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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

    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

  3. 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

  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. 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.

  8. 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

  9. 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

  10. 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

  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 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

  18. 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 ...

  19. 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 ...

  20. 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. ...

  1. 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.

  2. 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 ...

  3. 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; ...

  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. 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

  9. 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

  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 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…

  16. 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

  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. 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 ...

  12. 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 ...

  13. 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 ...

  14. 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 © ...

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  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. 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

  12. 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

  13. 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

  14. 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

  15. 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

  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 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 ...

  19. 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.

  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. 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

  5. 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

  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. 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: ...

  10. 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 ...

  11. 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 ...

  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. 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

  17. 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

  18. 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

  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. 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.

  4. 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.

  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. 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: ...

  7. 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 ...

  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. 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

  10. 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

  11. 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

  12. 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

  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. 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

  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. 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

  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. 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

  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 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 ...

  2. 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

  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. [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

  8. 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

  9. 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

  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

  11. cis and trans factors affecting Mos1 mariner evolution and transposition in vitro, and its potential for functional genomics.

    PubMed

    Tosi, L R; Beverley, S M

    2000-02-01

    Mos1 and other mariner / Tc1 transposons move horizon-tally during evolution, and when transplanted into heterologous species can transpose in organisms ranging from prokaryotes to protozoans and vertebrates. To further develop the Drosophila Mos1 mariner system as a genetic tool and to probe mechanisms affecting the regulation of transposition activity, we developed an in vitro system for Mos1 transposition using purified transposase and selectable Mos1 derivatives. Transposition frequencies of nearly 10(-3)/target DNA molecule were obtained, and insertions occurred at TA dinucleotides with little other sequence specificity. Mos1 elements containing only the 28 bp terminal inverted repeats were inactive in vitro, while elements containing a few additional internal bases were fully active, establishing the minimal cis -acting requirements for transposition. With increasing transposase the transposition frequency increased to a plateau value, in contrast to the predictions of the protein over-expression inhibition model and to that found recently with a reconstructed Himar1 transposase. This difference between the 'natural' Mos1 and 'reconstructed' Himar1 transposases suggests an evolutionary path for down-regulation of mariner transposition following its introduction into a naïve population. The establishment of the cis and trans requirements for optimal mariner transposition in vitro provides key data for the creation of vectors for in vitro mutagenesis, and will facilitate the development of in vivo systems for mariner transposition. PMID:10637331

  12. Clinical application of sartorius tendon transposition during radical vulvectomy: a case control study of 58 cases at a single institution

    PubMed Central

    Kou, Xinxin; Feng, Xiaojie; Liu, Fenghua; Chao, Hongtu; Wang, Liying

    2015-01-01

    Objective The aim of this study was to investigate the clinical effects of sartorius tendon transposition versus sartorius transposition during bilateral inguinal lymphadenectomy of radical vulvectomy. Methods A total of 58 vulvar cancer patients who had surgery from May 2007 to October 2013, in which 30 patients received sartorius transposition and 28 patients received sartorius tendon transposition. All patients were matched by age, body mass index, stage, histology, and grade. Intraoperative variables and postoperative complications, recurrence, progression-free survival (PFS), and overall survival (OS) and postoperative life quality were compared and analyzed. Results No significant differences were found at median surgical times and amounts of bleeding (p=0.316 and p=0.249, respectively), neither at the incidences of groin cellulitis and lymphocele (p=0.673 and p=0.473, respectively), but the recovery times of the inguinal wounds were shorter (p=0.026) and the incidences of wound break and chronic lymphedema were significantly decreased in the tendon transposition group (p=0.012 and p=0.022, respectively). Postoperative quality of life in tendon transposition group was significantly improved as indicated by the EORTC QLQ-C30 questionnaire. Recurrences were similar (p=0.346) and no significant differences were found at PFS and OS (p=0.990 and p=0.683, respectively). Conclusion Compared to sartorius transposition, sartorius tendon transposition during inguinal lymphadenectomy led to improved patient recovery, reduced postoperative complications, and improved life quality without compromising the outcomes. PMID:26404124

  13. Congenital Vertical Talus: Etiology and Management.

    PubMed

    Miller, Mark; Dobbs, Matthew B

    2015-10-01

    Congenital vertical talus is a rare foot deformity. If left untreated, it causes significant disability, including pain and functional limitations. Although the etiology of vertical talus is likely heterogeneous, recent evidence strongly supports a genetic cause linking it to genes expressed during early limb development. Traditional management for vertical talus involves extensive surgeries that are associated with significant short- and long-term complications. A minimally invasive approach that relies on serial manipulation and casting to achieve most of the correction has been shown to produce excellent short-term results with regard to clinical and radiographic correction in both isolated and nonisolated cases of vertical talus. Although long-term studies are needed, achieving correction without extensive surgery may lead to more flexible and functional feet, much as Ponseti method has done for clubfeet. PMID:26337950

  14. Anesthesia for sickle cell disease and congenital myopathy in combination.

    PubMed

    Fanning, Rebecca; O'Donnell, Brian; Lynch, Brian; Stephens, Michael; O'Donovan, Frances

    2006-08-01

    We report on the perioperative management of anesthesia and analgesia in a child with sickle cell disease and a congenital myopathy, presenting for corrective orthopedic surgery. The case illustrates two valuable points of interest: the many benefits of regional anesthesia in complex medical cases and the successful use of tourniquets in children with sickle cell disease. PMID:16884472

  15. Expression of Drosophila virilis retroelements and role of small RNAs in their intrastrain transposition.

    PubMed

    Rozhkov, Nikolay V; Zelentsova, Elena S; Shostak, Natalia G; Evgen'ev, Michael B

    2011-01-01

    Transposition of two retroelements (Ulysses and Penelope) mobilized in the course of hybrid dysgenesis in Drosophila virilis has been investigated by in situ hybridization on polytene chromosomes in two D. virilis strains of different cytotypes routinely used to get dysgenic progeny. The analysis has been repeatedly performed over the last two decades, and has revealed transpositions of Penelope in one of the strains, while, in the other strain, the LTR-containing element Ulysses was found to be transpositionally active. The gypsy retroelement, which has been previously shown to be transpositionally inactive in D. virilis strains, was also included in the analysis. Whole mount is situ hybridization with the ovaries revealed different subcellular distribution of the transposable elements transcripts in the strains studied. Ulysses transpositions occur only in the strain where antisense piRNAs homologous to this TE are virtually absent and the ping-pong amplification loop apparently does not take place. On the other hand small RNAs homologous to Penelope found in the other strain, belong predominantly to the siRNA category (21nt), and consist of sense and antisense species observed in approximately equal proportion. The number of Penelope copies in the latter strain has significantly increased during the last decades, probably because Penelope-derived siRNAs are not maternally inherited, while the low level of Penelope-piRNAs, which are faithfully transmitted from mother to the embryo, is not sufficient to silence this element completely. Therefore, we speculate that intrastrain transposition of the three retroelements studied is controlled predominantly at the post-transcriptional level. PMID:21779346

  16. New Approaches to Rainfall and Flood Frequency Analysis Using High Resolution Radar Rainfall Fields and Stochastic Storm Transposition

    NASA Astrophysics Data System (ADS)

    Wright, D. B.; Smith, J. A.; Villarini, G.; Baeck, M. L.

    2012-12-01

    Conventional techniques for rainfall and flood frequency analysis in small watersheds involve a variety of assumptions regarding the spatial and temporal structure of extreme rainfall systems as well as how resulting runoff moves through the drainage network. These techniques were developed at a time when observational and computational resources were limited. They continue to be used in practice though their validity has not been fully examined. New observational and computational resources such as high-resolution radar rainfall estimates and distributed hydrologic models allow us to examine these assumptions and to develop alternative methods for estimating flood risk. We have developed a high-resolution (1 square km, 15-minute resolution) radar rainfall dataset for the 2001-2010 period using the Hydro-NEXRAD processing system, which has been bias corrected using a dense network of 71 rain gages in the Charlotte metropolitan area. The accuracy of the bias-corrected radar rainfall estimates compare favorably with rain gage measurements. The radar rainfall dataset is used in a stochastic storm transposition framework to estimate the frequency of extreme rainfall for urban watersheds ranging the point/radar pixel scale up to 240 square km, and can be combined with the Gridded Surface Subsurface Hydrologic Analysis (GSSHA) model to estimate flood frequency analysis. The results of these frequency analyses can be compared against the results of conventional methods such as the NOAA Atlas 14 precipitation frequency estimates and peak discharge estimates prepared by FEMA and the North Carolina state government.

