01

    Uncertainty exists regarding the degree to which infants with congenitally malformed hearts are at risk of behavioural disorders in childhood. Data was collected as part of a randomized clinical trial involving 155 children with surgically corrected transposition (concordant atrioventricular and ventriculo-arterial connections or alignments). As infants, they underwent the arterial switch operation, involving deep hypothermia with predominantly total circulatory arrest or predominantly low-flow continuous cardiopulmonary bypass as the method of providing support to the vital organs. Parents completed the Child Behavior Checklist when the patients were aged 4 and 8 years, and the Connors’ Parent Rating Scale at the age of 8 years. When the children were aged 8, teachers completed the Teacher’s Report Form and the Connors’ Teacher Rating Scale. In the cohort as a whole, the frequencies of behavioural problems identified by both parents and teachers were elevated, particularly on the scales for competence of the Child Behavior Checklist, and the Adaptive scales of the Teacher’s Report Form. Approximately 1 in 5 patients had scores for Total Problem Behavior in the range of clinical concern on both the Child Behavior Checklist and the Teacher’s Report Form. Few differences were found, however, according to the method of operative treatment. Postoperative seizures were associated with social and attention problems. Children experiencing academic problems at the age of 8 showed a larger increase in behavioural problems between the ages of 4 and 8 than did children making adequate academic progress. Children with congenitally malformed hearts who underwent reparative surgery in infancy using a strategy of severe haemodilution and alpha stat are at increased risk of behavioural problems in middle childhood. PMID:19079812

  6. Transposition of the great vessels

    MedlinePlus

    ... Congenital heart defect - transposition; Cyanotic heart disease - transposition; Birth defect - transposition ... up oxygen in the lungs. Symptoms appear at birth or very soon ... (such as atrial septal defect, ventricular septal defect, ...

  7. Surgical correction of congenital megaprepuce.

    PubMed

    Shenoy, M U; Rance, C H

    1999-01-01

    Congenital megaprepuce (CMP) is a rare entity. Two infant boys presented with a tight congenital phimosis resulting in an excessively baggy, urine-filled prepuce and a swollen scrotum. Compression of the scrotum resulted in drainage of urine. We feel this to be a separate entity from a buried penis and recommend early surgery. The phimotic tip of the foreskin was excised and the inner layer preserved to cover the full length of the penile shaft. The outer layer of the foreskin, in reality the penoscrotal junction, was anchored to the base of the penile shaft. A V-shaped edge of ventral skin was excised and the edges approximated, giving the appearance of median raphe. The final appearance was that of a circumcised penis. A third patient awaits operation. PMID:10631746

  8. 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

  9. 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. ...

  10. Horizontal muscle transposition or oblique muscle weakening for the correction of V pattern?

    PubMed Central

    Sekeroglu, H T; Turan, K E; Uzun, S; Sener, E C; Sanac, A S

    2014-01-01

    Purpose To report and to analyze the efficacy of horizontal rectus muscle transposition and inferior oblique muscle weakening in terms of pattern correction for patients with V pattern. Methods The review of the medical files identified 55 patients who had esotropia (ET) or exotropia (XT) with V pattern. The primary outcome measure was the amount of V pattern collapse (Δ). Results Of the 55 patients (mean age 22.1±9.5 years), 27 (49.1%) were males and 28 (50.9%) were females. The type of deviations was XT in 30 patients (54.5%) and ET in 25 patients (45.5%). Inferior oblique muscle weakening was performed in 43 (78.2%) patients, whereas horizontal muscle transposition was carried out in 12 (21.8%) patients in addition to recession-resection procedures. The amount of pattern was significantly reduced in both groups (P=0.01 for the horizontal offset group and P<0.01 for the oblique muscle weakening group). Conclusion Oblique muscle weakening surgery and horizontal muscle offset are effective in the correction of V pattern when the amount of pattern is under 30Δ. PMID:24525866

  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. HeartWare Ventricular Assist Device Placement in a Patient With Corrected Dextro-Transposition of Great Arteries: A Case Report and Its Clinical Challenges.

    PubMed

    Sehgal, Sankalp; Ramachandran, Sujatha; Leff, Jonathan D

    2015-09-01

    Given the improved survival in patients with corrected dextro-transposition of great arteries (D-TGA), it has evolved into an adult congenital heart defect. It is important to understand the management and complications observed in this population that eventually progresses to systemic ventricular failure requiring cardiac transplantation. Our case focuses on the rapid right ventricle (RV) deterioration of a patient with corrected D-TGA following a surgical procedure requiring systemic support. With such patients awaiting heart transplantation, there are limited assist devices available for RV support and no right ventricular assist device is approved for destination therapy yet. Current indications for implantation of the HeartWare ventricular assist device (HVAD) are limited by the Food and Drug Administration (FDA) to the left ventricle support as a bridge to transplantation. However, its use in the United States for right-sided support has rarely been described for adult congenital defects. In this case, a HeartWare assist device was used to provide systemic support as a bridge to cardiac transplant. The size and implantation design of the HVAD makes it a promising option for patients with this challenging patient population and RV failure as a late complication. PMID:25601596

  13. A NEW APPROACH TO CORRECTION OF D-LOOP TRANSPOSITION OF THE GREAT ARTERIES

    PubMed Central

    Subramanian, V. A.; Herman, S. A.; Gay, William A.

    1977-01-01

    An operative procedure is described for repair of transposition of the great arteries in which the left ventricle is the “aortic” ventricle and the right ventricle is the “pulmonic” ventricle. The technical feasibility of this procedure is supported by its successful application in experimental animals. A modified procedure, which may be applicable in certain complex forms of transposition of the great arteries and other perplexing anomalies for which there are no known repairs, is discussed. Images PMID:15216116

  14. 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. PMID:26937115

  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. Aneurysm of the Membranous Septum Causing Outflow Obstruction of the Venous Ventricle in Corrected Transposition of the Great Arteries

    PubMed Central

    Gunawan, Antonius; Krajcer, Zvonimir; Leachman, Robert D.

    1982-01-01

    A 58 year-old man with clinical and hemodynamic evidence of subpulmonic stenosis was admitted to our hospital. Angiography revealed corrected transposition of the great arteries and an aneurysm of membranous ventricular septum (AVS) that protruded into the venous outflow tract, causing severe subpulmonic obstruction during systole. The diagnosis was confirmed at surgery, and successful repair of the aneurysm was performed. This was an unusual case because the AVS caused such severe obstruction that the venous ventricular pressure was elevated to a value equal to the systemic level. Images PMID:15226819

  17. Transposition of the great vessels

    MedlinePlus

    Transposition of the great vessels is a heart defect that occurs from birth (congenital). The two major vessels that carry blood ... nutrition) Rubella or other viral illness during pregnancy ... the great vessels is a cyanotic heart defect. This means there ...

  18. Simple Correction of the Congenital Cleft Earlobe.

    PubMed

    Karaci, Selman; Köse, Rüştü

    2016-07-01

    The appearance of the ear is an important component of the facial characteristics. Lower auricular malformations are less frequent than total or upper auricular malformations. The patients are affected unilaterally in general. Cleft earlobe is frequently encountered among earlobe anomalies. The presented case may be classified as longitudinal type according to Kitayama (Jpn J Plast Reconstr Surg 11:663-670, 1980). Many of the correction methods may lead to patient discomfort due to possible conspicuous scar. The patient was a 5 year old girl. In the presented case, a simple method has been performed. Satisfactory outcome is achieved. As a simple method applying longitudinal division and rotation procedure does not have marginal excision. Furthermore there is no additional incision outside the cleft margin. Local flap and graft are not applied. Conservative approach was maintained with respect to scar occurrence. This method is not favourable in the case of acquired split earlobe deformities due to the wide cleft surface. Postoperative 3rd-month appearance demonstrated adequate correction. PMID:27408464

  19. [Congenital penile deviation: an integral diagnostic approach to correction].

    PubMed

    Koroleva, S V; Kovalev, V A; Burov, V N; Danovich, V M; Leshcheva, N V; Orlova, E V

    2005-01-01

    A comparative analysis of diagnostic examination of 130 men with isolated congenital erectile penile deviation (EPD) aged 14-22 years (mean age 17 years) has demonstrated that true EPD can be determined objectively only at adequate erection. Therefore, the diagnosis should be based not on subjective opinion of the patient but on the results of artificial pharmacological erection or viagra-test in combination with visual erotic and genital stimulation. Vacuum erection test is not justified. In patients with congenital EPD rigidity depends much on correlation between perfusion volume and functional volume of the penis (cavernous volume). The problem of congenital EPD can be formulated as the problem of "long penis". Measurements of the penis in the group of 54 patients with congenital EPD registered a low penile coefficient in 67% cases while a mean length of the penis in all the examinees was longer than a mean standard one and was about 13 cm in relaxed condition. EPD patients often suffer from asthenodepressive disorders deteriorating the copulative function. Psychotherapy and medication of the depressive syndrome result in stabilization of the psychological condition improving quality of life 1.3 times. Thus, an integrative diagnostic and therapeutic approach, due selection of the patients for operative correction of penile deviation can improve quality of the treatment aimed both at correction of erectile malformation and psychosexual adaptation of the patients. PMID:16281840

  20. [Development of a technique for the complete correction of transposition of great vessels].

    PubMed

    Binet, J P; Planche, C

    1992-01-01

    Complete transposition of the great arteries is one of the most common cardiovascular anomalies. Several surgical methods of treatment have been proposed. Arterial repair theoretically seems a better option since it does not introduce any additional intra cardiac anomaly and it restores the left ventricle to its natival systemic function. The rationale for neonatal arterial repair lies on fetal and neonatal cardiopulmonary physiology. The left ventricle has to eject immediately after surgery a normal cardiac output at systemic pressure in the aorta. This is the case in the neonatal period, because during fetal life pulmonary artery and aortic pressure are equal. For simple TGA, after birth, with the fall in pulmonary vascular resistances and constriction of the ductus arteriosus, pulmonary artery and left ventricular pressures drop dramatically to less than one third (1/3) of systemic pressure. As a result, the left ventricle is not stimulated for growth adaptation and becomes a thin ventricle less contractile and more compliant. However, there is little doubt that during the first 2 to 4 post-natal weeks, the left ventricle is still suitable to sustain a systemic workload. Between april 1984 and april 1992, four hundred and twenty six (426) consecutive neonates underwent an arterial switch operation for various forms of transposition: with 34 hospital deaths. The mean age at operation was 13 days and the mean weight was 3.2 kg. Among patients with TGA-VSD and coarctation, 14 underwent a single stage repair through mid sternotomy. Actuarial survival rates were: 89% for TGA-IVS at 5 years, 90% for TGA-VSD, 85.3% for TGA-VSD and coarctation at 3 years.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:1301228

  1. 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. PMID:26702687

  2. [Intensive care for newborns and infants after anatomic correction of transposition of great vessels].

    PubMed

    Manerova, A F; Lobacheva, G V; Khar'kin, A V; Bokeriia, L A

    2006-01-01

    A retrospective study was made in 48 babies undergone an arterial switching operation at the Bakulev Research Center of Cardiovascular Surgery in January 2004 to September 2005. Their age at surgery was 5 days to 11 months; body weight, 3.9 +/- 1.1 kg (2.4-8.7 kg). According to the course of a postoperative period, the patients were divided into 2 groups: 1) 28 (58.3%) neonates with simple transposition of great vessels (TGV) and older babies (above 3 weeks of life) with simple TGV; 2) 20 (41.6%) patients with TGV + ventricular septal defect. The postoperative management of all the patients was based on the delayed bringing the sternum together in babies at risk for close mediastinum syndrome, on the reduction in left and right ventricular afterload with the mean blood pressure (BPmean) minimally sufficient to maintain adequate coronary blood flow and diuresis, by using inodilatators and nitric oxide (II) and by limiting the volume of administered fluid. The sternum was primarily brought together in 20 (41.6%) patients, in 13 (27.1%) on day 2. Sternal separation was required in 1 patient from Group 1 on postoperative day 2. The duration of artificial ventilation was 3.3 +/- 5.2 days (0.7-15 days); the length of stay in an intensive care unit was 4.8 +/- 8.2 days (1-20 days). There were 9 (18.7%) deaths. Left ventricular failure, high pulmonary hypertension, and coronary insufficiency were causes of death in 2 (4.8%), 1 (2.4%), and 2 (4.8%) patients, respectively. After arterial switching, the optimum management of patients with low cardiac output is to maintain low peripheral resistance and to restrict preload and to use FDE III inhibitors as the drugs of choice. PMID:16889214

  3. Correcting Congenital Talipes Equinovarus in Children Using Three Different Corrective Methods: A Consort Study.

    PubMed

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

    2015-07-01

    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

  4. 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

  5. Congenital Hallux Varus with Polydactyly and Syndactyly-Correction in an Adult - A Case Report

    PubMed Central

    Patil, Sampat Dumbre; Parekh, Hemant; Patil, Vaishali Dumbre; Joshi, Kartikeya

    2014-01-01

    Introduction: Congenital hallux varus of secondary type is associated with polydactyly, syndactyly or other congenital deformities of the foot. Such congenital deformities can be addressed in childhood with soft tissue reconstructive procedures. In adulthood, treatment of these deformities is challenging because of soft tissue contractures and rigid bony deformities. To our knowledge, this is the first case report demonstrating the management of neglected secondary congenital hallux varus in adults. Case Report: We present here a case of a 23 years old male patient who presented to us with untreated congenital hallux varus of secondary type. Patient had an extra great toe (polydactyly) with syndactyly. We have treated this patient in two stages. First stage consisted of excision of the extra great toe and gradual correction of medial great toe. In second stage, metatarsophalangeal joint fusion was done. We have follow up of this case for more than 2.5 years. Conclusion: Severe neglected congenital deformities presenting in adulthood pose unique problems of soft tissue contractures and permanent bony deformities. Congenital neglected hallux varus with polydactyly and syndactyly is a rare deformity. Its correction was challenging as patient presented to us in adulthood. A staged approach of gradual soft tissue distraction and then metatarsophalangeal joint fusion has resulted in satisfactory aesthetic and functional outcome. PMID:27298963

  6. 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. PMID:21894815

  7. CONGENITAL ABSENCE OF THE VAGINA—Surgical Correction

    PubMed Central

    Gaster, Joseph

    1955-01-01

    In the two cases of congenital absence of the vagina reported herein, the embryologic point of arrest of development of the mullerian ducts was identical. Both patients had a rudimentary uterus, and one had a fibroid tumor on the rudimentary uterus. As a part of operation to construct a vagina in such cases, exploratory pelvic laparotomy appears to be a desirable step in order to determine the status of the internal genital organs. The use of a split thickness skin graft sewn around a vaginal mold and inserted into the dissected vaginal space results in more rapid healing, less scar tissue and a vagina that is soft, pliable and normal in appearance, even to the extent of having rugal folds. ImagesFigure 2.Figure 4.Figure 5.Figure 6. PMID:13230915

  8. [The "candlestick" technique for the correction of certain types of congenital metacarpal synotosis].