  17. Laparoscopic transposition of the left renal vein into the inferior vena cava for nutcracker syndrome.

    PubMed

    Hartung, Olivier; Azghari, Amine; Barthelemy, Pierre; Boufi, Mourad; Alimi, Yves S

    2010-09-01

    Reimplantation of the left renal vein into the infrarenal inferior vena cava is the standard surgical procedure for nutcracker syndrome. A 40-year-old woman with a solitary left kidney suffered from left lumbar pain and hematuria. Imaging techniques found a large kidney with nutcracker syndrome. A totally laparoscopic transposition of the left renal vein was performed. Twelve months later, the patient is improved and has no more hematuria. Duplex scan showed no residual stenosis. Laparoscopic transposition of the left renal vein into the inferior vena cava is feasible with short length of stay and good short-term result. PMID:20576393

  18. D-TRANSPOSITION OF THE GREAT ARTERIES: Hot Topics in the Current Era of the Arterial Switch Operation

    PubMed Central

    Villafañe, Juan; Lantin-Hermoso, M. Regina; Bhatt, Ami B.; Tweddell, James S.; Geva, Tal; Nathan, Meena; Elliott, Martin J.; Vetter, Victoria L.; Paridon, Stephen M.; Kochilas, Lazaros; Jenkins, Kathy J.; Beekman, Robert H.; Wernovsky, Gil; Towbin, Jeffrey A.

    2015-01-01

    Objectives This paper aims to update clinicians on “Hot Topics” in the management of patients with d-transposition of the great arteries (D-TGA) in the current surgical era. Background The arterial switch operation (ASO) has replaced atrial switch procedures for D-TGA and 90% of patients now reach adulthood. Methods The Adult Congenital and Pediatric Cardiology Council (ACPC) of the American College of Cardiology assembled a team of experts to summarize current knowledge on genetics, prenatal diagnosis, surgical timing, balloon atrial septostomy (BAS), prostaglandin therapy (PGE), intraoperative techniques, imaging, coronary obstruction, arrhythmias, sudden death, aortic dilation and regurgitation (AR), neurodevelopmental (ND) issues and lifelong care of D-TGA patients. Results In simple D-TGA, 1) familial recurrence risk is low; 2) children diagnosed prenatally have improved cognitive skills compared with those diagnosed postnatally; 3) echocardiography helps to identify risk factors; 4) routine use of BAS and PGE may not be beneficial in some cases; 5) early ASO improves outcomes and reduces costs with a low mortality. Single or intramural coronary arteries remain risk factors; 6) post-ASO arrhythmias and cardiac dysfunction should raise suspicion of coronary insufficiency; 7) coronary insufficiency and arrhythmias are rare but associated with sudden death; 8) early and late-onset ND abnormalities are common; 9) AR and aortic root dilation are well tolerated; and 10) the aging ASO patient may benefit from “exercise-prescription” rather than restriction. Conclusions Significant strides have been made in understanding risk factors for cardiac, ND and other important clinical outcomes after ASO. PMID:25082585

  19. High rates of Ac/Ds germinal transposition in Arabidopsis suitable for gene isolation by insertional mutagenesis.

    PubMed Central

    Grevelding, C; Becker, D; Kunze, R; von Menges, A; Fantes, V; Schell, J; Masterson, R

    1992-01-01

    Overexpression of the Activator (Ac) transposase gene in Arabidopsis thaliana resulted in a minimal germinal transposition frequency of 27% in which independent Dissociation (Ds) transposition events were observed. Molecular analysis of 45 F1 generation Ac/Ds plants indicated that high rates of somatic excision had occurred, and independent germinal insertions were identified in F2 generation progeny plants. A tandem cauliflower mosaic virus (CaMV) promoter fused to two different Ac coding sequences significantly increased the rate of Ds transposition. The CaMV-Ac fusions activated single and multiple copies of two different Ds elements, DsDHFR and Ds35S-1, and reciprocal crosses resulted in similar transposition frequencies. The improved rate of independent germinal transposition observed makes Arabidopsis an ideal system for insertional mutagenesis. Images PMID:1321434

  20. Congenital hemophagocytic reticulosis.

    PubMed

    Koto, A; Morecki, R; Santorineou, M

    1976-04-01

    A fatal case of an apparently congenital form of hemophagocytic reticulosis is reported. The onset was manifested by hyperbilirubinemia and hepatosplenomegaly which were present at birth and persisted throughout life. Fever, anemia and pancytopenia developed at 1 month of age and became progressively worse. A splenectomy was performed at the age of 3 months, but the child died one day later with disseminated intravascular coagulation and pulmonary hemorrhage. The literature is reviewed with regard to the relationship of this case to (familial) hemophagocytic reticulosis and malignant histiocytosis (histiocytic medullary reticulosis). It is suggested that congenital hemophagocytic reticulosis, as described here, (familial) hemophagocytic reticulosis in infants, and malignant histiocytosis in adults all represent the same basic disorder with different ages of onset and clinicopathologic manifestations. PMID:1266810

  1. Hydrograph transposition to ungauged basin accounting for spatio-temporal rainfall variability

    NASA Astrophysics Data System (ADS)

    de Lavenne, Alban; Cudennec, Christophe

    2013-04-01

    Lack of measurements is one of the main issues in hydrological modelling. However, neighbours and nested gauged catchment are precious sources of information to understand the catchment behaviours within one region. Extracting the maximum of information from those points of measurements, that could be then transposed to ungauged catchment, is still a great challenge. We propose a methodology to transpose hydrological information from gauged catchments to ungauged ones, in order to simulate streamflow hydrographs. It uses geomorphology-based hydrological modelling, which is particularly well adapted to ungauged basins thanks to its robustness, generality and flexibility. We develop a geomorphology-based model on the gauged catchment which has been built in order to capture the main behaviour of the basin. Its transfer function considers the different dynamics of the catchment through the combination of velocities and width functions. Moreover, the explicit structure of the model enables to easily create a map of isochrone areas describing the time to the outlet. Therefore, spatially distributed rainfall can then be split into those isochrone areas, permitting the transfer function to deal with spatio-temporal variability of rainfall. Once the model calibrated, using a particle swarm optimisation algorithm, its transfer function is inversed to assess the net rainfall time series. In this way, we obtained a standardized variable which is used to estimate discharge in ungauged basin. Therefore, net rainfall time series is transposed and convoluted on the ungauged catchment using its own transfer function. Spatio-temporal rainfall variability between basins is considered through a correction of this net rainfall time series. This correction is based on differences between mean gross rainfall observation among those two catchments. This methodology is applied on pairs of basins among 6 gauged basins (from 5km² to 316km²) located in Brittany, France. For the benefit of

  2. Congenital midline cervical cleft.

    PubMed

    Agag, Richard; Sacks, Justin; Silver, Lester

    2007-01-01

    Congenital midline cervical cleft (CMCC) is a rare disorder of the ventral neck that is clinically evident at birth and must be differentiated from the more common thyroglossal duct cyst. The case of CMCC presented here was associated with chromosomes 13/14 de novo Robertsonian translocations as well as midline deformities including a sacral tuft and a minor tongue-tie. The case is presented as well as discussion of histopathology, embryology, and surgical treatment. PMID:17214531

  3. Other congenital abnormalities.

    PubMed

    Cobbett, J R

    1974-06-29

    The plastic surgeon is not a miracle worker, as so many of his patients believe. Nevertheless, he can do much to minimize the functional and cosmetic effect of many congenital deformities. If a moral can be drawn from this article it must be that the plastic surgeon should be given an early opportunity to see and assess the patients described here, if only to ease the anxiety in the minds of their parents by appropriate reassurance and discussion. PMID:4853507

  4. Prevalence of severe congenital heart disease after folic acid fortification of grain products: time trend analysis in Quebec, Canada

    PubMed Central

    Ionescu-Ittu, Raluca; Marelli, Ariane J; Mackie, Andrew S

    2009-01-01

    Objective To investigate whether the 1998 government policy for mandatory fortification of flour and pasta products with folate was followed by a reduction in the prevalence of severe congenital heart defects. Design Time trend analysis. Setting Province of Quebec, Canada. Participants Infants born in 1990-2005 identified with severe congenital heart defects (tetralogy of Fallot, endocardial cushion defects, univentricular hearts, truncus arteriosus, or transposition complexes) in Quebec administrative databases. Methods Data analysed in two time periods (before and after fortification). Birth prevalence measured annually as infants (live and stillbirths) with severe congenital heart defects per 1000 births in Quebec. Changes in the birth prevalence from the period before to the period after fortification were estimated with Poisson regression. Results Among the 1 324 440 births in Quebec in 1990-2005 there were 2083 infants born with severe congenital heart defects, corresponding to an average birth prevalence of 1.57/1000 births. Time trend analysis showed no change in the birth prevalence of severe birth defects in the nine years before fortification (rate ratio 1.01, 95% confidence interval 0.99 to 1.03), while in the seven years after fortification there was a significant 6% decrease per year (0.94, 0.90 to 0.97). Conclusions Public health measures to increase folic acid intake were followed by a decrease in the birth prevalence of severe congenital heart defects. These findings support the hypothesis that folic acid has a preventive effect on heart defects. PMID:19436079