    PubMed

    Foucher, G; Medina, J; Bollecker, V; Lorea, P

    2002-10-01

    Metacarpal synostosis is a rare congenital hand malformation requiring only occasionally a surgical correction. However in case of divergent epiphyses there is a progressive accentuation of the deformity. In the "Y" type of symmetrical synostosis, the authors propose a trapezoidal osteotomy with upside down relocation allowing realignement of the epiphyses without distant bone donor site. PMID:12491705

  9. Cardiovascular response to physical exercise in adult patients after atrial correction for transposition of the great arteries assessed with magnetic resonance imaging

    PubMed Central

    Roest, A A W; Lamb, H J; van der Wall, E E; Vliegen, H W; van den Aardweg, J G; Kunz, P; de Roos, A; Helbing, W A

    2004-01-01

    Objective: To assess with magnetic resonance imaging (MRI) cardiovascular function in response to exercise in patients after atrial correction of transposition of the great arteries (TGA). Methods: Cardiac function at rest and during submaximal exercise was assessed with MRI in 27 patients with TGA (mean (SD) age 26 (5) years) late (23 (2) years) after atrial correction and in 14 control participants (25 (5) years old). Results: At rest, only right ventricular ejection fraction was significantly lower in patients than in controls (56 (7)% v 65 (7)%, p < 0.05). In response to exercise, increases in right ventricular end diastolic (155 (55) ml to 163 (57) ml, p < 0.05) and right ventricular end systolic volumes (70 (34) ml to 75 (36) ml, p < 0.05) were observed in patients. Furthermore, right and left ventricular stroke volumes and ejection fraction did not increase significantly in patients. Changes in right ventricular ejection fraction with exercise correlated with diminished exercise capacity (r  =  0.43, p < 0.05). Conclusions: In patients with atrially corrected TGA, MRI showed an abnormal response to exercise of both systemic right and left ventricles. Exercise MRI provides a tool for close monitoring of cardiovascular function in these patients, who are at risk for late death. PMID:15145879

  10. Transposition of the great arteries.

    PubMed

    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

  11. 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. PMID:24817090

  12. 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

  13. 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. PMID:19626347

  14. 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.…

  15. [Transposition of great vessels in Cantrell syndrome].

    PubMed

    Czarnecki, L; Mikołajczak-Mejer, U; Zinka, E

    1993-04-01

    A case is presented of complete transposition of great vessels with atrial and ventricular septum defect and coarctation of the pulmonary artery in Cantrell syndrome. The Cantrell syndrome consists of: congenital heart disease, defect of pericardium, diaphragm, sternum, and anterior abdomen wall. In all cases of Cantrell syndrome described as yet ventricular septum defect was present alone or in combination with other intracardiac defects. The presented case is the first report of congenital abnormality in the from of d-TGA in Cantrell syndrome. PMID:8249420

  16. Mechanical circulatory support in patients with heart failure secondary to transposition of the great arteries.

    PubMed

    Joyce, David L; Crow, Sheri S; John, Ranjit; St Louis, James D; Braunlin, Elizabeth A; Pyles, Lee A; Kofflin, Paula; Joyce, Lyle D

    2010-11-01

    Advances in palliation of congenital heart disease have resulted in improved survival to adulthood. Many of these patients ultimately develop end-stage heart failure requiring left ventricular assist device implantation (LVAD). However, morphologic differences in the systemic ventricle of these patients require careful attention to cannula placement. We report on the evolution of our surgical technique for implanting LVADs in 3 patients with transposition of the great arteries and congenitally corrected transposition of the great arteries. Applying standard LV cannulation techniques to the systemic ventricle led us too anteriorly in our first patient, creating obstruction by the moderator band. Subsequent use of epicardial and transesophageal echocardiography allowed for intraoperative localization of the intracardiac muscular structures to identify the optimal cannulation site. The acute angle of the inflow cannula on the DeBakey LVAD (MicroMed Technology, Houston, TX) required flipping the device 180°. The HeartMate II device (Thoratec, Pleasanton, CA) could be shifted towards the midline. One patient underwent successful transplant and 2 are home waiting for a donor organ. We conclude from our experience that LVAD surgery can be safely performed in patients with congenital heart disease when implanted under echocardiographic guidance. PMID:20620085

  17. 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

  18. Transposition of Great Arteries: New Insights into the Pathogenesis

    PubMed Central

    Unolt, Marta; Putotto, Carolina; Silvestri, Lucia M.; Marino, Dario; Scarabotti, Alessia; Valerio Massaccesi; Caiaro, Angela; Versacci, Paolo; Marino, Bruno

    2013-01-01

    Transposition of great arteries (TGA) is one of the most common and severe congenital heart diseases (CHD). It is also one of the most mysterious CHD because it has no precedent in phylogenetic and ontogenetic development, it does not represent an alternative physiological model of blood circulation and its etiology and morphogenesis are still largely unknown. However, recent epidemiologic, experimental, and genetic data suggest new insights into the pathogenesis. TGA is very rarely associated with the most frequent genetic syndromes, such as Turner, Noonan, Williams or Marfan syndromes, and in Down syndrome, it is virtually absent. The only genetic syndrome with a strong relation with TGA is Heterotaxy. In lateralization defects TGA is frequently associated with asplenia syndrome. Moreover, TGA is rather frequent in cases of isolated dextrocardia with situs solitus, showing link with defect of visceral situs. Nowadays, the most reliable method to induce TGA consists in treating pregnant mice with retinoic acid or with retinoic acid inhibitors. Following such treatment not only cases of TGA with d-ventricular loop have been registered, but also some cases of congenitally corrected transposition of great arteries (CCTGA). In another experiment, the embryos of mice treated with retinoic acid in day 6.5 presented Heterotaxy, suggesting a relationship among these morphologically different CHD. In humans, some families, beside TGA cases, present first-degree relatives with CCTGA. This data suggest that monogenic inheritance with a variable phenotypic expression could explain the familial aggregation of TGA and CCTGA. In some of these families we previously found multiple mutations in laterality genes including Nodal and ZIC3, confirming a pathogenetic relation between TGA and Heterotaxy. These overall data suggest to include TGA in the pathogenetic group of laterality defects instead of conotruncal abnormalities due to ectomesenchymal tissue migration. PMID:24400257

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

    PubMed Central

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

    2014-01-01

    OBJECTIVE: To evaluate the association of clinical and demographic variables in patients requiring blood transfusion during elective surgery to treat scoliosis with the aim of identifying markers predictive of the need for blood transfusion. METHODS: Based on the review of medical charts at a public university hospital, this retrospective study evaluated whether the following variables were associated with the need for red blood cell transfusion (measured by the number of packs used) during scoliosis surgery: scoliotic angle, extent of arthrodesis (number of fused levels), sex of the patient, surgery duration and type of scoliosis (neuromuscular, congenital or idiopathic). RESULTS: Of the 94 patients evaluated in a 55-month period, none required a massive blood transfusion (most patients needed less than two red blood cell packs). The number of packs was not significantly associated with sex or type of scoliosis. The extent of arthrodesis (r = 0.103), surgery duration (r = 0.144) and scoliotic angle (r = 0.004) were weakly correlated with the need for blood transfusion. Linear regression analysis showed an association between the number of spine levels submitted to arthrodesis and the volume of blood used in transfusions (p = 0.001). CONCLUSION: This study did not reveal any evidence of a significant association between the need for red blood cell transfusion and scoliotic angle, sex or surgery duration in scoliosis correction surgery. Submission of more spinal levels to arthrodesis was associated with the use of a greater number of blood packs. PMID:25518018

  20. Congenital Heart Defects in Adults : A Field Guide for Cardiologists

    PubMed Central

    Romfh, Anitra; Pluchinotta, Francesca Romana; Porayette, Prashob; Valente, Anne Marie; Sanders, Stephen P.

    2013-01-01

    Advances in cardiology and cardiac surgery allow a large proportion of patients with congenital heart defects to survive into adulthood. These patients frequently develop complications characteristic of the defect or its treatment. Consequently, adult cardiologists participating in the care of these patients need a working knowledge of the more common defects. Occasionally, patients with congenital heart defects such as atrial septal defect, Ebstein anomaly or physiologically corrected transposition of the great arteries present for the first time in adulthood. More often patients previously treated in pediatric cardiology centers have transitioned to adult congenital heart disease centers for ongoing care. Some of the more important defects in this category are tetralogy of Fallot, transposition of the great arteries, functionally single ventricle defects, and coarctation. Through this field guide, we provide an overview of the anatomy of selected defects commonly seen in an adult congenital practice using pathology specimens and clinical imaging studies. In addition, we describe the physiology, clinical presentation to the adult cardiologist, possible complications, treatment options, and outcomes. PMID:24294540

  1. 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. PMID:26104705

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

    PubMed Central

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

    2016-01-01

    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. PMID:27212986

  3. 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. PMID:27212986

  4. 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

  5. [Operative technique: The clitoral transposition].

    PubMed

    Chevrot, A; Lousquy, R; Arfi, A; Haddad, B; Paniel, B J; Touboul, C

    2015-10-01

    Female sexual mutilations result in an important physical and mental suffering. A large number of women have been affected and require a global management, including surgical clitoral transposition. This surgical technique is allowing a rapid improvement of clinical symptoms. In this article, we will describe the indications and operative technique of the clitoral transposition. PMID:25818112

  6. Robotically Assisted Endoscopic Ovarian Transposition

    PubMed Central

    Wedergren, June S.; Carlson, Mark A.

    2003-01-01

    Background: 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. Methods: 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. Results: 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. Conclusions: Robotically assisted endoscopy was successfully used for ovarian transposition. PMID:12723000

  7. 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

  8. 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

  9. Bronchial compression due to stent placement in pulmonary artery in a child with congenital heart disease.

    PubMed

    Núñez, Mónica; Beleña, José; Cabeza, Raúl; Beltrán, María

    2005-12-01

    Congenital heart disease, such as transposition of the great vessels (TGV), requires surgical procedures which can lead to important complications. We report on a case of bronchial obstruction following placement of a pulmonary artery stent in a 4-year-old boy who had undergone a Rastelli procedure to correct TGV, ventricular septal defect and pulmonary stenosis. There are many complications that can arise as a consequence of intravascular stents in heart surgery, as well as many causes of bronchial compression. However we have not found any report which describes bronchial compression as a direct consequence of endovascular stent. PMID:16324040

  10. Complete penoscrotal transposition: A three-stage procedure

    PubMed Central

    Somoza, Ivan; Palacios, Maria G.; Mendez, Roberto; Vela, Diego

    2012-01-01

    Complete penoscrotal transposition (CPST) with an intact scrotum is a rare anomaly in which the scrotum is located cephalic to the penis. It is the most severe degree of malformation of a spectrum of abnormalities in scrotal development. There are few cases reported in the literature, and there are few descriptions of the technique for correction and results. We describe a new case of CPST and its sequential correction. PMID:23450271

  11. 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.

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

    PubMed Central

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

    2010-01-01

    With advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. 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. PMID:20352139

  13. 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.

  14. Surgical treatment for congenital kyphosis correction using both spinal navigation and a 3-dimensional model.

    PubMed

    Sugimoto, Yoshihisa; Tanaka, Masato; Nakahara, Ryuichi; Misawa, Haruo; Kunisada, Toshiyuki; Ozaki, Toshifumi

    2012-01-01

    An 11 year-old girl had 66 degrees of kyphosis in the thoracolumbar junction. For the purpose of planning for kyphosis correction, we created a 3-D, full-scale model of the spine and consulted spinal navigation. Three-dimensional models are generally used as tactile guides to verify the surgical approach and portray the anatomic relations specific to a given patient. We performed posterior fusion from Th10 to L3, and vertebral column resection of Th12 and L1. Screw entry points, directions, lengths and diameters were determined by reference to navigation. Both tools were useful in the bone resection. We could easily detect the posterior element to be resected using the 3D model. During the anterior bony resection, navigation helped us to check the disc level and anterior wall of the vertebrae, which were otherwise difficult to detect due to their depth in the surgical field. Thus, the combination of navigation and 3D models helped us to safely perform surgery for a patient with complex spinal deformity. PMID:23254585

  15. Canine transposition in prehistoric Pakistan: Bronze Age and Iron Age case reports.

    PubMed

    Lukacs, J R

    1998-10-01

    This report documents two prehistoric cases of canine-first premolar transposition (Mx.C.P1) from the Indo-Pakistan subcontinent. Recent discussion of the etiology of canine transposition and reports of high prevalence for the condition in modern India accentuate the significance of the ancient cases reported there. Case 1 is from the Iron Age site of Sarai Khola in northern Pakistan (1000 BC). The specimen, an adult female, 25 to 30 years of age at death, exhibits unilateral Mx.C.P1 transposition on the left side. The condition is associated with a barrel-shaped maxillary left third molar in an otherwise normal and healthy maxillary dental arch. Case 2 is from the Bronze Age urban site of Harappa (2500 BC), an important center of the Indus Valley Civilization. In this specimen, an adult female, transposition is bilateral, resulting in displacement of premolars and large diastemata between the maxillary lateral incisors and first premolars. Bilateral agenesis of maxillary third molars and rotation of maxillary and mandibular teeth occur with transposition in this specimen. In neither case are the lateral incisors reduced in size, peg-shaped, or congenitally absent. This report of Mx.C.P1 transposition in prehistoric times is significant because it provides historical documentation for the female predilection of the trait and establishes its co-occurrence with specific dental variants, such as agenesis, reduction, and rotation of teeth. PMID:9770107

  16. 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

  17. Residual deformity in congenital radial club hands after previous centralisation of the wrist. Ulnar lengthening and correction by the Ilizarov method.

    PubMed

    Kawabata, H; Shibata, T; Masatomi, T; Yasui, N

    1998-09-01

    We used the Ilizarov method in seven patients with severe congenital radial club hands who had had previous wrist surgery, to correct residual shortening and bowing of the ulna together with recurrent wrist deformity. The mean age at operation was 6.5 years. The mean ulnar shortening was 5.3 cm and the mean angular deformity 42 degrees. The mean length gained was 51% of the original ulna. The mean healing index was 46.9 days (29.8 to 64.0). The ratio of the length of the lengthened ulna to the normal side improved on average from 64% to 95%. The angular deformity was initially completely corrected in six out of seven patients. The length ratio, however, decreased to 83% at the final follow-up. In four patients, the angular deformity partially recurred. We recommend correction of congenital radial club hand by staged procedures. The first is centralisation and stabilisation of the wrist and the second lengthening of the ulna and correction of the angular deformity using the Ilizarov method. PMID:9768881

  18. 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.

  19. Modified Shumacker repair of transposition of the great arteries.

    PubMed

    Waldhausen, J A; Pierce, W S; Berman, W; Whitman, V

    1979-08-01

    Seven infants weighing from 6.4 to 10.3 kg underwent correction of transposition of the great arteries by the venous transposition operation as described by Shumacker. In this operation, a new atrial septum is constructed using a bipedicled right atrial flap, and the lateral atrial wall is constructed using a viable pericardial flap. Three of the patients had an associated ventricular septal defect. Six of the seven patients survived and have had an excellent clinical result. Although atrial arrhythmias were common in the early postoperative period, all patients are now in sinus rhythm. Two patients have had postoperative cardiac catheterization and cineangiography, which showed excellent hemodynamic results. The modified Shumacker operation preserves two of the three internodal pathways, provides a compliant, viable atrial septum, and permits fabrication of a generous-size physiological left atrium. This appears to offer advantages not present in the Mustard procedure. PMID:445766

  20. 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…

  1. Complete transposition of the aorta and pulmonary artery in a Belgian Blue crossbreed calf: A case report

    PubMed Central

    2011-01-01

    Background Complete transposition of the great arteries is a congenital cardiac malformation occasionally encountered in cattle and other species. The objective of the present report was to provide a detailed clinical, echocardiographic and post mortem description of a calf presenting with this condition. Case presentation A 6-week old male Belgian Blue cross-breed calf was examined for respiratory distress and exercise intolerance. The patient was bright, alert and responsive without any neurologic abnormalities but was exercise intolerant, had marked cyanosis, tachycardia, tachypnea, a pansystolic heart murmur as well as a bilaterally palpable thrill over the heart. Arterial blood gas analysis revealed marked hypoxemia (PaO2 = 23 mmHg, O2sat = 41.1%), mild hypercapnia and compensated respiratory acidosis. Echocardiographic examination revealed a complete transposition of the great arteries in combination with a ventricular septal defect through which blood shunted bidirectionally. Cardiac catheterization confirmed that arterialization of blood of the systemic circulation solely occurred in the right ventricle through blood shunting from the left into the right ventricle. Results of post mortem examination are presented. Conclusion Complete transposition of the great arteries is a cyanotic congenital anomaly repeatedly reported in calves that should be considered as differential diagnosis in patients presenting with hypoxemia more severe than commonly encountered with other congenital cyanotic heart conditions. We give a comprehensive summary of the clinical presentation, diagnostic work-up and post mortem examination of a Belgian Blue cross-breed calf with complete transposition of the great arteries PMID:21619631

  2. [CORRECTION OF HEMOSTASIS WITH BLOOD PRODUCTS IN THE SURGICAL TREATMENT OF CONGENITAL HEART DISEASE IN INFANTS AND YOUNG CHILDREN].

    PubMed

    Rybka, M M; Samsonova, N N; Klimovich, L G; Rogalskaya, E A; Khichagov, D Ya; Tataryan, F E

    2015-01-01

    The article deals with the safety and efficiency of recombinant activated factor VII (Coagil VII, Russia) and prothrombin complex concentrate (protromplex-600, Baxter Austria) in the neonatal and pediatric cardiac surgery. The study included 56 children aged from 7 days to 5.5 years underwent surgery with cardiopulmonary bypass for congenital heart defects repair. Clinical and laboratory evidences suggest that Coagil VII and protromplex-600 effective for bleeding stop. The drugs have no negative impact on hemodynamics. We did not identify allergic reactions and thrombosis associated with the introduction of drugs in the pen operative period. PMID:26852579

  3. 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

  4. The pineal gland and cancer. I. Pinealectomy corrects congenital hormonal dysfunctions and prolongs life of cancer-prone C3H/He mice.

    PubMed

    Bulian, D; Pierpaoli, W

    2000-08-01

    Hormonal derangements almost invariably anticipate and signal the onset of tumors. Chronic, nocturnal melatonin administration delays aging in normal strains of mice. On the contrary it promotes and accelerates the onset of tumors in the cancer-prone strain of C3H/He mice. Grafting of a young pineal gland into aging mice prolongs their longevity and maintains juvenile circadian hormonal functions while pinealectomy (Px) does the opposite. We investigated if Px in C3H/He mice would modify their congenitally deranged pituitary function and affect their longevity. It was found that contrarily to Px in normal mice, Px in C3H/He mice remarkably maintains juvenile night levels of thyroid hormones and lipids, preserves a cell-mediated immune response and significantly prolongs their life. The pineal gland and its pathology may be the key for understanding, not only the causes of metabolic aging, but also the origin of those congenital or progressive aging-related hormonal alterations preceding onset of all tumors and thus allow preventive corrective interventions with pineal-derived agents. PMID:10900346

  5. Congenital Hypothyroidism

    MedlinePlus

    ... Body in Balance › Congenital Hypothyroidism Fact Sheet Congenital Hypothyroidism March, 2012 Download PDFs English Espanol Editors Rosalind S. ... MD Susan R. Rose, MD What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  6. Facts about Transposition of the Great Arteries

    MedlinePlus

    ... Septal Defect Atrioventricular Septal Defect Coarctation of the Aorta D-Transposition of the Great Arteries Hypoplastic Left ... of the heart—the pulmonary artery and the aorta —are switched in position, or “transposed”. Normally, blood ...

  7. Transposition of the Greater Arteries (TGA)

    MedlinePlus

    ... Heart Disease Diseases of the arteries, valves, and aorta, as well as cardiac rhythm disturbances Aortic Valve ... Transposition of the Great Arteries Coarctation of the Aorta Truncus Arteriosus Single Ventricle Defects Lung, Esophageal, and ...

  8. Is the "I-Sign" in the 3-Vessel and Trachea View a Valid Tool for Prenatal Diagnosis of D-Transposition of the Great Arteries?

    PubMed

    Palatnik, Anna; Gotteiner, Nina L; Grobman, William A; Cohen, Leeber S

    2015-07-01

    Prenatal diagnosis of D-transposition of the great arteries remains less frequent compared to other major congenital heart defects. In this study, we examined how often the 3-vessel and trachea view was abnormal in a large series of prenatally diagnosed cases of D-transposition of the great arteries. We found that an abnormal 3-vessel and trachea view in the shape of an "I" ("I-sign"), which represents an anteriorly displaced aorta, was present in all fetuses with D-transposition of the great arteries when a 3-vessel and trachea view was successfully obtained. Therefore we believe that the 3-vessel and trachea view can be used to reliably detect D-transposition of the great arteries during prenatal sonography. PMID:26112638

  9. Correction.

    PubMed

    2015-11-01

    In the article by Heuslein et al, which published online ahead of print on September 3, 2015 (DOI: 10.1161/ATVBAHA.115.305775), a correction was needed. Brett R. Blackman was added as the penultimate author of the article. The article has been corrected for publication in the November 2015 issue. PMID:26490278

  10. Trajectories of Parasympathetic Nervous System Function before, during, and after Feeding in Infants with Transposition of the Great Arteries

    PubMed Central

    Harrison, Tondi M.

    2011-01-01

    Background Compromised parasympathetic response to stressors may underlie feeding difficulties in infants with complex congenital heart defects, but little is known about the temporal pattern of parasympathetic response across phases of feeding. Objectives To describe initial data exploration of trajectories of parasympathetic response to feeding in 15 infants with surgically corrected transposition of the great arteries and to explore effects of feeding method, feeding skill, and maternal sensitivity on trajectories. Method In this descriptive, exploratory study, parasympathetic function was measured using high frequency heart rate variability (HF HRV), feeding skill was measured using the Early Feeding Skills assessment, and maternal sensitivity was measured using the Parent-Child Early Relational Assessment. Data were collected before, during, and after feeding at 2 weeks and 2 months of age. Trajectories of parasympathetic function and relationships with possible contributing factors were examined graphically. Results Marked between-infant variability in HF HRV across phases of feeding was apparent at both ages, although attenuated at 2 months. Four patterns of HF HRV trajectories across phases of feeding were identified and associated with feeding method, feeding skill, and maternal sensitivity. Developmental increases in HF HRV were apparent in most breastfed, but not bottle-fed, infants. Discussion This exploratory data analysis provided critical information in preparation for a larger study in which varying trajectories and potential contributing factors can be modeled in relationship to infant outcomes. Findings support inclusion of feeding method, feeding skill, and maternal sensitivity in modeling parasympathetic function across feeding. PMID:21543958

  11. Correction.

    PubMed

    2015-12-01

    In the article by Narayan et al (Narayan O, Davies JE, Hughes AD, Dart AM, Parker KH, Reid C, Cameron JD. Central aortic reservoir-wave analysis improves prediction of cardiovascular events in elderly hypertensives. Hypertension. 2015;65:629–635. doi: 10.1161/HYPERTENSIONAHA.114.04824), which published online ahead of print December 22, 2014, and appeared in the March 2015 issue of the journal, some corrections were needed.On page 632, Figure, panel A, the label PRI has been corrected to read RPI. In panel B, the text by the upward arrow, "10% increase in kd,” has been corrected to read, "10% decrease in kd." The corrected figure is shown below.The authors apologize for these errors. PMID:26558821

  12. [Balloon (Rashkind) atrio-septostomy in transposition of great vessels in the neonatal period].

    PubMed

    González de Dios, J; Blanco Bravo, D; Burgueros Valero, M; Fernández Ruiz, A; Moreno Granado, F; Pérez Rodríguez, J; Quero Jiménez, J

    1993-08-01

    Analysis of the balloon atrial septostomy (BA) for treatment of the transposition of the great arteries (TVG) during the neonatal period will allow the evaluation of some of the changes that have occurred in the diagnosis and therapy of this congenital cardiopathy. We performed a retrospective survey of the management, evolution complications of 24 BA as a palliative technique in TGV cases, admitted to the Neonatal Intensive Care Unit during a 5 1/2 year period. The aim of the study was to evaluate the factors that indicated a bad prognosis by comparing patients that are still alive (21) with those that are dead (3). The mean age at BA performance was 4.5 +/- 5.5 days. The biological constants prior to catheterization were normal, maintaining good oxygenation, administering prostaglandins in 80% of the patients and mechanical ventilation in 25% of the patients. BA outcome was considered as good in 68%, moderate in 12% and bad in 20% of the cases. Intra-catheterization complications, mainly hemorrhages and bradycardia, were suffered by 40% of the patients and one patient died during catheterization. We could see a progressive arterial desaturation due to the lack of efficacy of the BA. As bad post-catheterization outcome factors were found: hypotension, arrhythmia, hemorrhage, greater need of dobutamine, volume expansion and mechanical ventilation. Our principal conclusion is that, although BA has improved the prognosis of newborns with TGV, because of the progressive worsening of the patients during the months following the BA, it is necessary to perform early corrective surgery. PMID:8239208

  13. Transposition/Fusion: A Clinician’s Dilemma and Challenge - 12 Months Follow-up

    PubMed Central

    Dhaded, Sunil; Hegde, Prashant; Patil, Roopa; Dhaded, Neha

    2015-01-01

    Fusion or syndontia is a sequele of the union of two normal and separated tooth buds. Transposition refers to the interchange in the position of two permanent teeth within the same quadrant in the oral cavity. The simultaneous incidence of both these entities is a rare concurrence and warrants endodontic and surgical soft tissue correction. The following manuscript describes a case report of this rare combination and its multidisciplinary management for functional and esthetic correction PMID:26668493

  14. Transposition/Fusion: A Clinician's Dilemma and Challenge - 12 Months Follow-up.

    PubMed

    Dhaded, Sunil; Hegde, Prashant; Patil, Roopa; Dhaded, Neha

    2015-01-01

    Fusion or syndontia is a sequele of the union of two normal and separated tooth buds. Transposition refers to the interchange in the position of two permanent teeth within the same quadrant in the oral cavity. The simultaneous incidence of both these entities is a rare concurrence and warrants endodontic and surgical soft tissue correction. The following manuscript describes a case report of this rare combination and its multidisciplinary management for functional and esthetic correction. PMID:26668493

  15. Intermolecular Transposition of Is10 Causes Coupled Homologous Recombination at the Transposition Site

    PubMed Central

    Eichenbaum, Z.; Livneh, Z.

    1995-01-01

    Interplasmid and chromosome to plasmid transposition of IS10 were studied by assaying inactivation of the phage 434 cI gene, carried on a low copy number plasmid. This was detected by the activity of the tet gene expressed from the phage 434 P(R) promoter. Each interplasmid transposition resulted in the fusion of the donor and acceptor plasmids into cointegrate structure, with a 9-bp duplication of the target DNA at the insertion site. Cointegrate formation was abolished in δrecA strains, although simple insertions of IS10 were observed. This suggests a two-stage mechanism involving IS10 conservative transposition, followed by homologous recombination between the donor and the acceptor. Two plasmids carrying inactive IS10 sequences were fused to cointegrates at a 100-fold lower frequency, suggesting that homologous recombination is coupled to and stimulated by the transposition event. Each IS10 transposition from the chromosome to the acceptor plasmid involved replicon fusion, providing a mechanism for IS10-mediated integration of extrachromosomal elements into the chromosome. This was accompanied by the formation of an additional copy of IS10 in the chromosome. Thus, like replicative transposition, conservative transposition of IS10 is accompanied by cointegrate formation and results in duplication of the IS10. PMID:7672587

  16. 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.

  17. 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.

  18. [ANESTHESIA DURING THE SEPARATION OF THE FETUS IN FETU IN A 2 DAYS-LIFE CHILD WITH ACCOMPANYING NON-CORRECTED CRITICAL CONGENITAL HEART DISEASE (CHD)].

    PubMed

    Agavelyan, E G; Svarinskaya, E M; Ovchinnikov, S V

    2016-01-01

    The article describes a clinical case of treating a few- hours-life child with birth body weight--2900 g, length--50 cm, who had been extremely rare complex congenital malformations: fetus in fetu in the epigastrium with satisfactorily formed the lower half of the body of the failed twin, omphalocele and severe CHD. The surgical treatment was in terms of multicomponent endotracheal anesthesia. At the end of surgery puncture and catheterization of the epidural space at the level of L1/L2 holding the catheter up to Th9/Th10 for postoperative analgesia was made. Cardiotonic therapy and mechanical ventilation was performed after the operation. There have been signs of high pulmonary hypertension. On the 6th day of life the child was transferred to the Department of cardiac surgery and intensive care for the correction of complex combined CHD. At the age of 8 days of life performed the operation. Clamping of the aorta lasted for 21 minutes. On the 24th day of life has been deteriorating due to increasing renal failure and development of multiorgan failure, disseminated intravascular coagulation syndrome. After repeated resuscitations the child died at the age of 25 days of life. PMID:27192856

  19. Correction.

    PubMed

    2016-02-01

    Neogi T, Jansen TLTA, Dalbeth N, et al. 2015 Gout classification criteria: an American College of Rheumatology/European League Against Rheumatism collaborative initiative. Ann Rheum Dis 2015;74:1789–98. The name of the 20th author was misspelled. The correct spelling is Janitzia Vazquez-Mellado. We regret the error. PMID:26881284

  20. 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. PMID:26763012

  1. A new technique for ovarian transposition

    SciTech Connect

    Belinson, J.L.; Doherty, M.; McDay, J.B.

    1984-08-01

    A technique of ovarian transposition is presented. The major modification of other techniques is the retention of the ovarian vascular pedicle in the retroperitoneum while placing the ovary intraperitoneally. The primary purpose of this technique is avoidance of castration due to radiation in women being treated for carcinoma of the uterine cervix.

  2. Correction.

    PubMed

    2015-05-22

    The Circulation Research article by Keith and Bolli (“String Theory” of c-kitpos Cardiac Cells: A New Paradigm Regarding the Nature of These Cells That May Reconcile Apparently Discrepant Results. Circ Res. 2015:116:1216-1230. doi: 10.1161/CIRCRESAHA.116.305557) states that van Berlo et al (2014) observed that large numbers of fibroblasts and adventitial cells, some smooth muscle and endothelial cells, and rare cardiomyocytes originated from c-kit positive progenitors. However, van Berlo et al reported that only occasional fibroblasts and adventitial cells derived from c-kit positive progenitors in their studies. Accordingly, the review has been corrected to indicate that van Berlo et al (2014) observed that large numbers of endothelial cells, with some smooth muscle cells and fibroblasts, and more rarely cardiomyocytes, originated from c-kit positive progenitors in their murine model. The authors apologize for this error, and the error has been noted and corrected in the online version of the article, which is available at http://circres.ahajournals.org/content/116/7/1216.full ( PMID:25999426

  3. 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.

  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. PMID:26936424

  5. Intra-atrial Reentrant Tachycardia in Complete Transposition of the Great Arteries Without Femoral Venous Access.

    PubMed

    Borne, Ryan T; Kay, Joseph; Fagan, Thomas; Nguyen, Duy Thai

    2016-03-01

    Catheter ablation for patients with transposition of the great arteries (d-TGA) requires multiple considerations and careful preprocedural planning. Knowledge of the patient's anatomy and surgical correction, in addition to electroanatomic mapping and entrainment maneuvers, are important to identify and successfully treat arrhythmias. This case was unique in that the lack of femoral venous access required transhepatic venous access and bidirectional block was attained with ablation lesions along the cavotricuspid isthmus on both sides of the baffle. PMID:26920194

  6. Congenital heart defect - corrective surgery

    MedlinePlus

    ... to the lungs. The child may have a shunt procedure done first. A shunt moves blood from one area to another. This ... too sick to go through surgery. During a shunt procedure, the surgeon makes a surgical cut in ...

  7. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-03-01

    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. PMID:27607320

  8. 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.