  5. Congenital urinary tract obstruction: the long view.

    PubMed

    Chevalier, Robert L

    2015-07-01

    Maldevelopment of the collecting system resulting in urinary tract obstruction (UTO) is the leading identifiable cause of CKD in children. Specific etiologies are unknown; most cases are suspected by discovering hydronephrosis on prenatal ultrasonography. Congenital UTO can reduce nephron number and cause bladder dysfunction, which contribute to ongoing injury. Severe UTO can impair kidney growth in utero, and animal models of unilateral ureteral obstruction show that ischemia and oxidative stress cause proximal tubular cell death, with later development of interstitial fibrosis. Congenital obstructive nephropathy, therefore, results from combined developmental and obstructive kidney injury. Because of inadequacy of available biomarkers, criteria for surgical correction of upper tract obstruction are poorly established. Lower tract obstruction requires fetal or immediate postnatal intervention, and the rate of progression of CKD is highly variable. New biomarkers based on proteomics and determination of glomerular number by magnetic resonance imaging should improve future care. Angiotensin inhibitors have not been effective in slowing progression, although avoidance of nephrotoxins and timely treatment of hypertension are important. Because congenital UTO begins in fetal life, smooth transfer of care from perinatologist to pediatric and adult urology and nephrology teams should optimize quality of life and ultimate outcomes for these patients. PMID:26088076

  6. Congenital Urinary Tract Obstruction: The Long View

    PubMed Central

    Chevalier, Robert L.

    2015-01-01

    Maldevelopment of the collecting system resulting in urinary tract obstruction (UTO) is the leading identifiable cause of CKD in children. Specific etiologies are unknown; most cases are suspected by discovering hydronephrosis on prenatal ultrasonography. Congenital UTO can reduce nephron number and cause bladder dysfunction, which contribute to ongoing injury. Severe UTO can impair kidney growth in utero, and animal models of unilateral ureteral obstruction show that ischemia and oxidative stress cause proximal tubular cell death, with later development of interstitial fibrosis. Congenital obstructive nephropathy therefore results from combined developmental and obstructive renal injury. Due to inadequacy of available biomarkers, criteria for surgical correction of upper tract obstruction are poorly established. Lower tract obstruction requires fetal or immediate postnatal intervention, and the rate of progression of CKD is highly variable. New biomarkers based on proteomics and determination of glomerular number by MRI should improve future care. Angiotensin inhibitors have not been effective in slowing progression, although avoidance of nephrotoxins and timely treatment of hypertension are important. Because congenital UTO begins in fetal life, smooth transfer of care from perinatologist to pediatric and adult urology and nephrology teams should optimize quality of life and ultimate outcomes for these patients. PMID:26088076

  7. Radiology of congenital heart disease

    SciTech Connect

    Amplatz, K.

    1986-01-01

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

  8. Genetics Home Reference: congenital hepatic fibrosis

    MedlinePlus

    ... Home Health Conditions congenital hepatic fibrosis congenital hepatic fibrosis Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital hepatic fibrosis is a disease of the liver that is ...

  9. Genetics Home Reference: Leber congenital amaurosis

    MedlinePlus

    ... Registry: Leber congenital amaurosis 9 National Eye Institute: Gene Therapy for Leber Congenital Amaurosis These resources from MedlinePlus ... Additional NIH Resources (1 link) National Eye Institute: Gene Therapy for Leber Congenital Amaurosis Educational Resources (3 links) ...

  10. Congenital optic nerve anomalies and hereditary optic neuropathies

    PubMed Central

    Heidary, Gena

    2014-01-01

    Congenital and hereditary optic nerve anomalies represent a significant cause of visual dysfunction. While some optic nerve abnormalities affect the visual system alone, others may be associated with neurologic and systemic findings. Correct identification of the optic nerve disease therefore is crucial both for developing a treatment plan with respect to visual rehabilitation, but also for initiating the appropriate multidisciplinary evaluation. The purpose of this review is to highlight common examples of congenital and inherited optic nerve abnormalities in an effort to familiarize the clinician with salient clinical features of these diseases and to review important systemic testing when relevant.

  11. Congenital bilobed gallbladder with phrygian cap presenting as calculus cholecystitis.

    PubMed

    Kannan, N S; Kannan, Usha; Babu, C P Ganesh

    2014-08-01

    The incidence of congenital bilobed gall bladder is 1 in 3000 to 4000. A Phrygian cap is a congenital abnormality of the gallbladder with an incidence of 4%. Preferred mode of diagnosis for Phrygian cap is cholescintigraphy and multi phase MRI, as Ultrasonography and CT are not always conclusive. The estimated prevalence of gallstone disease in India has been reported as 2% to 29%. A case of bilobed gall bladder with Phrygian cap in both the lobes and pigment gallstone in one of the lobes presenting as calculus cholecystitis is reported for its rarity and difficulty in arriving at correct preoperaive diagnosis. PMID:25302235

  12. Congenital Bilobed Gallbladder with Phrygian Cap Presenting as Calculus Cholecystitis

    PubMed Central

    Kannan, Usha; Babu, C.P. Ganesh

    2014-01-01

    The incidence of congenital bilobed gall bladder is 1 in 3000 to 4000. A Phrygian cap is a congenital abnormality of the gallbladder with an incidence of 4%. Preferred mode of diagnosis for Phrygian cap is cholescintigraphy and multi phase MRI, as Ultrasonography and CT are not always conclusive. The estimated prevalence of gallstone disease in India has been reported as 2% to 29%. A case of bilobed gall bladder with Phrygian cap in both the lobes and pigment gallstone in one of the lobes presenting as calculus cholecystitis is reported for its rarity and difficulty in arriving at correct preoperaive diagnosis PMID:25302235

  13. Congenital dislocation of the patella – clinical case☆

    PubMed Central

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

    2015-01-01

    Congenital patellar dislocation is a rare condition in which the patella is permanently dislocated and cannot be reduced manually. The patella develops normally as a sesamoid bone of the femur. This congenital dislocation results from failure of the internal rotation of the myotome that forms the femur, quadriceps muscle and extensor apparatus. It usually manifests immediately after birth, although in some rare cases, the diagnosis may be delayed until adolescence or adulthood. Early diagnosis is important, thereby allowing surgical correction and avoiding late sequelae, including early degenerative changes in the knee. A case of permanent dislocation of the patella is presented here, in a female child aged seven years. PMID:26962496

  14. An Evaluation of Frequency Transposition for Hearing-Impaired School-Age Children

    ERIC Educational Resources Information Center

    Smith, Jenny; Dann, Marilyn; Brown, P. Margaret

    2009-01-01

    A key objective when fitting hearing aids to children is to maximize the audibility of high frequency speech cues which are critical in the understanding of spoken English. Recent advances in digital signal processing have enabled the development of hearing aids which offer linear frequency transposition as a new way of accessing these important…

  15. Nasal-skin-fold transposition flap for upper lip reconstruction in a French bulldog

    PubMed Central

    Benlloch-Gonzalez, Manuel; Lafarge, Stéphanie; Bouvy, Bernard; Poncet, Cyrill

    2013-01-01

    Upper-lip reconstruction after mast-cell tumor-resection in a French bulldog was achieved by using a transposition flap from the nasal-skin-fold and an oral mucosal flap. The new technique is an alternative for reconstruction of extensive upper-lip defects in brachycephalic dogs and achieves satisfactory functional and cosmetic results. PMID:24155421

  16. Transposition of brachiobasilic arteriovenous fistulae: improving the cosmetic effect without compromising patency.

    PubMed

    van Dellen, David; Junejo, Muneer; Khambalia, Hussein; Campbell, Babatunde

    2016-01-01

    Introduction Subjects who undergo haemodialysis are living longer, which necessitates increasingly complex procedures for formation of arteriovenous fistulas. Basilic veins provide valuable additional venous 'real estate' but surgical transposition of vessels is required, which required a cosmetically disfiguring incision. A minimally invasive transposition method provides an excellent aesthetic alternative without compromised outcomes. Methods A retrospective review was made of minimally invasive brachiobasilic fistula transpositions (using two short incisions of <4 cm) between February 2005 and July 2011. Primary endpoints were one-year patency as well as the perioperative and late complications of the procedure. Results Thirty-one patients underwent 32 transposition procedures (eight pre-dialysis cases; 24 haemodialysis patients). All patients were treated with a minimally invasive method. Thirty-one procedures resulted in primary patency, with the single failure refashioned successfully. The only indication for a more invasive approach was intraoperative complications (two haematomas). All other complications presented late and were amenable to intervention (one aneurysm, one peri-anastomotic stricture). Conclusion Formation of arteriovenous fistulae using minimally invasive methods is a novel approach that ensures fistula patency with improved aesthetic outcomes and without significant morbidity. PMID:26688395

  17. Chemo- and regioselective reductive transposition of allylic alcohol derivatives via iridium or rhodium catalysis.

    PubMed

    Lundgren, Rylan J; Thomas, Bryce N

    2016-01-18

    We report highly chemo- and regioselective reductive transpositions of methyl carbonates to furnish olefin products with complementary regioselectivity to that of established Pd-catalysis. These Rh- and Ir-catalysed transformations proceed under mild conditions and enable selective deoxygenation in the presence of functional groups that are susceptible to reduction by metal hydrides. PMID:26587569

  18. Generation of Tandem Direct Duplications by Reversed-Ends Transposition of Maize Ac Elements

    PubMed Central

    Peterson, Thomas

    2013-01-01

    Tandem direct duplications are a common feature of the genomes of eukaryotes ranging from yeast to human, where they comprise a significant fraction of copy number variations. The prevailing model for the formation of tandem direct duplications is non-allelic homologous recombination (NAHR). Here we report the isolation of a series of duplications and reciprocal deletions isolated de novo from a maize allele containing two Class II Ac/Ds transposons. The duplication/deletion structures suggest that they were generated by alternative transposition reactions involving the termini of two nearby transposable elements. The deletion/duplication breakpoint junctions contain 8 bp target site duplications characteristic of Ac/Ds transposition events, confirming their formation directly by an alternative transposition mechanism. Tandem direct duplications and reciprocal deletions were generated at a relatively high frequency (∼0.5 to 1%) in the materials examined here in which transposons are positioned nearby each other in appropriate orientation; frequencies would likely be much lower in other genotypes. To test whether this mechanism may have contributed to maize genome evolution, we analyzed sequences flanking Ac/Ds and other hAT family transposons and identified three small tandem direct duplications with the structural features predicted by the alternative transposition mechanism. Together these results show that some class II transposons are capable of directly inducing tandem sequence duplications, and that this activity has contributed to the evolution of the maize genome. PMID:23966872

  19. Nasal-skin-fold transposition flap for upper lip reconstruction in a French bulldog.

    PubMed

    Benlloch-Gonzalez, Manuel; Lafarge, Stéphanie; Bouvy, Bernard; Poncet, Cyrill

    2013-10-01

    Upper-lip reconstruction after mast-cell tumor-resection in a French bulldog was achieved by using a transposition flap from the nasal-skin-fold and an oral mucosal flap. The new technique is an alternative for reconstruction of extensive upper-lip defects in brachycephalic dogs and achieves satisfactory functional and cosmetic results. PMID:24155421

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

    ERIC Educational Resources Information Center

    Velan, Hadas; Frost, Ram

    2009-01-01

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

  1. IS10/Tn10 transposition efficiently accommodates diverse transposon end configurations.

    PubMed Central

    Chalmers, R M; Kleckner, N

    1996-01-01

    Transposon Tn10 and its component insertion sequence IS10 move by non-replicative transposition. We have studied the array of reaction intermediates and products in a high efficiency in vitro IS10/Tn10 transposition reaction. Synapsis of two transposon ends, followed by cleavage and strand transfer, can occur very efficiently irrespective of the relative locations and orientations of the two ends. The two participating ends can occur in inverted or direct orientation on the same molecule or, most importantly, on two different molecules. This behavior contrasts sharply with that of Mu, in which transposition is strongly biased in favor of inverted repeat synapsis. Mechanistically, the absence of discrimination amongst various end configurations implies that the architecture within the IS10/Tn10 synaptic complex is relatively simple, i.e. lacking any significant intertwining of component DNA strands. Biologically these observations are important because they suggest that the IS10 insertion sequence module has considerable flexibility in the types of DNA rearrangements that it can promote. Most importantly, it now seems highly probable that a single non-replicative IS10 element can promote DNA rearrangements usually attributed to replicative transposition, i.e. adjacent deletions and cointegrates, by utilizing transposon ends on two sister chromosomes. Other events which probably also contribute to the diversity of IS10/Tn10-promoted rearrangements are discussed. Images PMID:8890185

  2. Flying and congenital heart disease.

    PubMed

    Macartney, F J

    1984-03-01

    Only those congenital defects carrying a very low risk of complication (either before or after surgical correction) were considered. Atrial Septal Defects--(a) Ostium primum defects should be treated with caution either before or after surgical correction because of the risk of progressive conduction disorders and mitral regurgitation. (b) Ostium secundum defects could be considered for licensing (if the defect is small) or with surgical repair if the right ventricular systolic pressure is normal. (c) Sinus venosus defects--if too small to require surgical repair, licensing may be considered provided ambulatory electrocardiographic monitoring shows no evidence of arrhythmias. Surgery increases the risk of sino-atrial disease, thus licensing should be permitted only where there is no evidence of arrhythmia and adequate cardiological follow-up is possible. Ventricular Septal Defects--Subjects with very small defects not requiring surgical closure may be considered for licensing. Subjects who have had surgical closure have a risk of arrhythmias and should be carefully evaluated. Pulmonary Stenosis--If mild (either before or after surgery) may be licensed, but regular assessment perhaps including right heart catheterization is needed to demonstrate stability of the lesion. Persistent Ductus Arteriosus--Surgical closure should be recommended on diagnosis and need not affect licensing. Isolated Bicuspid Aortic Valve--Need not debar from licensing, but careful annual examination (with electrocardiogram 2-D echocardiography and fluroscopy ) is required to detect calcification, stenosis or regurgitation. Coarctation of aorta--Subjects who have had a repair before the age of 12 years may be considered for licensing after examination of other risk factors (blood pressure at rest and on exercise in particular). Those repaired over the age of 12 may be considered for restricted licensing if normotensive. These recommendations will need review in the light of further long

  3. Induction of transpositions of MGE Dm412 by {gamma}-radiation in an isogenic line of Drosophila melanogaster

    SciTech Connect

    Zabanov, S.A.; Vasil`eva, L.A.; Ratner, V.A. |

    1995-06-01

    In an isogenic line of Drosophila, transpositions of mobile genetic elements (MGE) Dm412 were induced by {gamma}-radiation at doses of 300, 800, and 1300 R. The rates of induced transpositions were (for each dose, respectively) 3.9 x 10{sup {minus}3}, 1.0 x 10{sup {minus}2}, and 1.87 x 10{sup {minus}2} events per occupied site per haploid genome of the isogenic line per generation. Thus, the transposition rate increased linearly with the radiation dose. The specific rate of {gamma}-radiation-induced transpositions was (1.3 {+-} 0.6) x 10{sup {minus}5} per occupied site per haploid genome of the isogenic line per Roentgen per generation. {gamma}-Radiation-induced hot transposition sites and haplotypes, very similar to those induced by heat shock, were found. It was suggested that the mechanism of induction by {gamma}-radiation involves the heat shock system. Thus, it is more similar to the mechanism of temperature induction than to the direct mutational effect of {gamma}-radiation. Estimates of induced transposition rates per genome for each dose were calculated as 1.1, 3.0, and 5.6 events, respectively, per genome per generation. This level probably corresponds to the subthreshold level of genomes near the {open_quotes}catastrophic border of transpositional losses.{close_quotes} 21 refs., 1 fig., 4 tabs.

  4. Molecular and Genetic Studies of Congenital Myopathies

    ClinicalTrials.gov

    2015-10-26

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

  5. Successful Bridge to Orthotopic Cardiac Transplantation with Implantation of a HeartWare HVAD in Management of Systemic Right Ventricular Failure in a Patient with Transposition of the Great Arteries and Previous Atrial Switch Procedure.