  9. 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

  10. 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

  11. The Right Heart in Congenital Heart Disease, Mechanisms and Recent Advances

    PubMed Central

    Guihaire, Julien; Haddad, François; Mercier, Olaf; Murphy, Daniel J.; Wu, Joseph C.; Fadel, Elie

    2012-01-01

    In patients with congenital heart disease, the right heart may support the pulmonary or the systemic circulation. Several congenital heart diseases primarily affect the right heart including Tetralogy of Fallot, transposition of great arteries, septal defects leading to pulmonary vascular disease, Ebstein anomaly and arrhythmogenic right ventricular cardiomyopathy. In these patients, right ventricular dysfunction leads to considerable morbidity and mortality. In this paper, our objective is to review the mechanisms and management of right heart failure associated with congenital heart disease. We will outline pearls and pitfalls in the management of congenital heart disease affecting the right heart and highlight recent advances in the field. PMID:23483726

  12. [Congenital thoracic defects demonstrated by radiophotography].

    PubMed

    Jonescu, N; Ionescu, G C

    1991-01-01

    Costal congenital defects are malformations or anomalies of dimension, location or structure of the ribs, generated by disturbances of prenatal development. These anomalies appear in mesoderm which also gives rise to skeleton, muscles, serums, conjunctive tissues, circulatory system and urogenital apparatus. Of the 59,225 persons examined, 502 had costal congenital defects. The presence of azygos lobe (Wrisberg's lobe) in 158 cases (0.26%), of right aortic (arcs high dextroposition of cross) in 2 cases and (3%000) dextroposition of heart in 6 cases (10%000), out of which a situs inversus (complete cardiovascular transposition) were noticed as congenital defects with common origin in embryonic mesoderm. Medical radiophotography can be used as a method in detecting congenital costal defects. Other defects in other organs can be also detected. The congenital costal defects found in an rf examined population, representing a part of the total of congenital malformations, may be one of their indirect epidemiologic indices. Their existence may lead to the explanation of the symptomatology of the nervous compressive type on brachiocephalic vascular, etc. plexus. As some of the defects are an excess of osseous and cartilaginous matter, they may be used, when indicated, as autografts. PMID:1823198

  13. 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. PMID:27301600

  14. Recent Advances in Surgery of Congenital Heart Disease

    PubMed Central

    Gerbode, Frank; Sharma, Giridhari

    1970-01-01

    In the cyanotic group palliative procedures for transposition of the great arteries are frequently life-saving in infancy, and the definitive operations such as the atrial baffle, and the Rastelli procedure for those with ventricular septal defect and pulmonic stenosis, are now firmly established. In tetralogy of Fallot shunting procedures continue to be employed in infancy and early childhood, and the complete repair is usually done after the age of five. Corrective operations for total anomalous venous return may have to be staged, and the results are more satisfactory in older children. The various forms of endocardial cushion defects can usually be recognized accurately preoperatively, and where the normal anatomical relationships can be restored, excellent results obtained. Brilliant operative success can now be had in some forms of truncus arteriosus and double outlet right ventricle. It is quite common to find congenital heart disease in adults, frequently after many years of having been treated as rheumatic heart disease. The operative risk in this group is less than 10 percent, and in most instances such patients are restored to their normal physiological age after operation. PMID:4926370

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

    NASA Astrophysics Data System (ADS)

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

    2016-08-01

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

  16. Congenital vertical talus: a review.

    PubMed

    McKie, Janay; Radomisli, Timothy

    2010-01-01

    Congenital vertical talus, also known as congenital convex pes valgus, is an uncommon disorder of the foot, manifested as a rigid rocker-bottom flatfoot. Radiographically, it is defined by dorsal dislocation of the navicular on the talus. This condition requires surgical correction. If left untreated, this foot deformity results in a painful and rigid flatfoot with weak push-off power. This article provides an overview of this rare foot deformity, outlines appropriate workup of the disorder, and details current treatment options, with emphasis on the evolution of treatment of congenital vertical talus. PMID:19963176

  17. Congenital Myopathy

    MedlinePlus

    ... arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time. Central core ... difficulties occur as well. Some children have weakened eye movements. Congenital fiber-type disproportion myopathy is a rare ...

  18. Congenital cataract

    MedlinePlus

    ... of the following birth defects: Chondrodysplasia syndrome Congenital rubella Conradi-Hünermann syndrome Down syndrome (trisomy 21) Ectodermal ... Images Eye Cataract - close-up of the eye Rubella syndrome Cataract References Dahan E. Pediatric cataract surgery. ...

  19. Congenital syphilis

    MedlinePlus

    ... fact that this disease can be cured with antibiotics if caught early, rising rates of syphilis among pregnant women in the United States have increased the number of infants born with congenital syphilis.

  20. [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. PMID:27076244

  1. Congenital toxoplasmosis

    MedlinePlus

    Congenital toxoplasmosis is a group of symptoms that occur when an unborn baby (fetus) is infected with the parasite ... Toxoplasmosis infection can be passed to a developing baby if the mother becomes infected while pregnant. The ...

  2. Congenital rubella

    MedlinePlus

    ... is infected with the virus that causes German measles. Congenital means the condition is present at birth. ... Gershon AA. Rubella virus (German measles). In: Mandell GL, Bennett JE, ... . 8th ed. Philadelphia, PA: Elsevier Churchill Livingstone; ...

  3. Congenital rubella

    MedlinePlus

    ... mother is infected with the virus that causes German measles. Congenital means the condition is present at ... Gershon AA. Rubella virus (German measles). In: Mandell GL, Bennett JE, ... of Infectious Diseases . 8th ed. Philadelphia, PA: Elsevier ...

  4. Patterns of Hermes transposition in Drosophila melanogaster.

    PubMed

    Guimond, N; Bideshi, D K; Pinkerton, A C; Atkinson, P W; O'Brochta, D A

    2003-03-01

    Transposable elements are being developed as tools for genomics and for the manipulation of insect genotypes for the purposes of biological control. An understanding of their transposition behavior will facilitate the use of these elements. The behavior of an autonomous Hermes transposable element from Musca domestica in the soma and germ-line of Drosophila melanogaster was investigated using the method of transposon display. In the germ-line, Hermes transposed at a rate of approximately 0.03 jumps per element per generation. Within the soma Hermes exhibited markedly non-random patterns of integration. Certain regions of the genome were distinctly preferred over others as integration targets, while other regions were underrepresented among the integration sites used. One particular site accounted for 4.4% of the transpositions recovered in this experiment, all of which were located within a 2.5-kb region of the actin5C promoter. This region was also present within the Hermes element itself, suggesting that this clustering is an example of transposable element "homing". Clusters of integration sites were also observed near the original donor sites; these represent examples of local hopping. The information content (sequence specificity) of the 8-bp target site was low, and the consensus target site resembles that determined from plasmid-based integration assays. PMID:12655404

  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. PMID:27200284

  7. Anesthetic considerations in a child with unrepaired D-transposition of great arteries undergoing noncardiac surgery

    PubMed Central

    Mathur, Pooja; Khare, Arvind; Jain, Neena; Verma, Priya; Mathur, Vivek

    2015-01-01

    D-transposition of great arteries (D-TGA) is the most common cyanotic congenital heart disease diagnosed at birth. There is ventriculoarterial discordance leading to parallel circulation. The postnatal survival depends on intercirculatory mixing of oxygenated and deoxygenated blood at various levels through atrial septal defect, ventricular septal defect or patent ductus arteriosus. The anesthesiologist must have an understanding of concepts of shunting and other long-term consequences of transposition of great arteries (TGA) in order to tailor the anesthetic technique to optimize the hemodynamic variables and oxygenation in the perioperative period. The preoperative evaluation includes echocardiography to delineate the type of TGA, associated lesions and extent and direction of shunts. Oxygen saturation is influenced by the ratio of pulmonary vascular resistance (PVR) to systemic vascular resistance. Thus, care should be taken to avoid an increase in PVR which can lead to decreased pulmonary blood flow leading to hypoxia. We report a case of an 8-year-old child with unrepaired D-TGA, who presented to us for craniotomy for drainage of brain abscess. PMID:26712994

  8. Congenital scoliosis - Quo vadis?

    PubMed

    Debnath, Ujjwal K; Goel, Vivek; Harshavardhana, Nanjanduppa; Webb, John K

    2010-04-01

    Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV) which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions) and patient's age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only) surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the armamentarium of the

  9. Intraoperative monitoring of torsion to prevent vertical deviations during augmented vertical rectus transposition surgery

    PubMed Central

    Holmes, Jonathan M.; Hatt, Sarah R.; Leske, David A.

    2012-01-01

    Background Total transposition of the superior and inferior rectus muscle laterally, with augmentation sutures, may be complicated by induction of an undesirable vertical deviation. Induced vertical misalignment may be associated with changes in torsion. We have developed a simple method to monitor intraoperative torsion that may reduce the incidence of vertical deviations. Methods We reviewed consecutive cases of total abducens palsy or esotropic Duane syndrome treated with augmented lateral transposition of the superior and inferior rectus muscles, where the 12 o’clock and 6 o’clock intraoperative positions were initially marked with a dot at the limbus using a surgical pen. The location of the marks was monitored during tying of the augmentation sutures; changes in torsion were monitored intraoperatively. Results Records of 9 cases of augmented vertical rectus transposition were reviewed. Based on intraoperative assessment of torsion by observing the position of the preplaced limbal dots, the inferior rectus augmentation suture was tied less tightly than the superior rectus suture, leaving a gap of 1–3 mm between the inferior and lateral rectus muscles in 8 of 9 cases. The augmentation suture was totally removed in 1 case. Following these intraoperative adjustments, there was no induced intraoperative torsion, whereas further tightening of the inferior suture induced extorsion. Six weeks postoperatively, 8 of 9 patients did not experience a symptomatic vertical deviation. Conclusions When performing augmented transposition procedures, intraoperative monitoring of torsion may reduce the incidence of inadvertent vertical deviations and torsion. This technique may also be useful in other cases where correction or avoidance of torsion is needed. PMID:22525168

  10. 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

  11. Congenital duodenal obstruction: causes and imaging approach.

    PubMed

    Brinkley, Michael F; Tracy, Elisabeth T; Maxfield, Charles M

    2016-07-01

    Bilious emesis is a common cause for evaluation in pediatric radiology departments. There are several causes of congenital duodenal obstruction, most of which require elective surgical correction, but the potential of malrotation with midgut volvulus demands prompt imaging evaluation. We review the various causes of congenital duodenal obstruction with an emphasis on the approach to imaging evaluation and diagnosis. PMID:27324508

  12. [Congenital syphilis].

    PubMed

    Tabák, Réka; Tabák, Adám; Várkonyi, Viktória

    2010-01-10

    Syphilis has been a re-emerging disease in the past few decades. As a consequence, the prevalence of congenital syphilis is expected to be on the rise. Maternal syphilis may be related to several pathologies, such as miscarriage, stillbirth, or congenital syphilis in the child. Infants that acquire syphilis in utero are frequently asymptomatic, and the organ damage caused by the infection may be apparent only years later. Syphilis is a curable disease, and most of its complications in the infant can be prevented by screening and treating the mother. Every newborn potentially infected should be treated with penicillin immediately starting on the day of birth. PMID:20061233

  13. Congenital hemifacial hyperplasia.

    PubMed

    Deshingkar, S A; Barpande, S R; Bhavthankar, J D

    2011-07-01

    Congenital hemifacial hyperplasia (CHH) is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge. PMID:22090778

  14. 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

  15. 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." PMID:25726292

  16. 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…

  17. 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

  18. IS50-mediated inverse transposition: specificity and precision.

    PubMed

    Nag, D K; DasGupta, U; Adelt, G; Berg, D E

    1985-01-01

    The IS50 elements, which are present as inverted repeats in the kanamycin-resistance transposon, Tn5, can move in unison carrying with them any interstitial DNA segment. In consequence, DNA molecules such as a lambda::Tn5 phage genome are composed of two overlapping transposons - the kan segment bracketed by IS50 elements (Tn5), and lambda bracketed by IS50 elements. During direct transposition, mediated by IS50 "O" (outside) ends, the kan gene is moved and the lambda vector is left behind. During inverse transposition, mediated by the "I" (inside) ends of the IS50 elements, the lambda vector segment is moved and the kan gene is left behind. Direct transposition is several orders of magnitude more frequent than inverse transposition (Isberg and Syvanen, 1981; Sasakawa and Berg, 1982). We assessed the specificity and precision of the rare events mediated by pairs of I ends by mapping and sequencing independent inverse transpositions from a lambda::Tn5 phage into the amp and tet genes of plasmid pBR322. Using restriction analyses, 32 and 40 distinct sites of insertion were found among 46 and 72 independent inverse transpositions into the amp and tet genes, respectively. Eleven sites were used in two or more insertion events, and the two sites in tet used most frequently corresponded to major hotspots for the insertion of the Tn5 (by direct transposition). The sequences of 22 sites of inverse transposition (including each of the sites used more than once) were determined, in eleven cases by analyzing both pBR322-IS50 junctions, and in eleven others by sequencing one junction. The sequence of the "I" end of IS50 was preserved and 9-bp target sequence duplications were present in every case analyzed. GC pairs were found at each end of the target sequence duplication in ten of the eleven sites used more than once, and also in seven of the other eleven sites. Our data indicate that transposition mediated by pairs of "I" ends is similar in its specificity and precision to

  19. 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. PMID:26704658

  20. Congenital Cataract Screening.

    PubMed

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  1. Congenital Cataract Screening

    PubMed Central

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  2. Congenital Adrenal Hyperplasia

    MedlinePlus

    MENU Return to Web version Congenital Adrenal Hyperplasia Overview What is congenital adrenal hyperplasia? Congenital adrenal hyperplasia, or CAH, is a disorder that affects the adrenal glands. The adrenal ...