    PubMed

    Stokes, Michael B; Saxena, Pankaj; McGiffin, David C; Marasco, Silvana; Leet, Angeline S; Bergin, Peter

    2016-05-01

    A clinical case is described of a patient with a history of dextro-transposition of the great arteries (d-TGA) and prior atrial switch procedure who developed significant pulmonary hypertension whilst awaiting orthotopic cardiac transplantation. The increase in his pulmonary pressures necessitated de-listing for cardiac transplantation. A strategy of ventricular assist device (VAD) placement was then employed which provided improvement in his systemic cardiac output with left atrial off-loading to provide pulmonary vascular remodelling and consequently reduction in pulmonary vascular resistance (PVR). He was supported for a period of 408 days prior to successful orthotopic cardiac transplantation. A small number of cases with this abnormality undergoing VAD implantation have been described. Mechanical circulatory support has an important role in some patients with congenital heart disease. PMID:26712611

  6. Architecture of the Tn7 Post-Transposition Complex: an Elaborate Nucleoprotein Structure

    PubMed Central

    Holder, Jason W.; Craig, Nancy L.

    2010-01-01

    Four transposition proteins encoded by the bacterial transposon Tn7, TnsA, TnsB, TnsC, and TnsD, mediate its site- and orientation-specific insertion into the chromosomal site attTn7. To establish which Tns proteins are actually present in the transpososome that executes DNA breakage and joining, we have determined the proteins present in the nucleoprotein product of transposition, the Post-Transposition Complex (PTC) using fluorescently labeled Tns proteins. All four required Tns proteins are present in the PTC in which we also find that the Tn7 ends are paired by protein-protein contacts between Tns proteins bound to the ends. Quantification of the relative amounts of the fluorescent Tns proteins in the PTC indicates that oligomers of TnsA, TnsB, and TnsC mediate Tn7 transposition. High-resolution DNA footprinting of the DNA product of transposition attTn7∷Tn7 revealed that about 350 bp of DNA on the transposon ends and on attTn7 contact the Tns proteins. All seven binding sites for TnsB, the component of the transposase that specifically binds the ends and mediates 3’ end breakage and joining, are occupied in the PTC. However, the protection pattern of the sites closest to the Tn7 ends in the PTC are different from that observed with TnsB alone, likely reflecting the pairing of the ends and their interaction with the target nucleoprotein complex necessary for activation of the breakage and joining steps. We also observe extensive protection of the attTn7 sequences in the PTC and that alternative DNA structures in substrate attTn7 that are imposed by TnsD are maintained in the PTC. PMID:20538004

  7. Development of the coronary arteries in a murine model of transposition of great arteries.

    PubMed

    González-Iriarte, M; Carmona, R; Pérez-Pomares, J M; Macías, D; Costell, M; Muñoz-Chápuli, R

    2003-07-01

    Transposition of great arteries in humans is associated with a wide spectrum of coronary artery patterns. However, no information is available about how this pattern diversity develops. We have studied the development of the coronary arteries in mouse embryos with a targeted mutation of perlecan, a mutation that leads to ventriculo-arterial discordance and complete transposition in about 70% of the embryos. The perlecan-deficient embryos bearing complete transposition showed a coronary artery pattern consisting of right and left coronary arteries arising from the morphologically dorsal and ventral sinuses of Valsalva, respectively. The left coronary artery gives rise to a large septal artery and runs along the ventral margin of the pulmonary root. In the earliest embryos where transposition could be confirmed (12.5 d post coitum), a dense subepicardial vascular plexus is located in this ventral margin. In wild-type mice, however, capillaries are very scarce on the ventral surface of the pulmonary root and the left coronary artery runs dorsally to this root. We suggest that the establishment of the diverse coronary artery patterns is determined by the anatomical arrangement and the capillary density of the peritruncal vascular plexus, a plexus that spreads from the atrio-ventricular groove and grows around the aortic or pulmonary roots depending on the degree of the short-axis aortopulmonary rotation. This simple model, based on very few assumptions, might explain all the observed variation of the coronary artery patterns in humans with transposition, as well as our observations on the perlecan-deficient and the normal mice. PMID:12818570

  8. Clinical and electrophysiological assessment of inferior alveolar nerve function after lateral nerve transposition.

    PubMed

    Nocini, P F; De Santis, D; Fracasso, E; Zanette, G

    1999-04-01

    Inferior alveolar nerve (IAN) transposition surgery may cause some degree of sensory impairment. Accurate and reproducible tests are mandatory to assess IAN conduction capacity following nerve transposition. In this study subjective (heat, pain and tactile-discriminative tests) and objective (electrophysiological) assessments were performed in 10 patients receiving IAN transposition (bilaterally in 8 cases) in order to evaluate any impairment of the involved nerves one year post-operatively. All patients reported a tingling, well-tolerated sensation in the areas supplied by the mental nerve with no anaesthesia or burning paresthesia. Tactile discrimination was affected the most (all but 1 patient). No action potential was recorded in 4 patients' sides (23.5%); 12 sides showed a decreased nerve conduction velocity (NCV) (70.5%) and 1 side normal NCV values (6%). There was no significant difference in NCV decrease between partial and total transposition sides, if examined separately. Nerve conduction findings were related 2-point discrimination scores, but not to changes in pain and heat sensitivity. These findings show that lateral nerve transposition, though resulting in a high percentage of minor IAN injuries, as determined by electrophysiological testing, provides a viable surgical procedure to allow implant placement in the posterior mandible without causing severe sensory complaints. Considering ethical and forensic implications, patients should be fully informed that a certain degree of nerve injury might be expected to occur from the procedure. Electrophysiological evaluation is a reliable way to assess the degree of IAN dysfunction, especially if combined with a clinical examination. Intraoperative monitoring of IAN conduction might help identify the pathogenetic mechanisms of nerve injury and the surgical steps that are most likely to harm nerve integrity. PMID:10219131

  9. Congenital limb deficiency disorders.

    PubMed

    Wilcox, William R; Coulter, Colleen P; Schmitz, Michael L

    2015-06-01

    Congenital limb deficiency disorders (LDDs) are birth defects characterized by the aplasia or hypoplasia of bones of the limbs. Limb deficiencies are classified as transverse, those due to intrauterine disruptions of previously normal limbs, or longitudinal, those that are isolated or associated with certain syndromes as well as chromosomal anomalies. Consultation with a medical geneticist is advisable. Long-term care should occur in a specialized limb deficiency center with expertise in orthopedics, prosthetics, and occupational and physical therapy and provide emotional support and contact with other families. With appropriate care, most children with LDDs can lead productive lives. PMID:26042905

  10. [Congenital myasthenic syndrome].

    PubMed

    Araga, Shigeru

    2008-06-01

    Congenital myasthenic syndromes (CMS) are rare heterogeneous disorders in which neuromuscular transmission is compromised by one or more specific mechanisms. CMS are clinically diagnosed by a history of fatigability and muscle weakness since infancy or early childhood, a decremental EMG response and the absence of acetylcholine receptor antibodies. CMS form a heterogeneous group of disorders which are classified as originating from presynaptic, synaptic or postsynaptic defects. Molecular genetic studies reveal a various type of mutations in synapse-associated genes. However, the genetic abnormalities of many CMS are still unresolved. This article outlines the classification of CMS and etiology of individual forms. PMID:18540366

  11. Precalcaneal Congenital Fibrolipomatous Hamartoma

    PubMed Central

    Yang, Ji-Hye; Park, Oun-Jae; Kim, Jeong-Eun; Won, Chong-Hyun; Chang, Sung-Eun; Choi, Jee-Ho; Moon, Kee-Chan

    2011-01-01

    Precalcaneal congenital fibrolipomatous hamartomas (PCFHs) are characterized clinically by the presence of unilateral or bilateral, asymptomatic nodules in the medial precalcaneal plantar region of the heel. They are skin colored and usually painless nodules. In most patients, the lesions appear within the first few months of life, but they may also be present at birth. Generally PCFHs are benign, but they can grow in proportion to the growth of the infants. Here, we report the case of a 4-month-old boy with a solitary, localized skin-colored nodule on the precalcaneal plantar region of his right heel, diagnosed as a PCFH. PMID:21738373

  12. Nonclassic Congenital Adrenal Hyperplasia

    PubMed Central

    Witchel, Selma Feldman; Azziz, Ricardo

    2010-01-01

    Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH. PMID:20671993

  13. Congenital nephrotic syndrome.

    PubMed

    Begolli, Mirije; Begolli, Ilir; Gojani, Xhenane; Arenliu-Qosaj, Fatime; Berisha, Merita

    2011-01-01

    The aim of this case is to present a case of a two month old female with congenital nephritic syndrome, which is very rare. On admission, the baby showed marked edema and distended abdomen. She was diagnosed and treated with daily albumin infusions, antibiotics, diuretic, gamma globulin replacement, ACEI and NSAIDs. Parents were informed about the nature of the disease, prognosis, and advised for further medical care in a more advanced kidney transplantation centre. This was the first treatment of this condition in the Pediatric Clinic in Kosovo and it presented a challenge for us. PMID:22299306

  14. CONGENITAL DIAPHRAGMATIC HERNIA

    PubMed Central

    Adams, Burton E.