  3. An assay to monitor the activity of DNA transposition complexes yields a general quality control measure for transpositional recombination reactions

    PubMed Central

    Pulkkinen, Elsi; Haapa-Paananen, Saija; Savilahti, Harri

    2014-01-01

    Transposon-based technologies have many applications in molecular biology and can be used for gene delivery into prokaryotic and eukaryotic cells. Common transpositional activity measurement assays suitable for many types of transposons would be beneficial, as diverse transposon systems could be compared for their performance attributes. Therefore, we developed a general-purpose assay to enable and standardize the activity measurement for DNA transposition complexes (transpososomes), using phage Mu transposition as a test platform. This assay quantifies transpositional recombination efficiency and is based on an in vitro transposition reaction with a target plasmid carrying a lethal ccdB gene. If transposition targets ccdB, this gene becomes inactivated, enabling plasmid-receiving Escherichia coli cells to survive and to be scored as colonies on selection plates. The assay was validated with 3 mini-Mu transposons varying in size and differing in their marker gene constitution. Tests with different amounts of transposon DNA provided a linear response and yielded a 10-fold operational range for the assay. The colony formation capacity was linearly correlated with the competence status of the E.coli cells, enabling normalization of experimental data obtained with different batches of recipient cells. The developed assay can now be used to directly compare transpososome activities with all types of mini-Mu transposons, regardless of their aimed use. Furthermore, the assay should be directly applicable to other transposition-based systems with a functional in vitro reaction, and it provides a dependable quality control measure that previously has been lacking but is highly important for the evaluation of current and emerging transposon-based applications. PMID:26442171

  4. Functional Characterization of the Bari1 Transposition System

    PubMed Central

    Palazzo, Antonio; Marconi, Simona; Specchia, Valeria; Bozzetti, Maria Pia; Ivics, Zoltán; Caizzi, Ruggiero; Marsano, René Massimiliano

    2013-01-01

    The transposons of the Bari family are mobile genetic elements widespread in the Drosophila genus. However, despite a broad diffusion, virtually no information is available on the mechanisms underlying their mobility. In this paper we report the functional characterization of the Bari elements transposition system. Using the Bari1 element as a model, we investigated the subcellular localization of the transposase, its physical interaction with the transposon, and its catalytic activity. The Bari1 transposase localized in the nucleus and interacted with the terminal sequences of the transposon both in vitro and in vivo, however, no transposition activity was detected in transposition assays. Profiling of mRNAs expressed by the transposase gene revealed the expression of abnormal, internally processed transposase transcripts encoding truncated, catalytically inactive transposase polypeptides. We hypothesize that a post-transcriptional control mechanism produces transposase-derived polypeptides that effectively repress transposition. Our findings suggest further clues towards understanding the mechanisms that control transposition of an important class of mobile elements, which are both an endogenous source of genomic variability and widely used as transformation vectors/biotechnological tools. PMID:24244492

  5. Vertical Rectus Muscles Transposition in Large Exotropia with Medial Rectus Muscle Transection Following Endoscopic Sinus Surgery

    PubMed Central

    Cho, Yoonae A.; Rah, Sang Hoon; Kim, Myung Mi

    2008-01-01

    Purpose To evaluate the effect of transposition procedures on the vertical rectus muscle (VRM) in the patients who underwent a medial rectus muscle (MR) transection after endoscopic sinus surgery (ESS). Methods In 4 patients with exotropia (XT) and a lack of adduction after ESS, orbital CT or MRI revealed a complete transection of the midportion of the MR. Full-tendon VRM transposition was performed within 3 months after injury (early surgery) in 2 patients with 40Δ XT. Two patients with 70Δ and 85Δ XT underwent an X-type augmented Hümmelsheim procedure, which involved pulling each half-tendon and crossing it through the undersurface of the severed MR to the other end of the MR insertion, concurrently with an ipsilateral lateral rectus (LR) recession 11 months and 36 months after ESS, respectively. The adduction deficits were divided into -1 through to -8. The patients were followed up for more than than 1.5 years. Results Postoperatively, 3 patients showed orthophoria and no diplopia in the primary position. The adduction deficits improved to -3.5 or -4. One patient who underwent an X-type augmented Hümmelsheim procedure showed a residual XT of 25Δ. Conclusions VRM transposition is effective in correcting a large XT secondary to a MR transection after ESS. When a longstanding large-angle XT with severe contracture of the ipsilateral LR and massive scarring of the adjacent tissues is present, the X-type augmented Hümmelsheim procedure coupled with an ipsilateral LR recession had an augmenting effect. PMID:18612228

  6. Transposition of great arteries is associated with increased carotid artery stiffness.

    PubMed

    Mersich, Beatrix; Studinger, Peter; Lenard, Zsuzsanna; Kadar, Krisztina; Kollai, Mark

    2006-06-01

    Transposition of great arteries is the consequence of abnormal aorticopulmonary septation. Animal embryonic data indicate that septation and elastogenesis are related events, but human and clinical data are not available. We tested the hypothesis that large artery elastic function was impaired in patients with transposition of great arteries. We studied 34 patients aged 9 to 19 years, 12+/-3 years after atrial switch operation; 14 patients aged 7 to 9 years, 8+/-1 years after arterial switch operation; and 108 healthy control subjects matched for age. Carotid artery diastolic diameter and pulsatile distension were determined by echo wall-tracking; carotid blood pressure was measured by tonometry. Systolic pressure was higher and diastolic pressure was lower in patients than in controls. Patients with atrial and arterial switch repair were compared with their respective controls by 2-factor ANOVA. For patients with atrial switch repair versus control, stiffness index beta was 4.9+/-1.5 versus 3.1+/-1.0 (P<0.001); for patients witch arterial switch versus control, stiffness index beta was 3.8+/-1.1 versus 2.1+/-0.6 (P<0.001). Similar differences were observed for carotid compliance, distensibility, and incremental elastic modulus as well. The interaction term was not significant for any of the elastic variables, indicating that carotid stiffening was a characteristic of the condition and not the consequence of different hemodynamics. Carotid artery is markedly stiffer in patients, suggesting that impaired elastogenesis may constitute part of the congenital abnormality. Since carotid artery stiffness has been established as an independent cardiovascular risk factor, this condition may have consequences in the clinical management of these patients. PMID:16618837

  7. On the Interaction of Letter Transpositions and Morphemic Boundaries

    PubMed Central

    Rueckl, Jay G.; Rimzhim, Anurag

    2012-01-01

    Investigations of the impact of morphemic boundaries on transposed-letter priming effects have yielded conflicting results. Five masked priming lexical decision experiments were conducted to examine the interaction of letter transpositions and morphemic boundaries with English suffixed derivations. Experiments 1-3 found that responses to monomorphemic target words (e.g., SPEAK) were facilitated to the same extent by morphologically related primes containing letter transpositions that did (SPEAEKR) or did not (SPEKAER) cross a morphemic boundary. This pattern was also observed in Experiments 4 and 5, in which the targets (e.g. SPEAKER) were the base forms of the transposed-letter primes. Thus, in these experiments the influence of the morphological structure of a transposed-letter prime did not depend on whether the letter transposition crossed a morphological boundary. PMID:22933829

  8. 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

  9. Congenital Anomalies in Infant with Congenital Hypothyroidism

    PubMed Central

    Razavi, Zahra; Yavarikia, Alireza; Torabian, Saadat

    2012-01-01

    Objective Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran. Methods The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study was conducted in infants diagnosed with congenital hypothyroidism being followed up in Pediatric Endocrinology Clinic of Besat Hospital, a tertiary care centre in Hamadan. Cases included all infants with congenital hypothyroidism diagnosed through newborn screening program or detected clinically. Anomalies were identified by clinical examination, echocardiography, and X-ray of the hip during the infant’s first year of life. Results A total of 150 infants with biochemically confirmed primary congenital hypothyroidism (72 females and 78 males) were recruited during the period between May 2006-2010. Overall, 30 (20%) infants had associated congenital anomalies. The most common type of anomaly was Down syndrome. Seven infants (3.1%) had congenital cardiac anomalies such as: ASD (n=3), VSD (n=2), PS (n =1), PDA (n=1). Three children (2.6%) had developmental dysplasia of the hip (n=3). Conclusion The overall frequency of Down syndrome, cardiac malformation and other birth defect was high in infants with CH. This reinforces the need to examine all infants with congenital hypothyroidism for the presence of associated congenital anomalies. PMID:23074545

  10. 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

  11. Barbara McClintock and the transposition concept.

    PubMed

    Barahona, A

    1997-12-01

    Barbara McClintock was awarded Nobel Prize in Physiology or Medicine in 1983 for the discovery and characterization of jumping genes or transposons. In 1948 she described for the first time maize controlling elements. She proposed 'transposition' as a mechanism that relates phenotypic characteristics with the presence of unstable genes. This discovery was 'ignored' even though she was recognized as a brilliant cytogeneticist. In this paper I approach the matter of the maize research groups within which McClintock developed all of her work, and the problem of variegation in relation to unstable genes and transposition. PMID:11619571

  12. Adynamic and dynamic muscle transposition techniques for anal incontinence

    PubMed Central

    Barišić, Goran; Krivokapić, Zoran

    2014-01-01

    Gracilis muscle transposition is well established in general surgery and has been the main muscle transposition technique for anal incontinence. Dynamization, through a schedule of continuous electrical stimulation, converts the fatigue-prone muscle fibres to a tonic fatigue-resistant morphology with acceptable results in those cases where there is limited sphincter muscle mass. The differences between gluteoplasty and graciloplasty, as well as the techniques and complications of both procedures, are outlined in this review. Overall, these techniques are rarely carried out in specialized units with experience, as there is a high revision and explantation rate. PMID:24759348

  13. Facts about dextro-Transposition of the Great Arteries (d-TGA)

    MedlinePlus

    ... Facts about dextro-Transposition of the Great Arteries (d-TGA) Language: English Español (Spanish) Recommend on Facebook ... What is dextro-Transposition of the Great Arteries (d-TGA)? Dextro-Transposition (pronounced DECKS-tro trans-poh- ...

  14. Congenital absence of pulmonary valve leaflets.

    PubMed Central

    Buendia, A; Attie, F; Ovseyevitz, J; Zghaib, A; Zamora, C; Zavaleta, D; Vargas-Barron, J; Richheimer, R

    1983-01-01

    Congenital absence of pulmonary valve leaflets is an uncommon condition usually associated with ventricular septal defect and an obstructive pulmonary valve ring. Twenty-one patients with these malformations are described. Twenty had an associated ventricular septal defect with ventriculoarterial concordance, and one also had transposition of the great arteries, ventricular septal defect, and obstructive pulmonary valve ring. The clinical features, cardiac catheterisation findings, and angiocardiographic results are presented. Twelve patients underwent cardiac surgery. Three patients died, one in the early, and the other two in the late postoperative period. The results, according to the surgical technique employed and postoperative cardiac catheterisation findings, showed that patients in whom the bioprostheses were implanted in the pulmonary position had a better late follow-up. Images PMID:6860509

  15. Congenital neuroblastoma

    PubMed Central

    Evans, A. R.

    1965-01-01

    The clinical histories and post-mortem findings in five cases of neuroblastoma are described, and an account given of the microscopic characteristics of the tumours. In four of the cases the tumour was present at birth and was probably so in the fifth case. In only one case was the presence of the malignant tumour a significant factor in causing death. The differential diagnosis of such tumours is discussed. The accumulated evidence of many recorded cases suggests that neuroblastoma, becoming manifest in the early months or weeks of life, and congenital tumour, would be included in such a group, and has an appreciably better prognosis than has this same tumour when it becomes manifest in later childhood. The literature is briefly reviewed to illustrate this aspect of prognosis and possible reasons for it are indicated. Images PMID:14247705

  16. Congenital Cholesteatoma.

    PubMed

    Walker, David; Shinners, Michael J

    2016-05-01

    Congenital cholesteatoma is one of the more common causes of the onset of childhood conductive hearing loss unrelated to middle ear effusion. If undiagnosed, the disease can progress to irreversibly destroy the conductive hearing architecture, as well as the surrounding skull base of the lateral temporal bone. When diagnosed early, the growth can be removed and the conductive hearing mechanism preserved in the vast majority of patients. Because most children are asymptomatic, the burden falls on primary care providers to perform pneumatic otoscopy and visualize all quadrants of the tympanic membrane even in young children who frequently resist attempts to conduct a thorough examination to rule out suspicious lesions. [Pediatr Ann. 2016;45(5):e167-e170.]. PMID:27171804

  17. Congenital amusia.

    PubMed

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. PMID:23622169

  18. Congenital hypothyroidism

    PubMed Central

    Agrawal, Pankaj; Philip, Rajeev; Saran, Sanjay; Gutch, Manish; Razi, Mohd Sayed; Agroiya, Puspalata; Gupta, Keshavkumar

    2015-01-01

    Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis) that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4) or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ) and the age at diagnosis. Levothyroxine (l-thyroxine) is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15μgm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential. PMID:25729683

  19. 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. PMID:22669840

  20. 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…

  1. 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.

  2. 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

  3. [Uncorrected transposition of the great arteries and large ventricular septum defect perioperative management of a caesarean section].

    PubMed

    Schummer, W; Schummer, C; Schleussner, E; Fröber, R; Ferrari, M; Fuchs, J

    2005-04-01

    Patients with congenital cyanotic heart disease are a challenge to the anaesthetist due to the individual haemodynamic characteristics. Maintaining a balance between systemic and pulmonary-vascular resistance is crucial. Here we outline the successful perioperative management of a 24-year-old female with uncorrected transposition of the great arteries (D-TGA) and large septal defect of the ventricle (functionally single ventricle). She was transferred to our perinatologic centre in the 32nd week of pregnancy with symptoms of increasing cardial insufficiency. The peripartum management was agreed upon at an interdisciplinary conference and caesarean section was performed in the 35th week of pregnancy with epidural anaesthesia and no significant problems. Due to hypercoagulability and the risk of "paradoxical" embolism, low molecular weight heparin was given for 6 weeks post partum. The infant was underweight and was admitted to the neonatal intensive care unit, where she made a satisfactory progress. PMID:15614542

  4. Summary of Clinical Experience of Modified Double Root Translocation in the Management of Complete Transposition of Great Arteries With Left Ventricular Outflow Tract Obstruction.

    PubMed

    Yang, Bin; Xu, Jing; Zhou, Zhiming; Wang, Ke; Chen, Jianchao; Chen, Hongling; Wen, Meng; Liang, Qiaoru

    2016-07-27

    To summarize the therapeutic effects of modified double root translocation (MDRT) in the management of congenital heart disease-transposition of great arteries (TGA) with ventricular septum defect (VSD) and left ventricular outflow tract obstruction (LVOTO). From May 2013 to March 2015, we treated 6 patients (4 males, 2 females, aged from 1 year and 8 months old to 5 years old) with complete transposition of great arteries with left ventricular outflow tract obstruction, SaO2 54 ± 7.3%; the outflow velocity of the left ventricular or pulmonary valve measured by Doppler was 4.46 ± 0.15 m/s, and the Nakata index was 217 ± 32 cm(2)/m(2). We carried out a double root translocation operation on these 6 patients.One patient developed low cardiac output syndrome 4 hours after the operation. Extracorporeal membrane oxygenation (ECMO) was performed, but the patient died of multiple organ failure. The other 5 patients all recovered and were discharged from the hospital. During the 3-month to 2-year follow-up period, these 5 patients all demonstrated NYHA Class I or NYHA Class II LVEF (65 ± 2.7) %; 4 had mild pulmonary regurgitation, 1 moderate pulmonary regurgitation; 3 no aortic regurgitation, and 2 micro aortic regurgitation, SaO2 99 ± 0.4%.Modified double root translocation is an effective treatment method in the management of complete transposition of great arteries with left ventricular outflow tract obstruction. PMID:27396558

  5. 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

  6. Congenital hypothyroidism.

    PubMed

    Rastogi, Maynika V; LaFranchi, Stephen H

    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

  7. Pregnancy outcomes in women with transposition of the great arteries and arterial switch operation.

    PubMed

    Tobler, Daniel; Fernandes, Susan M; Wald, Rachel M; Landzberg, Michael; Salehian, Omid; Siu, Samuel C; Colman, Jack M; Sermer, Matthew; Silversides, Candice K

    2010-08-01

    There is a growing population of young women of child-bearing age with complete transposition of the great arteries (TGA) who have had an arterial switch operation (ASO). Pregnancy imposes a hemodynamic stress on the heart and, therefore, adverse cardiac events can occur during this period; however, pregnancy outcomes in this population have not been well studied. We sought to describe cardiac outcomes during pregnancy in women with TGA who had undergone an ASO in childhood. Women were identified from 2 large tertiary care hospitals. A retrospective chart review was performed to determine the prevalence of adverse maternal cardiac events during pregnancy. Overall, 74 women of child-bearing age were identified, 9 of whom had 17 pregnancies. There were 4 miscarriages. Six women (67%) had clinically important valve (n = 5) and ventricular (n = 1) lesions before the index pregnancy. Two women developed cardiac complications during pregnancy; 1 woman with impaired left ventricular systolic function had nonsustained ventricular tachycardia and 1 woman with a mechanical systemic atrioventricular valve developed postpartum valve thrombosis. There were no maternal deaths. In conclusion, young women with TGA from this early cohort repaired with ASO are reaching child-bearing age. A significant proportion have residua and/or sequelae that can confer risk for adverse cardiac events in pregnancy. Co-ordinated care between a congenital heart disease specialist and a high-risk obstetrician should be implemented. PMID:20643256

  8. Congenital scoliosis – Quo vadis?

    PubMed Central

    Debnath, Ujjwal K; Goel, Vivek; Harshavardhana, Nanjanduppa; Webb, John K

    2010-01-01

    Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV) which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions) and patient's age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only) surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the armamentarium of the

  9. Congenital hypothyroidism.

    PubMed

    Abduljabbar, Mohammad A; Afifi, Ashraf M

    2012-01-01

    Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present at birth. Babies with CH who are not identified and treated promptly develop severe mental retardation. Most of the babies with CH do not manifest the typical known signs and symptoms of hypothyroidism, and this is most likely due to transplacental passage of some maternal thyroid hormone in addition to some residual neonatal thyroid function, as might be seen with thyroid hypoplasia, an ectopic gland, or mild dyshormonogenesis. Screening for CH has enabled the virtual eradication of the devastating effects of mental retardation due to sporadic CH in most developed countries of the world. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Permanent CH refers to a persistent deficiency of thyroid hormone that requires life-long treatment. Transient CH refers to a temporary deficiency of thyroid hormone that is discovered at birth but recovers to normal in the first few months or years of life. In the last several decades, there have been exciting advances in our understanding of fetal and neonatal thyroid physiology. In addition, advances in molecular biology have helped in understanding the early events in thyroid gland embryogenesis, mechanisms of thyroid action in the brain, the molecular basis for many of the inborn errors of thyroid hormonogenesis, and thyroid hormone action. However, many questions and challenges are still not answered. For example, the increasing numbers of surviving small and premature neonates with abnormalities in thyroid function need definite diagnostic criteria and whether they require medical therapy. Another challenge is the dilemma of finding the best screening methodology that is sensitive and cost effective. PMID:22570946

  10. 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

  11. Congenital Heart Information Network

    MedlinePlus

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

  12. Giant congenital nevus

    MedlinePlus

    ... A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. A congenital ... rare. Symptoms A nevus will appear as a dark-colored patch with any of the following: Brown ...