    1954-01-01

    Treatment of congenital diaphragmatic hernia in infants is a matter of semi-emergency and should be done as soon as adequate preparations can be made because sometimes fatal complications develop swiftly. In preoperative preparation there is great advantage in thorough decompression of the abdominal viscera, stomach, bowel and bladder. As to operation, the author believes the abdominal approach has most to recommend it. In the postoperative period, continued gastric suction for a brief time, parenteral administration of fluids and use of a Mistogen tent with a high moist oxygen content will facilitate rapid recovery. ImagesFigure 1. PMID:13209363

  15. Congenital protein hypoglycosylation diseases

    PubMed Central

    Sparks, Susan E

    2012-01-01

    Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation are multisystemic. Since the identification of the first defect on N-linked glycosylation in the 1980s, there are over 40 different congenital protein hypoglycosylation diseases. This review will include defects of N-linked glycosylation, O-linked glycosylation and disorders of combined N- and O-linked glycosylation. PMID:23776380

  16. Congenital anterior urethral diverticulum.

    PubMed

    Singh, Sanjeet Kumar; Ansari, Ms

    2014-09-01

    Congenital anterior urethral diverticulum (CAUD) may be found all along the anterior urethra and may present itself at any age, from infant to adult. Most children with this condition present with difficulty in initiating micturition, dribbling of urine, poor urinary stream, or urinary tract infection. A careful history will reveal that these children never had a good urinary stream since birth, and the telltale sign is a cystic swelling of the penile urethra. In this paper, we present two cases of CAUD that were managed by excision of the diverticulum with primary repair. PMID:26328174

  17. Congenital Median Upper Lip Fistula

    PubMed Central

    al Aithan, Bandar

    2012-01-01

    Congenital median upper lip fistula (MULF) is an extremely rare condition resulting from abnormal fusion of embryologic structures. We present a new case of congenital medial upper lip fistula located in the midline of the philtrum of a 6 year old girl. PMID:22953305

  18. Efficacy of bipolar release in neglected congenital muscular torticollis patients.

    PubMed

    Seyhan, Nevra; Jasharllari, Lorenc; Keskin, Mustafa; Savacı, Nedim

    2012-06-01

    Surgical correction of the congenital muscular torticollis (CMT) is recommended for patients with unsuccessful conservative treatment. The aim of this study is to evaluate the efficacy of surgical release of congenital muscular torticollis in neglected cases. We retrospectively evaluated the data of our patients in terms of age, sex, clinical presentation, localization of the lesion, diagnostic tests, and additional abnormalities. The age at operation ranged from 6 to 23 years. Complete muscular release as determined by pre-operative and postoperative range of motion measurements was achieved in all of the patients by bipolar release. In this study, neck motion and head tilt showed marked improvement with surgical treatment in cases with CMT who were admitted to the hospital lately. Congenital muscular torticollis patients can benefit from surgical intervention above the age of 5. Bipolar release is an adequate and complication-free method. PMID:22045346

  19. Advances in Surgical Treatment of Congenital Airway Disease.

    PubMed

    Ragalie, William S; Mitchell, Michael E

    2016-01-01

    Tracheobronchomalacia (TBM) is frequently present in infants and children with congenital heart disease (CHD). Infants with CHD and TBM appear to do worse than those without TBM. The principle of operative intervention for TBM is to improve function of the airway and clinical status. When indicated, conventional surgical options include tracheostomy, aortopexy, tracheoplasty, and anterior tracheal suspension. There is no consensus on the optimal treatment of severe tracheobonchomalacia, which can be associated with a mortality rate as high as 80%. Congenital tracheal stenosis is also frequently associated with CHD (vascular rings, atrioventricular canal defects, and septal defects) and may require concomitant repair. Repair of tracheal stenosis is often associated with distal TBM. This article addresses new techniques that can be performed in corrective surgery for both TBM and congenital tracheal stenosis. PMID:27568138

  20. Knowledge and Awareness of Congenital Cytomegalovirus Among Women

    DOE PAGESBeta

    Jeon, Jiyeon; Victor, Marcia; Adler, Stuart P.; Arwady, Abigail; Demmler, Gail; Fowler, Karen; Goldfarb, Johanna; Keyserling, Harry; Massoudi, Mehran; Richards, Kristin; et al

    2006-01-01

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

  1. [Genetics of congenital lipodystrophies].

    PubMed

    Buffet, A; Lombes, M; Caron, P

    2015-10-01

    Congenital lipodystrophies are heterogeneous genetic diseases, leading to the loss of adipose tissue. This loss of adipose tissue can be generalized or partial, thus defining different phenotypes. These lipodystrophies have a major metabolic impact, secondary to lipotoxicity. This lipotoxicity is responsible for insulin resistance, dyslipidemia and hepatic steatosis. The severity of the metabolic impact correlates with the severity of the loss of adipose tissue. Mutations in 15 predisposition genes are currently described; BSCL2 and AGPT2 genes are the major genes in the generalized forms. On the contrary, LMNA and PPARG gene mutations are recovered in partial lipodystrophies forms. These different genes encode for proteins involved in adipocyte physiology, altering adipocyte differentiation, triglycerides synthesis and lysis or playing a major role in the lipid droplet formation. Congenital lipodystrophies treatment is based on the management of metabolic comorbidities but recombinant leptin therapy appears to have promising results. These different points have been recently discussed during the 2015 Endocrine Society Congress, notably by S. O'Rahilly and are highlighted in this review. PMID:26776286

  2. Congenital fiber type disproportion.

    PubMed

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. PMID:26526626

  3. [Congenital defects and incapacity].

    PubMed

    Jouve de la Barreda, Nicolás

    2009-01-01

    As a whole the congenital defects constitute an important section of the medical attention affecting near 3% of the population. A 15% of spontaneous abortions take place of which the greater frequency corresponds to the chromosome anomalies (25%) and the monogenic mutations (20%) and in a lesser extent to the effects of teratogenic agents. Between the genetic causes determining the congenital defects the mutations that affect genes acting in the early stages of development occupy a main place. These alterations can affect to homeotic genes or monogenic systems that act during the critical phases of the organogenesis. It seems evident that an alteration in the expression of a necessary gene for the appearance of a morphogenetic change constitutes the angular stone to understand resurging of a malformation or discapacity. In the last years has been demonstrated the importance of the teratogenic or environmental agents on the delicate internal physiological balance during the critical stages of the development. In this context must be included the inductive environmental factors inducing epigenetic modifications in the early stage of the development of the embryos produced by fertilization in vitro. PMID:19799481

  4. [Congenital multiple arthrogryposis].

    PubMed

    Parsch, Klaus; Pietrzak, Szymon

    2007-03-01

    From 1975 to 2004 a total of 38 children handicapped by congenital multiple arthrogryposis were cared for. The congenital joint contractures demand a major effort in terms of surgical reconstruction. In the case of distal arthrogryposis the chances that patients will be able to walk without help are good, while those with amyoplasia are likely to be dependent on mobility aids throughout their lives. The ultimate goal of treatment for patients is to develop into self-confident adults who can cope with life despite their handicaps. The hip in arthrogryposis shows variable forms of pathology, ranging from the almost normal hip to hip contractures with dislocation. Its treatment has some limited advantages, but hardly improves mobility. The knee contractures are actively treated to allow patients to sit, stand and walk better. The club foot and the rocker-bottom foot need sophisticated conservative and operative treatments. If conservative manipulation of bilateral extension contractures of the elbow fails operative treatment is carried out on the dominant side. For shoulder, hand and finger contractures conservative manipulation brings about little improvement, and surgical approaches help hardly at all. PMID:17323063

  5. Cataracts in Congenital Toxoplasmosis

    PubMed Central

    Arun, Veena; Noble, A. Gwendolyn; Latkany, Paul; Troia, Robert N.; Jalbrzikowski, Jessica; Kasza, Kristen; Karrison, Ted; Cezar, Simone; Sautter, Mari; Greenwald, Mark J.; Mieler, William; Mets, Marilyn B.; Alam, Ambereen; Boyer, Kenneth; Swisher, Charles N.; Roizen, Nancy; Rabiah, Peter; Del Monte, Monte A.; McLeod, Rima