  13. Congenital heart disease

    MedlinePlus

    Congenital heart disease is a problem with the heart's structure and function that is present at birth. ... Congenital heart disease (CHD) can describe a number of different problems affecting the heart. It is the most common ...

  14. Adult Congenital Heart Association

    MedlinePlus

    ... to ACHA Search The futures of adults with congenital heart disease made brighter by their pasts Get Involved 2016 ... conference theme is "The Changing Landscape of Adult Congenital Heart Disease." Join Us Help us improve the quality of ...

  15. Congenital sternoclavicular dermoid sinus.

    PubMed

    Willaert, Annelore; Bruninx, Liesje; Hens, Greet; Hauben, Esther; Devriendt, Koen; Vander Poorten, Vincent

    2016-02-01

    We report a case series of 8 patients, presenting with a congenital sinus in the region of the sternoclavicular joint. This rare malformation has only been reported in the Japanese dermatological literature under the name of "congenital dermoid fistula of the anterior chest region". It has to be distinguished from other congenital anomalies and requires complete excision. PMID:26810293

  16. Congenital Intralabyrinthine Cholesteatoma

    PubMed Central

    Prasad, Sanjay; Prasad, Kiran; Azadarmaki, Roya

    2014-01-01

    A patient with a congenital intralabyrinthine cholesteatoma is presented. High-resolution computerized tomographic scans and intraoperative photomicrographs display features of intralabyrinthine extension. We discuss pathogenetic theories for the development of congenital intralabyrinthine cholesteatoma. The distinction of this condition from congenital cholesteatoma with labyrinthine erosion is discussed. PMID:25057421

  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. PMID:20224538

  18. Transcriptional control of IS1 transposition in Escherichia coli.

    PubMed

    Biel, S W; Adelt, G; Berg, D E

    1984-04-01

    The movement of the bacterial insertion sequence IS1 often generates cointegrate structures in which donor and target replicons are connected by direct repeats of IS1. The experiments reported here were designed to understand how IS1 transposition is controlled. Our physical characterization of the structures of cointegrates between an F factor ( pOX38 ) and a set of pBR322::Tn9-related plasmids indicate that the relative mobilities of the two IS1 elements of Tn9 are inversely correlated with the strength of promoters upstream in the vector DNA. This implies that transcription across the ends of an IS1 element inhibits its transposition. Transcriptional inhibition may be due to interference with either the synthesis or the action of transposase. PMID:6325710

  19. Transposition Pattern of the Maize Element Ds in Arabidopsis Thaliana

    PubMed Central

    Bancroft, I.; Dean, C.

    1993-01-01

    As part of establishing an efficient transposon tagging system in Arabidopsis using the maize elements Ac and Ds, we have analyzed the inheritance and pattern of Ds transposition in four independent Arabidopsis transformants. A low proportion (33%) of plants inheriting the marker used to monitor excision contained a transposed Ds. Selection for the transposed Ds increased this to at least 49%. Overall, 68% of Ds transpositions inherited with the excision marker were to genetically linked sites; however, the distribution of transposed elements varied around the different donor sites. Mapping of transposed Ds elements that were genetically unlinked to the donor site showed that a proportion (3 of 11 tested) integrated into sites which were still physically linked. PMID:8397137

  20. 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

  1. Congenital diaphragmatic hernia.

    PubMed

    Tovar, Juan A

    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

  2. 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. PMID:26280661

  3. Switch operation for transposition of the great arteries in neonates. A study of 120 patients.

    PubMed

    Planché, C; Bruniaux, J; Lacour-Gayet, F; Kachaner, J; Binet, J P; Sidi, D; Villain, E

    1988-09-01

    From March 1984 to January 1987, anatomic surgical correction was performed on 110 newborn infants (2 to 23 days old, mean 7.8 +/- 3.5, standard deviation) with simple transposition of the great arteries and 10 additional neonates (7 to 30 days old, mean 17.9 +/- 8.3, standard deviation) with transposition and a large ventricular septal defect. All had preoperative catheterization. Ninety-six percent of the patients underwent balloon atrial septostomy and 90% received prostaglandin E1 infusion until the time of the operation. The anatomy of the coronary arteries according to the Yacoub classification was as follows: type A, 82 patients; type B, 5 patients; type C, 4 patients; type D, 23 patients; and type E, 6 patients. Continuous hypothermic bypass with no circulatory arrest was used for all patients except two. Myocardial protection was ensured by crystalloid cardioplegia. Coronary artery relocation was performed according to the Yacoub technique with some modifications, and pulmonary artery reconstruction was done according to the Lecompte maneuver in all patients, even when the great vessels had a side-by-side relationship. The proximal pulmonary artery was reconstructed with two circular patches for the first 10 patients and with a single large posterior patch for the last 110 patients. Tanned heterologous pericardium was used for the first 25 patients and autologous native pericardium for the last 95 patients. The perioperative mortality rates were 8.3% for the entire series and 5.4% for the last 110 patients, with no deaths in the group having transposition plus ventricular septal defect. Late death from acute myocardial infarction occurred in two patients in the second month after operation. No patient was lost to follow-up, which ranged from 2 to 46 months (mean 16 +/- 11.2, standard deviation). The follow-up included sequential noninvasive evaluations and 32 catheterizations performed 10 to 18 months postoperatively. Two patients were reoperated on for

  4. Functional Assessment for Congenital Heart Disease

    PubMed Central

    2014-01-01

    Significant improvement in survival of children with congenital cardiac malformations has resulted in an increasing population of adolescent and adult patients with congenital heart disease. Of the long-term cardiac problems, ventricular dysfunction remains an important issue of concern. Despite corrective or palliative repair of congenital heart lesions, the right ventricle, which may be the subpulmonary or systemic ventricular chamber, and the functional single ventricle are particularly vulnerable to functional impairment. Regular assessment of cardiac function constitutes an important aspect in the long-term follow up of patients with congenital heart disease. Echocardiography remains the most useful imaging modality for longitudinal monitoring of cardiac function. Conventional echocardiographic assessment has focused primarily on quantification of changes in ventricular size and blood flow velocities during the cardiac cycles. Advances in echocardiographic technologies including tissue Doppler imaging and speckle tracking echocardiography have enabled direct interrogation of myocardial deformation. In this review, the issues of ventricular dysfunction in congenital heart disease, conventional echocardiographic and novel myocardial deformation imaging techniques, and clinical applications of these techniques in the functional assessment of congenital heart disease are discussed. PMID:24653734

  5. Congenital Scoliosis in Smith–Magenis Syndrome

    PubMed Central

    Li, Zheng; Shen, Jianxiong; Liang, Jinqian; Sheng, Lin

    2015-01-01

    Abstract The Smith–Magenis syndrome (SMS) is a complex and rare congenital condition that is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioral, and neurocognitive abnormalities, as well as variable multisystemic manifestations. Little is reported about spinal deformity associated with this syndrome. This study is to present a case of scoliosis occurring in the setting of SMS and explore the possible mechanisms between the 2 diseases. The patient is a 13-year-old Chinese female with congenital scoliosis and Tetralogy of Fallot, mental retardation, obstructive sleep apnea, hypertrophy of tonsil, conductive hearing loss, and agenesis of the epiglottis. An interphase fluorescent in situ hybridization at chromosome 17p11.2 revealed a heterozygous deletion, confirming a molecular diagnosis of SMS. She underwent a posterior correction at thoracic 1-lumbar 1 (T1-L1) levels, using the Moss-SI spinal system. At 6-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of correction. Congenital cardiac disease, immunodeficiency, and severe behavioral problems can affect the surgical outcome following spine fusion and need to be taken into consideration for the surgeon and anesthesiologist. Scoliosis is not uncommon among patients with SMS, and there is a potential association between congenital scoliosis and SMS. The potential mechanisms in the pathogenesis of congenital scoliosis of SMS included retinoic acid-induced 1 (RAI1) microdeletion and RAI1 gene point mutation. PMID:25929900

  6. Mediastinal transposition of the omentum reduces infection severity and pharmacy cost for patients undergoing esophagectomy

    PubMed Central

    Ye, Peng; Cao, Jin-Lin; Li, Qiu-Yuan; Wang, Zhi-Tian; Yang, Yun-Hai; Lv, Wang

    2016-01-01

    Background The greater omentum has been found to be immunologically competent in protecting abdominal organs from inflammation. Anastomotic omentoplasty has been used and proven effective in preventing anastomotic leaks after an esophagectomy. However, pulmonary complications are still a substantial problem after an esophagectomy. This study investigated the benefits of mediastinal transposition of the omentum, a modification of the conventional omental wrapping technique, in controlling overall postoperative intrathoracic complications. Methods From January 2010 to March 2015, 208 consecutive patients receiving an open Ivor-Lewis esophagectomy at our institution were retrospectively reviewed. One hundred twenty-one patients with omentum mediastinal transposition were assigned to the transposition group and 87 patients without omental transposition were placed in the non-transposition group. The patients’ demographics, postoperative short-term outcomes, and in-hospital cost were documented and analyzed. Results Mediastinal transposition of the omentum led to a shorter postoperative hospital stay (14 vs. 16 d, P=0.038) and a lower intrathoracic infection rate (30.6% vs. 48.3%, P=0.009). Intrathoracic infection was milder in the transposition group (P=0.005), though a non-significant was found in overall complications (P=0.071). The multivariate logistic regression analyses identified omentum mediastinal transposition (P=0.007, OR=0.415) as an independent protective factor for postoperative intrathoracic infection. The total in-hospital cost was comparable in both groups (P>0.05), whereas the pharmacy cost was lower in the transposition group than in the non-transposition group (¥21,668 vs. ¥27,012, P=0.010). Conclusions Mediastinal transposition of the omentum decreases the rate and severity of postoperative intrathoracic infection following an open Ivor-Lewis esophagectomy. This result in decreased pharmacy costs, rather than resulting in an increased economic

  7. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

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

  8. Atrial tachyarrhythmias after atrial switch operation for transposition of the great arteries: Treating old surgery with new catheters.

    PubMed

    Houck, Charlotte A; Teuwen, Christophe P; Bogers, Ad J J C; de Groot, Natasja M S

    2016-08-01

    The arterial switch operation has been the procedure of first choice for correction of transposition of the great arteries (TGA) for several decades now. However, a large number of adult patients with TGA nowadays were palliated previously by either a Mustard or a Senning procedure. Atrial tachyarrhythmias (ATs) are frequently observed during long-term follow-up of patients with TGA after these atrial switch corrections and are associated with both morbidity and mortality. Because of the complex postoperative anatomy in these patients, ablative therapy for these tachyarrhythmias can be challenging. The goals of this review are to discuss the most prevalent ATs in patients after the Mustard or Senning procedure and to summarize (long-term) outcomes of ablative therapy. In addition, recent developments in ablative therapy for ATs in this patient population are outlined. PMID:27018378

  9. Toward postnatal reversal of ocular congenital malformations

    PubMed Central

    Sahel, José-Alain; Marazova, Katia

    2013-01-01

    Aniridia is a panocular disorder that severely affects vision in early life. Most cases are caused by dominantly inherited mutations or deletions of the PAX6 gene, which encodes a transcription factor that is essential for the development of the eye and the central nervous system. In this issue of the JCI, Gregory-Evans and colleagues demonstrate that early postnatal topical administration of an ataluren-based formulation reverses congenital malformations in the postnatal mouse eye, providing evidence that manipulation of PAX6 after birth may lead to corrective tissue remodeling. These findings offer hope that ataluren administration could be a therapeutic paradigm applicable to some major congenital eye defects. PMID:24355915

  10. Congenital parotid fistula.

    PubMed

    Natasha, Shiggaon

    2014-01-01

    Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen's duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT) fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient. PMID:25231049

  11. Treatment of congenital malformations.

    PubMed

    Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith

    2011-03-01

    The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively. PMID:21437824

  12. Transposition of reversed Ac element ends generates chromosome rearrangements in maize.

    PubMed Central

    Zhang, Jianbo; Peterson, Thomas

    2004-01-01

    In classical "cut-and-paste" transposition, transposons are excised from donor sites and inserted at new locations. We have identified an alternative pathway in which transposition involves the 5' end of an intact Ac element and the 3' end of a nearby terminally deleted fAc (fractured Ac). The Ac and fAc elements are inserted at the maize p1 locus on chromosome 1s in the same orientation; the adjacent ends of the separate elements are thus in reversed orientation with respect to each other and are separated by a distance of approximately 13 kb. Transposition involving the two ends in reversed orientation generates inversions, deletions, and a novel type of local rearrangement. The rearrangement breakpoints are bounded by the characteristic footprint or target site duplications typical of Ac transposition reactions. These results demonstrate a new intramolecular transposition mechanism by which transposons can greatly impact genome evolution. PMID:15342530

  13. Transposition of the Hermes element in embryos of the vector mosquito, Aedes aegypti.

    PubMed

    Sarkar, A; Yardley, K; Atkinson, P W; James, A A; O'Brochta, D A

    1997-05-01

    Using a plasmid-based transpositional recombination assay in vivo, we have demonstrated that Hermes, a short inverted repeat type transposable element from Musca domestica, can transpose in Aedes aegypti embryos. Hermes transpositions in Ae. aegypti have all the characteristics observed during Hermes transposition in its host M. domestica and in related species. These characteristics include an absolute dependence on the expression of the Hermes transposase and a preference for the integration site GTNCAGAC (P < 0.05). In addition, the rate of Hermes transposition in Ae. aegypti (0.286 transpositions per 10,000 donor plasmids screened) was comparable to that observed in Drosophila melanogaster under similar conditions. These results suggest that Hermes can be developed into a gene vector and genetic engineering tool for Ae. aegypti and related mosquitoes. PMID:9219363

  14. Tracheoesophageal puncture site closure with sternocleidomastoid musculocutaneous transposition flap

    PubMed Central

    Jaiswal, Dushyant; Yadav, Prabha; Shankhdhar, Vinay Kant; Gujjalanavar, Rajendra Suresh; Puranik, Prashant

    2015-01-01

    Introduction: Tracheoesophageal voice prosthesis is highly effective in providing speech after total laryngectomy. Although it is a safe method, in certain cases dilatation or leakage occurs around the prosthesis that needs closure of tracheoesophageal fistula. Both non-surgical and surgical methods for closure have been described. Surgical methods are used when non-surgical methods fail. We present the use of the sternocleidomastoid musculocutaneous (SCMMC) transposition flap for the closure of tracheoesophageal fistula. Materials and Methods: An incision is made at the mucocutaneous junction circumferentially around the tracheostoma. Tracheoesophageal space is dissected down to and beyond the fistula. The tracheoesophageal tract is divided. The oesophageal mucosa is closed with simple sutures. Then SCMMC transposition flap is raised and transposed to cover sutured oesophagus and the defect between the oesophagus and the trachea. Results: This study was done prospectively over a period of 1 year from June 2012 to May 2013. This technique was used in patients with pliable neck skin. In nine patients, this procedure was done (inferior based flap in nine cases) and it was successful in eight patients. In one case, there was dehiscence at the leading edge of flap with oesophageal dehiscence, which required a second procedure. In two cases, there was marginal necrosis of flap, which healed without any intervention. Nine patients in this series were post-radiation. Conclusion: This method of closure is simple and effective for patients with pliable neck skin, who require permanent closure of the tracheoesophageal fistula. PMID:26933281

  15. 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. PMID:25317106

  16. Facts about Congenital Heart Defects

    MedlinePlus

    ... types of CHDs. The types marked with a star (*) are considered critical CHDs. Atrial Septal Defect Atrioventricular Septal Defect Coarctation of the Aorta * Double-outlet right ventricle* d-Transposition of the great ...