    2008-01-01

    Purpose To determine the incidence and natural history of cataracts in children with congenital toxoplasmosis. Methods Children referred to the National Collaborative Chicago-based Congenital Toxoplasmosis Study (NCCCTS) between 1981 and 2005 were examined by ophthalmologists at predetermined times according to a specific protocol. The clinical course and treatment of patients who developed cataracts was reviewed. Results In the first year of life, 134 of 173 children examined were treated with pyrimethamine, sulfadiazine, and Leucovorin, while the remaining 39 were not treated. Cataracts occurred in 27 eyes of 20 patients (11.6%, 95% confidence interval [7.2%, 17.3%]). Fourteen cataracts were present at birth, and 13 developed postnatally. Locations of the cataracts included anterior polar (3 eyes), anterior subcapsular (6), nuclear (5), posterior subcapsular (7), and unknown (6). Thirteen cataracts were partial, 9 total, and 5 with unknown complexity. Twelve cataracts remained stable, 12 progressed, and progression was not known for 3. Five of 27 eyes had cataract surgery, with 2 of these developing glaucoma. Sixteen eyes of 11 patients had retinal detachment and cataract. All eyes with cataracts had additional ocular lesions. Conclusions In the NCCCTS cohort, 11.6% of patients were diagnosed with cataracts. There was considerable variability in the presentation, morphology, and progression of the cataracts. Associated intraocular pathology was an important cause of morbidity. PMID:18086432

  6. [Enzymopathic congenital hyperlactacidemia].

    PubMed

    Leroux, J P; Marsac, C; Saudubray, J M

    1976-01-01

    Congenital enzymopathic hyperlactacidemia results from a defect of utilisation of pyruvate either at the level of the pyruvate junction (pyruvate-carboxylase, pyruvate-dehydrogenase and Kreb's cycle), or at the level of the unidirectional enzymes on neo-glucogenesis and of neo-glycogenogenesis, e.g. glucose-6-phosphatase, phosphoenol-pyruvate-carboxykinase and glycogen synthetase. The enzymopathies which affect neoglucogenesis associate hyper-lactacidemia and fasting hypoglycemia and more or less marked hepatomegaly. Type I glycogenesis (von Gierke's disease) is the best known example. Enzymopathies which affect the pyruvate junction and the Krebs cycle, may be manifested in addition by: --either chronic neuropathies, e.g. Leigh's disease, recurrent ataxia, and moderate hyperalactacidemia,--or, as in congenital lactic acidoses, which have a rapid and severe prognosis with major hyperlactacidemia. Functional investigation, in particular, loading tests are of great value in orientation and justify the practice of tissue biopsy which permits the enzyme diagnosis. Recent, still unconfirmed knowledge of the pathogenesis of these diseases emphasizes the considerable importance of estimation of blood lactic acid in the investigation of metabolic acidoses of hereditary origin. PMID:184725

  7. Total knee arthroplasty in a patient with neglected congenital patellar dislocation.

    PubMed

    Tunay, Servet; Ozkan, Huseyin; Köse, Ozkan; Atik, Aziz; Basbozkurt, Mustafa

    2009-10-01

    Late presentation of congenital patellar dislocation with advanced osteoarthritis is rare. This article presents a case of 56-year-old woman with advanced osteoarthritis due to right neglected congenital patellar dislocation treated with total knee arthroplasty (TKA) with release of the lateral retinaculum and proximal extensor mechanism realignment. One year later, the patient had improvement of her Knee Society scores and painless function, stability, and better extensor strength. A literature search revealed a limited number of similar cases in which congenital patellar dislocation was treated with TKA. Total knee arthroplasty provides a valid treatment option for adults with congenital patellar dislocation who have absence of the femoral sulcus and associated osteoarthritis. Total knee arthroplasty has the ability to correct the pathologies seen with congenital patellar dislocation, eg, external tibial rotation, absence of femoral groove, and patellar hypoplasia. Realignment of extensor mechanism restores quadriceps strength, normal knee biomechanics, and may prevent complications such as dislocation. PMID:19824599

  8. Cardiac Embryology and Molecular Mechanisms of Congenital Heart Disease: A Primer for Anesthesiologists.

    PubMed

    Kloesel, Benjamin; DiNardo, James A; Body, Simon C

    2016-09-01

    Congenital heart disease is diagnosed in 0.4% to 5% of live births and presents unique challenges to the pediatric anesthesiologist. Furthermore, advances in surgical management have led to improved survival of those patients, and many adult anesthesiologists now frequently take care of adolescents and adults who have previously undergone surgery to correct or palliate congenital heart lesions. Knowledge of abnormal heart development on the molecular and genetic level extends and improves the anesthesiologist's understanding of congenital heart disease. In this article, we aim to review current knowledge pertaining to genetic alterations and their cellular effects that are involved in the formation of congenital heart defects. Given that congenital heart disease can currently only occasionally be traced to a single genetic mutation, we highlight some of the difficulties that researchers face when trying to identify specific steps in the pathogenetic development of heart lesions. PMID:27541719

  9. Discovery and Management of Diaphragmatic Hernia Related to Abandoned Epicardial Pacemaker Wires in a Pregnant Woman with {S,L,L} Transposition of the Great Arteries

    PubMed Central

    Benson, Craig C.; Valente, Anne M.; Economy, Katherine E.; Hoffman-Sage, Yael; Bevilacqua, Laura M.; Podovei, Mihaela; Opotowsky, Alexander R.

    2012-01-01

    Epicardial pacemaker leads placed during childhood are often not removed when transvenous systems are placed later in life. The risk of complications related to retained pacemaker leads and generators is not clear but is generally considered low. We report the case of a 23-year-old pregnant woman who presented with left upper quadrant pain at 20 weeks gestation. The patient was born with {S,L,L} transposition of the great arteries and had high-grade conduction disease in infancy compelling epicardial pacemaker placement. A standard transvenous pacemaker was placed at age 9 years, without removal of the epicardial system. The patient’s abdominal pain was attributed to herniation of abdominal contents through a diaphragmatic defect at the site of the abandoned epicardial pacing wire. Her pain improved spontaneously but worsened later in pregnancy leading to repair of the diaphragmatic hernia via anterolateral thoracotomy at 30 weeks gestation. The procedure was well tolerated by mother and fetus. At 38 3/7 weeks gestation, the patient underwent uneventful delivery by cesarean section for breech presentation. This case illustrates the importance of multidisciplinary collaboration in the care of women with congenital heart disease. PMID:21718459

  10. [Study of the transcriptional and transpositional activities of the Tirant retrotransposon in Drosophila melanogaster strains mutant for the flamenco locus].

    PubMed

    Nefedova, L N; Urusov, F A; Romanova, N I; Shmel'kova, A O; Kim, A I

    2012-11-01

    Transpositions of the gypsy retrotransposon in the Drosophila melanogaster genome are controlled by the flamenco locus, which is represented as an accumulation of defective copies of transposable elements. In the present work, genetic control by the flamenco locus of the transcriptional and transpositional activities of the Tirant retrotransposon from the gypsy group was studied. Tissue-specific expression of Tirant was detected in the tissues of ovaries in a strain mutant for the flamenco locus. Tirant was found to be transpositionally active in isogenic D. melanogaster strains mutant for the flamenco locus. The sites of two new insertions have been localized by the method of subtractive hybridization. It has been concluded from the results obtained that the flamenco locus is involved in the genetic control of Tirant transpositions. PMID:23297482

  11. Mandibular fracture as a complication of inferior alveolar nerve transposition and placement of endosseous implants: a case report.

    PubMed

    Karlis, Vasiliki; Bae, Richard D; Glickman, Robert S

    2003-01-01

    Placement of endosseous implants and inferior alveolar nerve transposition is a treatment option for patients with an edentulous posterior mandible with inadequate bone height superior to the inferior alveolar canal. Complications associated with these procedures include infection, prolonged neurosensory disturbances, and/or pathologic fracture. This report presents the surgical management of a patient with a mandible fracture after inferior alveolar nerve transposition with concurrent placement of two endosseous implants. PMID:14560480

  12. Endosseous implant placement in conjunction with inferior alveolar nerve transposition: a report of an unusual complication and surgical management.