  17. Giant congenital nevus

    MedlinePlus

    A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. A congenital ... A nevus will appear as a dark-colored patch with any of the ... Hair Regular or uneven borders Smaller affected areas near the ...

  18. 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.

  19. Congenital CMV Infection

    MedlinePlus

    ... CMV Babies Born with CMV (Congenital CMV Infection) Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir ... Detection and Intervention Helping Children With Congenital CMV Language: English Español (Spanish) File Formats Help: How do I ...

  20. 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

  1. Caring for infants with congenital heart disease and their families.

    PubMed

    Saenz, R B; Beebe, D K; Triplett, L C

    1999-04-01

    Congenital heart defects are classified into two broad categories: acyanotic and cyanotic lesions. The most common acyanotic lesions are ventricular septal defect, atrial septal defect, atrioventricular canal, pulmonary stenosis, patent ductus arteriosus, aortic stenosis and coarctation of the aorta. Congestive heart failure is the primary concern in infants with acyanotic lesions. The most common cyanotic lesions are tetralogy of Fallot and transposition of the great arteries. In infants with cyanotic lesions, hypoxia is more of a problem than congestive heart failure. Suspicion of a congenital heart defect should be raised by the presence of feeding difficulties in association with tachypnea, sweating and subcostal recession, or severe growth impairment. Follow-up of infants with congenital heart disease should follow the schedule of routine care for healthy babies with some modifications, such as administration of influenza and pneumococcal vaccines. More frequent follow-up is required if congestive heart failure is present. Family psychosocial issues should also be addressed. One of the main roles for the family physician is to help the parents put the diagnosis in perspective by clarifying expectations and misconceptions, and answering specific questions. PMID:10208705

  2. Transposition of the retrotransposon MAGGY in heterologous species of filamentous fungi.

    PubMed Central

    Nakayashiki, H; Kiyotomi, K; Tosa, Y; Mayama, S

    1999-01-01

    MAGGY is a gypsy-like LTR retrotransposon isolated from the blast fungus Pyricularia grisea (teleomorph, Magnaporthe grisea). We examined transposition of MAGGY in three P. grisea isolates (wheat, finger millet, and crabgrass pathogen), which did not originally possess a MAGGY element, and in two heterologous species of filamentous fungi, Colletotrichum lagenarium and P. zingiberi. Genomic Southern analysis of MAGGY transformants suggested that transposition of MAGGY occurred in all filamentous fungi tested. In contrast, no transposition was observed in any transformants with a modified MAGGY containing a 513-bp deletion in the reverse transcriptase domain. When a MAGGY derivative carrying an artificial intron was introduced into the wheat isolate of P. grisea and C. lagenarium, loss of the intron was observed. These results showed that MAGGY can undergo autonomous RNA-mediated transposition in heterologous filamentous fungi. The frequency of transposition differed among fungal species. MAGGY transposed actively in the wheat isolate of P. grisea and P. zingiberi, but transposition in C. lagenarium appeared to be rare. This is the first report that demonstrates active transposition of a fungal transposable element in heterologous hosts. Possible usage of MAGGY as a genetic tagging tool in filamentous fungi is discussed. PMID:10511549

  3. 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

  4. Congenital myasthenia gravis.

    PubMed

    Nizamani, Noor Bakht; Talpur, Khalid Iqbal; Memon, Mariya Nazish

    2013-07-01

    Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test, acetylcholine receptor antibody test, trial of steroids and finally neostigmine test which confirmed the diagnosis. This case illustrates the challenges in diagnosing congenital myasthenia gravis and highlights the potential benefits of neostigmine test in its diagnosis. PMID:23823963

  5. Left renal vein transposition is effective for posterior nutcracker syndrome.

    PubMed

    Chen, Yuedong; Xing, Jinchun; Liu, Fei

    2014-01-01

    An 8-year-old girl was enrolled in hospital with intermittent gross hematuria in a period of 3 years. Bloody efflux from the left ureteral orifice was diagnosed in this patient with urethrocystoscopy. A retroaortic left renal vein appeared to be compressed by the aorta as detected by computerized tomography. The left renal vein was compressed between the aorta and the spine. A groove in the anterior surface of the left renal vein was detected. A transposition surgery of the left renal vein to a site in front of the aorta was performed for the patient. The patient was discharged after recovery and the hematuria symptom was not found during the 15-month follow-up investigation. PMID:25664135

  6. Ensemble predictions of runoff using hydrograph transpositions to ungauged basins

    NASA Astrophysics Data System (ADS)

    de Lavenne, Alban; Cudennec, Christophe

    2014-05-01

    Regionalisation is one common approach for modelling streamflow in ungauged basins. It is sometimes performed on the basis of ensemble modelling and model averaging through the play of parameters of rainfall-runoff models. We propose an original approach for ensemble modelling by transposing physically based time series rather than model's parameters. We applied the approach on 6 sub-basins of the Blavet river in Brittany (France) with area varying from 5 km² to 316 km². Inside this sample of gauged basins, the water provided by hillslopes to the network at a basin scale, called the net rainfall, is assessed by inverting their simple geomorphology based network transfer function. Those net rainfall time series, estimated at an hourly time step on each gauged basin separately, summarise the hydrological behaviour of their hillslopes without the need of any complex modelling. Moreover, it has the advantage of being relatively scale independent which enables its transposition among basins. Once this net rainfall is transposed to an ungauged basin, it is reconvoluted using its own transfer function in order to estimate the hydrograph therein. We propose to combine several gauged basins to perform ensemble modelling prediction. This ensemble modelling provides an indication of uncertainty. Although it is not a robust estimate of the possible flow range, it informs about the variability of basins behaviour inside the studied region and, as a consequence, the relative confidence in those transpositions of hydrograph. By selecting donor basins according to their similarity to the ungauged one, we aim to improve prediction accuracy, reduce uncertainty and check the best way to define hydrological similarity for the choice of the donor basin. It is demonstrated that spatial proximity provides a relatively robust estimate of the best donor basin, and giving more importance to similar basins does not necessarily lead to higher accuracy in simulations compared to a simple net

  7. 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

  8. Anterior transposition vs anterior and nasal transposition of inferior oblique muscle in treatment of dissociated vertical deviation associated with inferior oblique overaction.

    PubMed

    Farid, M F

    2016-04-01

    PurposeTo compare results of two surgical techniques; anteriorization (ATIO) vs anterior nasalization (ANT) of IO muscle in management of DVD associated with IOOA.MethodsTwenty-one patients with DVD associated with IOOA were included in this study. Group A consists of 11 patients who underwent ATIO and group B with 10 patients who underwent anterior transposition of IO to the nasal border of inferior rectus ANT. All patients were followed for at least 6 months postoperatively. The primary outcome variables were changes in DVD in primary position and side gazes, IO action and V pattern.ResultsThe average of correction of DVD in primary position, in adduction and in abduction was 10.63 PD, 24.6 PD (P<0.001) and 0.45 PD5 (P>0.05) in ATIO group and 14.6 PD, 25.2 PD and 1.7 PD (P<0.001) in ANT group respectively. Mean IOOA decreased from +2.0±0.7 to +0.18±0.4 in group A (P<0.001) and from +2.5±0.7 to +0.1±0.5 (P<0.001) in group B. Mean V pattern was corrected from 19.18±7.1 PD to 11.18±4.9 PD (P<0.01) in group A and from 17.8±7.9 PD to 6.0±2.49 PD (P<0.001) in group B. In group B, two patients developed hypotropia of 2 and 4 PD and one patient developed consecutive exotropia.ConclusionsIn DVD associated with IOOA, both surgical techniques are almost similar in alleviating true hypertropia in side gaze, IOOA, and V pattern. ANT gives more statistically significant DVD correction in primary position and in abduction while in adduction; there is no significant difference between both groups. However, ANT may induce hypotropia and consecutive horizontal strabismus. PMID:26742868

  9. Adult Congenital Heart Association

    MedlinePlus

    ... survivable, manageable, yet in the routine years between infancy and adulthood, sometimes forgettable. The Adult Congenital Heart ... understand the continuum of the disease from its infancy. The Adult Congential Heart Association brings together valuable ...

  10. 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 ...

  11. Congenital heart disease

    MedlinePlus

    ... about genetic counseling and screening if you have a family history of cogenital heart disease. ... Fraser CD, Carberry KE. Congenital heart disease. In: Townsend CM ... Textbook of Cardiovascular Medicine . 10th ed. Philadelphia, PA: ...

  12. Relationship of white matter network topology and cognitive outcome in adolescents with d-transposition of the great arteries.

    PubMed

    Panigrahy, Ashok; Schmithorst, Vincent J; Wisnowski, Jessica L; Watson, Christopher G; Bellinger, David C; Newburger, Jane W; Rivkin, Michael J

    2015-01-01

    Patients with congenital heart disease (CHD) are at risk for neurocognitive impairments. Little is known about the impact of CHD on the organization of large-scale brain networks. We applied graph analysis techniques to diffusion tensor imaging (DTI) data obtained from 49 adolescents with dextro-transposition of the great arteries (d-TGA) repaired with the arterial switch operation in early infancy and 29 healthy referent adolescents. We examined whether differences in neurocognitive functioning were related to white matter network topology. We developed mediation models revealing the respective contributions of peri-operative variables and network topology on cognitive outcome. Adolescents with d-TGA had reduced global efficiency at a trend level (p = 0.061), increased modularity (p = 0.012), and increased small-worldness (p = 0.026) as compared to controls. Moreover, these network properties mediated neurocognitive differences between the d-TGA and referent adolescents across every domain assessed. Finally, structural network topology mediated the neuroprotective effect of longer duration of core cooling during reparative neonatal cardiac surgery, as well as the detrimental effects of prolonged hospitalization. Taken together, worse neurocognitive function in adolescents with d-TGA is mediated by global differences in white matter network topology, suggesting that disruption of this configuration of large-scale networks drives neurocognitive dysfunction. These data provide new insights into the interplay between perioperative factors, brain organization, and cognition in patients with complex CHD. PMID:25685710

  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. IS231A from Bacillus thuringiensis is functional in Escherichia coli: transposition and insertion specificity.

    PubMed Central

    Hallet, B; Rezsöhazy, R; Delcour, J

    1991-01-01

    A kanamycin resistance gene was introduced within the insertion sequence IS231A from Bacillus thuringiensis, and transposition of the element was demonstrated in Escherichia coli. DNA sequencing at the target sites showed that IS231A transposition results in direct repeats of variable lengths (10, 11, and 12 bp). These target sequences resemble the terminal inverted repeats of the transposon Tn4430, which are the preferred natural insertion sites of IS231 in B. thuringiensis. Images PMID:1648561

  15. Preservation of ovarian function by ovarian transposition performed before pelvic irradiation during childhood.

    PubMed

    Thibaud, E; Ramirez, M; Brauner, R; Flamant, F; Zucker, J M; Fékété, C; Rappaport, R

    1992-12-01

    Ovarian transposition in adults has been shown to protect ovarian function in about 60% of cases by reducing ovarian exposure to less than 4 to 7 Gy. We therefore evaluated the effect of ovarian transposition during childhood or adolescence. Eighteen girls had ovarian transposition performed at a mean (+/- SEM) age of 9.4 +/- 1.2 years (range, 1.2 to 16 years). Twelve were prepubertal and six had menstruated at the time of ovarian transposition. The initial abnormalities were Hodgkin disease (5 cases), iliac Ewing sarcoma (3), medulloblastoma (2), ovarian seminoma (1), and vaginal or uterine tumor (7). The irradiation was external in 11 cases and local by vaginal curietherapy in 7 cases. Fifteen girls received chemotherapy. The ovarian transposition was bilateral in 15 patients and unilateral in 3 cases; in the latter the other ovary had been destroyed by the tumor or by abdominal irradiation. Ovaries were placed just below the iliac crest (15 cases) or posterolateral to the uterus (3); thus, the calculated ovarian radiation dose was up to 9.5 Gy. At the time of evaluation (8.6 +/- 0.9 years after ovarian transposition), 16 girls had menstruated and 2 remained amenorrheic because of major lesions of the vagina and uterus caused by the vaginal curietherapy. Basal plasma gonadotropin values were normal. Ovulation was documented in seven cases. Two pregnancies occurred. Complications of ovarian transposition were present in four patients: intestinal occlusion, dyspareunia, functional ovarian cysts, and pelvic adhesions with tubal obstruction. We conclude that ovarian transposition, performed before abdominopelvic irradiation during childhood, can preserve ovarian function. Longer follow-up is required to assess the risk of ovarian dystrophy because of vascular lesions or chemotherapy. PMID:1447649

  16. Subcutaneous vs Submuscular Ulnar Nerve Transposition in Moderate Cubital Tunnel Syndrome

    PubMed Central

    Jaddue, Dhia A.K; Saloo, Salwan A; Sayed-Noor, Arkan S

    2009-01-01

    Background: The surgical treatment of Cubital tunnel syndrome (CubTS) is still a matter of debate. No consensus exists about the necessity of anterior transposition of the ulnar nerve after decompression. However, this technique is fairly common in clinical practice. Material and Methodology: In the present study we compared the operative technique (incision length, operative time), postoperative care (postoperative pain and complications) and the outcome between subcutaneous transposition and submuscular transposition of the ulnar nerve as two surgical modalities in treating moderate CubTS. Between March 2004 and March 2007, twenty six patients with moderate CubTS (according to Dellon’s grading system) were stratified according to age and gender into these two surgical techniques. The two groups were prospectively followed up 2 weeks, 6 months and 12 months postoperatively by the same observer and the operation outcome was assessed using the Bishop rating system. Results: We found that the subcutaneous transposition of the ulnar nerve was associated with shorter incision, shorter operative time, less postoperative pain, less postoperative complication and better outcome compared with the submuscular transposition. Conclusion: The authors recommend the subcutaneous technique when considering anterior transposition of the ulnar nerve in treating moderate CubTS. PMID:19746170

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

    PubMed

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

    2015-11-01

    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

  18. Transposition of a Rice Mutator-Like Element in the Yeast Saccharomyces cerevisiae

    PubMed Central

    Ferguson, Ann

    2015-01-01

    Mutator-like transposable elements (MULEs) are widespread in plants and are well known for their high transposition activity as well as their ability to duplicate and amplify host gene fragments. Despite their abundance and importance, few active MULEs have been identified. In this study, we demonstrated that a rice (Oryza sativa) MULE, Os3378, is capable of excising and reinserting in yeast (Saccharomyces cerevisiae), suggesting that yeast harbors all the host factors for the transposition of MULEs. The transposition activity induced by the wild-type transposase is low but can be altered by modification of the transposase sequence, including deletion, fusion, and substitution. Particularly, fusion of a fluorescent protein to the transposase enhanced the transposition activity, representing another approach to manipulate transposases. Moreover, we identified a critical region in the transposase where the net charge of the amino acids seems to be important for activity. Finally, transposition efficiency is also influenced by the element and its flanking sequences (i.e., small elements are more competent than their large counterparts). Perfect target site duplication is favorable, but not required, for precise excision. In addition to the potential application in functional genomics, this study provides the foundation for further studies of the transposition mechanism of MULEs. PMID:25587002

  19. [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

  20. An intramural left main coronary artery with a left sinus of valsalva aneurysm: a unique combination of congenital anomalies.

    PubMed

    Altarabsheh, Salah Eldien; Deo, Salil V; Spitell, Peter; Araoz, Philip; Park, Soon J

    2013-02-01

    The congenital anomaly of an intramural left main coronary artery arising in the anatomically correct aortic sinus is very infrequent. Aneurysms involving the sinus of Valsalva rarely arise from the left aortic sinus. We present the clinical features and surgical correction of this rare anomaly along with a short discussion of these congenital malformations. PMID:23439356

  1. 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. PMID:27043388

  2. Congenital long QT syndrome

    PubMed Central

    Crotti, Lia; Celano, Giuseppe; Dagradi, Federica; Schwartz, Peter J

    2008-01-01

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

  3. Adults with Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Web Booklet: Adults With Congenital Heart Defects Updated:Apr ... topic from the list below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: ...

  4. Impact of Congenital Heart Defects

    MedlinePlus

    ... complex lesions, limitations are common. Some children with congenital heart disease have developmental delay or other learning difficulties. What ... defects? Successful treatment requires highly specialized care. Severe congenital heart disease requires extensive financial resources both in and out ...

  5. Analysis of a digital technique for frequency transposition of speech

    NASA Astrophysics Data System (ADS)

    Digirolamo, V.

    1985-09-01

    Frequency transposition is the process of raising or lowering the frequency content (pitch) of an audio signal. The hearing impaired community has the greatest interest in the applications of frequency transposing. Though several analog and digital frequency transposing hearing aid systems have been built and tested, this thesis investigates a possible digital processing alternative. Pole shifting, in the z-domain, of an autoregressive (all pole) model of speech was proven to be a viable theory for changing frequency content. Since linear predictive coding (LPC) techniques are used to code, analyze and synthesize speech, with the resulting LPC coefficients related to the coefficients of an equivalent autoregressive model, a linear relationship between LPC coefficients and frequency tranposition is explored. This theoretical relationship is first established using a pure sine wave and then is extended into processing speech. The resulting speech synthesis experiments failed to substantiate the conjectures of this thesis. However, future research avenues are suggested that may lead toward a viable approach to transpose speech.

  6. 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.

  7. 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.

  8. 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. PMID:27401272

  9. 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

  10. Congenital midline nasofrontal masses.

    PubMed

    Saettele, Megan; Alexander, Alan; Markovich, Brian; Morelli, John; Lowe, Lisa H

    2012-09-01

    Congenital midline nasal masses are uncommon anomalies including nasal dermoids/epidermoids, nasal glial heterotopias and encephaloceles. These lesions can occur at the nasal bridge, extend intranasally and have intracranial extension with communication to the subarachnoid space. Therefore, accurate diagnosis of these lesions is critically important for presurgical planning and prevention of potentially fatal complications. Neuroimaging is essential in the evaluation of congenital midline nasal masses to identify the specific type of lesion, evaluate for the presence of intracranial extension and allow for appropriate presurgical planning. PMID:22648391

  11. Congenital hyperinsulinism with hyperammonaemia

    PubMed Central

    Pschibul, Alex; Müller, Jörg; Fahnenstich, Hubert

    2010-01-01

    Congenital hyperinsulinism is considered to be the most frequent cause of persistent recurrent hypoglycaemia in infants. The clinical presentation and response to pharmacological treatment may vary significantly depending on the underlying pathology. We report a case of a female infant with mild but early onset of recurrent hypoglycaemia. Metabolic workup revealed hyperinsulinism combined with mild hyperammonaemia as well as elevation of α-ketoglutarate in urine. Genetic testing demonstrated a de novo mutation in exon 7 of the glutamate dehydrogenase gene on chromosome 10. Episodes of hypoglycaemia responded to treatment with diazoxide. The differential diagnosis, pathophysiology and treatment of congenital hyperinsulinism is discussed. PMID:22315648

  12. 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

  13. Congenital muscular torticollis.

    PubMed

    Nilesh, Kumar; Mukherji, Srijon

    2013-07-01

    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

  14. Involvement of H-NS in Transpositional Recombination Mediated by IS1

    PubMed Central

    Shiga, Yasuyuki; Sekine, Yasuhiko; Kano, Yasunobu; Ohtsubo, Eiichi

    2001-01-01

    IS1, the smallest active transposable element in bacteria, encodes a transposase that promotes inter- and intramolecular transposition. Host-encoded factors, e.g., histone-like proteins HU and integration host factor (IHF), are involved in the transposition reactions of some bacterial transposable elements. Host factors involved in the IS1 transposition reaction, however, are not known. We show that a plasmid with an IS1 derivative that efficiently produces transposase did not generate miniplasmids, the products of intramolecular transposition, in mutants deficient in a nucleoid-associated DNA-binding protein, H-NS, but did generate them in mutants deficient in histone-like proteins HU, IHF, Fis, and StpA. Nor did IS1 transpose intermolecularly to the target plasmid in the H-NS-deficient mutant. The hns mutation did not affect transcription from the indigenous promoter of IS1 for the expression of the transposase gene. These findings show that transpositional recombination mediated by IS1 requires H-NS but does not require the HU, IHF, Fis, or StpA protein in vivo. Gel retardation assays of restriction fragments of IS1-carrying plasmid DNA showed that no sites were bound preferentially by H-NS within the IS1 sequence. The central domain of H-NS, which is involved in dimerization and/or oligomerization of the H-NS protein, was important for the intramolecular transposition of IS1, but the N- and C-terminal domains, which are involved in the repression of certain genes and DNA binding, respectively, were not. The SOS response induced by the IS1 transposase was absent in the H-NS-deficient mutant strain but was present in the wild-type strain. We discuss the possibility that H-NS promotes the formation of an active IS1 DNA-transposase complex in which the IS1 ends are cleaved to initiate transpositional recombination through interaction with IS1 transposase. PMID:11274106

  15. Congenital diaphragmatic hernia in the older child.

    PubMed Central

    Booker, P D; Meerstadt, P W; Bush, G H

    1981-01-01

    Five children aged between 9 months and 7 years were admitted to hospital each with an unsuspected congenital diaphragmatic hernia. In 4 the diagnosis was pneumonia with a secondary pleural effusion or lung abscess. Initial investigations were unhelpful to the admitting physician; two of the children had had a previous chest x-ray which was normal. For 3 children the correct diagnosis was only made at necropsy. It is suggested that the possibility of a congenital diaphragmatic hernia be considered in any patient who has an indefinable diaphragm and cystic lesion on his chest x-ray film. Barium studies with the patient in Trendelenburg's position are of value in excluding the presence of bowel in the chest. Images Fig. 1 Fig. 2 PMID:7247437

  16. The congenital cranial dysinnervation disorders.

    PubMed

    Gutowski, N J; Chilton, J K

    2015-07-01

    Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. PMID:25633065

  17. Imaging of congenital pulmonary malformations.

    PubMed

    Praticò, Francesco Emanuele; Corrado, Michele; Della Casa, Giovanni; Parziale, Raffaele; Russo, Giuseppe; Gazzani, Silvia Eleonora; Rossi, Enrica; Borgia, Daniele; Mostardi, Maurizio; Bacchini, Emanuele; Cella, Simone; De Filippo, Massimo

    2016-01-01

    Congenital pulmonary malformations represent a broad spectrum of anomalies that may result in varied clinical and pathologic pictures, ranging from recurrent pulmonary infections and acute respiratory distress syndrome, which require timely drug therapy, up to large space-occupying lesions needing surgical treatment. This classification includes three distinct anatomical and pathological entities, represented by Congenital Cystic Adenomatoid Malformation, Bronchopulmonary Sequestration and Congenital Lobar Emphysema. The final result in terms of embryological and fetal development of these alterations is a Congenital Lung Hypoplasia. Since even Bronchial Atresia, Pulmonary Bronchogenic Cysts and Congenital Diaphragmatic Hernias are due to Pulmonary Hypoplasia, these diseases will be discussed in this review (1, 2). PMID:27467867

  18. 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 ...

  19. Congenital alopecia universalis.

    PubMed

    Saraswat, P K; Laha, N N

    1989-09-01

    A case of congenital alopecia universalis without any other ectodermal defect and mental abnormality is described in a girl of eight years. There was no family history in any of the members. The child was born of a non-consanguineous marriage. PMID:2632563

  20. OPERATION FOR CONGENITAL CATARACT

    PubMed Central

    Barkan, Otto

    1949-01-01

    The traditional treatment of needling or discission of congenital cataract or membrane is open to many serious objections. Removal of the cataract by a modified form of linear extraction is recommended. The technique, with recent improvements which further assure extraction without hazard in early infancy, is described. PMID:18125222

  1. Congenital Midline Cervical Cleft

    PubMed Central

    Villanueva-Meyer, Javier; Glastonbury, Christine; Marcovici, Peter

    2015-01-01

    Congenital midline cervical cleft is a rare anomaly that typically presents in the neonatal period as a thin suprasternal vertical band of erythematous skin with a nipple-like projection superiorly, which may exude fluid. We present the clinical and pathophysiologic features and the imaging findings of this uncommon, and rarely described entity in a newborn girl. PMID:25926928

  2. 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

  3. Characterization of Sleeping Beauty Transposition and Its Application to Genetic Screening in Mice

    PubMed Central

    Horie, Kyoji; Yusa, Kosuke; Yae, Kojiro; Odajima, Junko; Fischer, Sylvia E. J.; Keng, Vincent W.; Hayakawa, Tomoko; Mizuno, Sumi; Kondoh, Gen; Ijiri, Takashi; Matsuda, Yoichi; Plasterk, Ronald H. A.; Takeda, Junji

    2003-01-01

    The use of mutant mice plays a pivotal role in determining the function of genes, and the recently reported germ line transposition of the Sleeping Beauty (SB) transposon would provide a novel system to facilitate this approach. In this study, we characterized SB transposition in the mouse germ line and assessed its potential for generating mutant mice. Transposition sites not only were clustered within 3 Mb near the donor site but also were widely distributed outside this cluster, indicating that the SB transposon can be utilized for both region-specific and genome-wide mutagenesis. The complexity of transposition sites in the germ line was high enough for large-scale generation of mutant mice. Based on these initial results, we conducted germ line mutagenesis by using a gene trap scheme, and the use of a green fluorescent protein reporter made it possible to select for mutant mice rapidly and noninvasively. Interestingly, mice with mutations in the same gene, each with a different insertion site, were obtained by local transposition events, demonstrating the feasibility of the SB transposon system for region-specific mutagenesis. Our results indicate that the SB transposon system has unique features that complement other mutagenesis approaches. PMID:14645530

  4. DNA sequences at the ends of the genome of bacteriophage Mu essential for transposition.

    PubMed Central

    Groenen, M A; Timmers, E; van de Putte, P

    1985-01-01

    We have determined the minimal DNA sequences at the ends of the genome of bacteriophage Mu that are required for its transposition. A mini-Mu was constructed on a multicopy plasmid that enabled the manipulation of the DNA sequences at its ends without affecting the genes essential for transposition. The genes A and B, which were cloned outside the ends of the mini-Mu on the same plasmid, were both needed for optimal transposition. In our experimental system the predominant end products of the transposition are cointegrates both in the presence and in the absence of B. Two regions ending approximately 25 and 160 bp from the left end and one ending approximately 50 bp from the right end appear to be essential for optimal transposition. Overlapping with these regions, a 22-base-pair sequence was recognized with the consensus Y-G-T-T-C-A-Y-T-N-N-A-A-R-Y-R-C-G-A-A-A-A, where Y and R represent any pyrimidine and purine, respectively. At the left end these sequences occur as direct repeats; at the right end this sequence is inverted with respect to those at the left end. PMID:2984681

  5. Simple and efficient generation in vitro of nested deletions and inversions: Tn5 intramolecular transposition.

    PubMed Central

    York, D; Welch, K; Goryshin, I Y; Reznikoff, W S

    1998-01-01

    We have exploited the intramolecular transposition preference of the Tn 5 in vitro transposition system to test its effectiveness as a tool for generation of nested families of deletions and inversions. A synthetic transposon was constructed containing an ori, an ampicillin resistance (Ampr) gene, a multi-cloning site (MCS) and two hyperactive end sequences. The donor DNA that adjoins the transposon contains a kanamycin resistance (Kanr) gene. Any Amprreplicating plasmid that has undergone a transposition event (Kans) will be targeted primarily to any insert in the MCS. Two different size targets were tested in the in vitro system. Synthetic transposon plasmids containing either target were incubated in the presence of purified transposase (Tnp) protein and transformed. Transposition frequencies (Ampr/Kans) for both targets were found to be 30-50%, of which >95% occur within the target sequence, in an apparently random manner. By a conservative estimate 10(5) or more deletions/inversions within a given segment of DNA can be expected from a single one-step 20 microl transposition reaction. These nested deletions can be used for structure-function analysis of proteins and for sequence analysis. The inversions provide nested sequencing templates of the opposite strand from the deletions. PMID:9518484

  6. Interdisciplinary Approach for Management of Congenitally Missing Maxillary Lateral Incisors: A Case Report.

    PubMed

    Agrawal, Aseemkumar; Jain, Nimit; Jose, Nidhin Philip; Shetty, Siddarth

    2015-01-01

    Maxillary lateral incisors are frequently found congenitally missing, and their replacement has to be done prosthodontically. However, there are a variety of treatment options; a justified solution after orthodontic correction is the use of Maryland Bridges. Following is a case report of congenitally missing maxillary lateral incisors and an impacted canine and their orthodontic correction followed by prosthetic replacement of the lateral incisors using Maryland bridges. PMID:27029086

  7. Primary brachial vein transposition for hemodialysis access: report of a case and review of the literature.

    PubMed

    Lambidis, Constantinos; Galanopoulos, Georgios

    2013-07-01

    The superiority of autogenous fistulae in patients with end-stage renal disease, performing hemodialysis, is well established and largely accepted. However, in case that superficial veins in the upper arm are not available for fistula construction, brachial vein transposition may be a viable alternative prior to graft placement. This transposition could be done as a primary or staged procedure, depending on the vein size. We present the case of a 63-year-old male patient with a thrombosed arteriovenous graft in the forearm and a large brachial vein in the ipsilateral upper arm. A one-stage (primary) brachial vein transposition was performed. The fistula, 10 months after its construction, is still patent. No complications have occurred. PMID:23134151

  8. 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

  9. [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. PMID:11785284

  10. Percutaneous valvulotomy as an alternative to transposition of a brachiocephalic fistula.

    PubMed

    Hull, Jeffrey E; Makhoul, Raymond G; Snyder, James F

    2014-01-01

    Transposition of a deep (9-12 mm) autogenous brachiocephalic vein fistula was required for adequate hemodialysis access in a morbidly obese patient. The patient was a poor candidate for surgical transposition of the upper-arm cephalic vein. As an alternative, retrograde fistula flow was established percutaneously through a 6-F sheath in the forearm cephalic vein with the over-the-wire LeMaitre valvulotome. The retrograde flow in the forearm added 7 cm of superficial vein 6.2-9 mm in diameter with a flow rate of 940-2,868 mL/min, eliminating the need for surgical transposition. The percutaneous technique and required anatomy are described. PMID:24365509