    PubMed

    Luna, Anibal H B; Passeri, Luis A; de Moraes, Márcio; Moreira, Roger W F

    2008-01-01

    Inferior alveolar nerve transposition and placement of endosseous implants is one of the treatment options for patients with an edentulous posterior mandible with inadequate bone height superior to the inferior alveolar canal. The possible complications associated with this technique include prolonged neurosensory disturbances, infection, and pathologic fracture. This report presents the surgical management of a patient who sustained a mandibular fracture after inferior alveolar nerve transposition for the placement of 3 endosseous implants. PMID:18416424

  13. Congenital sensorineural hearing loss

    SciTech Connect

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

    1984-02-01

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

  14. Congenital adrenal hyperplasia

    PubMed Central

    Dessinioti, Cleo; Katsambas, Andreas

    2009-01-01

    Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency. Clinical forms range from the severe, classical CAH associated with complete loss of enzyme function, to milder, non-classical forms (NCAH). Androgen excess affects the pilosebaceous unit, causing cutaneous manifestations such as acne, androgenetic alopecia and hirsutism. Clinical differential diagnosis between NCAH and polycystic ovary syndrome may be difficult. In this review, the evaluation of patients with suspected CAH, the clinical presentation of CAH forms, with emphasis on the cutaneous manifestations of the disease, and available treatment options, will be discussed. PMID:22523607

  15. Multicystic congenital mesoblastic nephroma.

    PubMed

    Drut, Ricardo

    2002-01-01

    This report describes an unusual example of congenital mesoblastic nephroma cellular variant that presented in a 1-week-old neonate as a multicystic tumor of the kidney. Extensive pseudocystic cavitation resulted from progressive accumulation of ground substance in a loosely myxoid tissue composed of stellate- and spindle-shaped cells that compressed and infiltrated renal tissue. The cells of the tumor were positive for vimentin and smooth muscle actin. The patient is alive and well 16 years after surgery. Differential diagnosis from segmental cystic dysplasia, cystic intralobar nephrogenic rest, cystic nephroma, cystic partially differentiated nephroblastoma, cystic nephroblastoma, and cystic clear cell sarcoma of the kidney, all of which may present at this age, is discussed. PMID:11927972

  16. Congenital mirror movements.

    PubMed Central

    Schott, G D; Wyke, M A

    1981-01-01

    In this report are described seven patients assessed clinically and neuropsychologically in whom mirror movements affecting predominantly the hands occurred as a congenital disorder. These mirror movements, representing a specific type of abnormal synkinesia, may arise as a hereditary condition, in the presence of a recognisable underlying neurological abnormality, and sporadically, and the seven patients provide more or less satisfactory examples of each of these three groups. Despite the apparent uniformity of the disorder, the heterogeneity and variability may be marked, examples in some of our patients including the pronounced increase in tone that developed with arm movement, and the capacity for modulation of the associated movement by alteration of neck position and bio-feedback. Various possible mechanisms are considered; these include impaired cerebral inhibition of unwanted movements, and functioning of abnormal motor pathways. Emphasis has been placed on the putative role of the direct, crossed corticomotoneurone pathways and on the unilateral and bilateral cerebral events that precede movement. PMID:7288446

  17. Purification and characterization of TnsC, a Tn7 transposition protein that binds ATP and DNA.

    PubMed Central

    Gamas, P; Craig, N L

    1992-01-01

    The bacterial transposon Tn7 encodes five transposition genes tnsABCDE. We report a simple and rapid procedure for the purification of TnsC protein. We show that purified TnsC is active in and required for Tn7 transposition in a cell-free recombination system. This finding demonstrates that TnsC participates directly in Tn7 transposition and explains the requirement for tnsC function in Tn7 transposition. We have found that TnsC binds adenine nucleotides and is thus a likely site of action of the essential ATP cofactor in Tn7 transposition. We also report that TnsC binds non-specifically to DNA in the presence of ATP or the generally non-hydrolyzable analogues AMP-PNP and ATP-gamma-S, and that TnsC displays little affinity for DNA in the presence of ADP. We speculate that TnsC plays a central role in the selection of target DNA during Tn7 transposition. Images PMID:1317955

  18. TAL effectors mediate high-efficiency transposition of the piggyBac transposon in silkworm Bombyx mori L

    PubMed Central

    Ye, Lupeng; You, Zhengying; Qian, Qiujie; Zhang, Yuyu; Che, Jiaqian; Song, Jia; Zhong, Boxiong

    2015-01-01

    The piggyBac (PB) transposon is one of the most useful transposable elements, and has been successfully used for genetic manipulation in more than a dozen species. However, the efficiency of PB-mediated transposition is still insufficient for many purposes. Here, we present a strategy to enhance transposition efficiency using a fusion of transcription activator-like effector (TALE) and the PB transposase (PBase). The results demonstrate that the TALE-PBase fusion protein which is engineered in this study can produce a significantly improved stable transposition efficiency of up to 63.9%, which is at least 7 times higher than the current transposition efficiency in silkworm. Moreover, the average number of transgene-positive individuals increased up to 5.7-fold, with each positive brood containing an average of 18.1 transgenic silkworms. Finally, we demonstrate that TALE-PBase fusion-mediated PB transposition presents a new insertional preference compared with original insertional preference. This method shows a great potential and value for insertional therapy of many genetic diseases. In conclusion, this new and powerful transposition technology will efficiently promote genetic manipulation studies in both invertebrates and vertebrates. PMID:26608076

  19. Alternative Ac/Ds transposition induces major chromosomal rearrangements in maize.

    PubMed

    Zhang, Jianbo; Yu, Chuanhe; Pulletikurti, Vinay; Lamb, Jonathan; Danilova, Tatiana; Weber, David F; Birchler, James; Peterson, Thomas

    2009-03-15

    Barbara McClintock reported that the Ac/Ds transposable element system can generate major chromosomal rearrangements (MCRs), but the underlying mechanism has not been determined. Here, we identified a series of chromosome rearrangements derived from maize lines containing pairs of closely linked Ac transposable element termini. Molecular and cytogenetic analyses showed that the MCRs in these lines comprised 17 reciprocal translocations and two large inversions. The breakpoints of all 19 MCRs are delineated by Ac termini and characteristic 8-base-pair target site duplications, indicating that the MCRs were generated by precise transposition reactions involving the Ac termini of two closely linked elements. This alternative transposition mechanism may have contributed to chromosome evolution and may also occur during V(D)J recombination resulting in oncogenic translocations. PMID:19299561

  20. Analysis of the Superconducting Cable Transposition in Low Resistance CICC Joint

    NASA Astrophysics Data System (ADS)

    Zhu, You-hua

    2000-08-01

    In an integrated structure low resistance CICC joint, current is conducted by outer cable strands coming into touch with the conductive Cu sole. So it is an important condition for satisfying joint performance that each strand of the cable inside the joint is able to come to the outermost by transposition. This paper presents analysis, calculation and figures for the strand transposition. According to the twist procedures of the superconducting cable, the author computed the actual pitch of each stage cable, consecutively computed the projection of each stage cable on the axis of the cable (z axis) and the corresponding twist angle as the z coordinate changes, which is then drawn by AutoCAD. From the results shown in the figures, the minimal cable length, which enables each strand to transpose almost equally to the outermost of the cable in such a length, can be determined as the optimal joint length.

  1. RAG1 and RAG2 in V(D)J recombination and transposition.

    PubMed

    Fugmann, S D

    2001-01-01

    RAG1 and RAG2 are the key components of the V(D)J recombinase machinery that catalyses the somatic gene rearrangements of antigen receptor genes during lymphocyte development. In the first step of V(D)J recombination--DNA cleavage--the RAG proteins act together as an endonuclease to excise the DNA between two individual gene segments. They are also thought to be involved in the subsequent DNA joining step. In vitro, the RAG proteins catalyze the integration of the excised DNA element into target DNA completing a process similar to bacterial transposition. In vivo, this reaction is suppressed by an unknown mechanism. The individual roles of RAG1 and RAG2 in V(D)J recombination and transposition reactions are discussed based on mutation analyses and structure predictions. PMID:11417858

  2. The Need for Laparoscopic Ovarian Transposition in Young Patients with Cervical Cancer Undergoing Radiotherapy

    PubMed Central

    Purwoto, Gatot; Nuranna, Laila

    2013-01-01

    Maintaining the quality of life by preserving ovarian function in premenopausal patients with cervical cancer undergoing radiation is crucial. This can be accomplished with a simple and safe laparoscopic ovarian transposition procedure. This procedure aims to move the ovary out of the irradiation field, protecting it from direct radiation and irreversible damage and preserving its function. However, this procedure is often forgotten and seldom offered to patients. This review aims to lay stress on and reconsider the importance of laparoscopic ovarian transposition as a simple, safe, and extremely useful procedure. The biological effects of radiation are described briefly and several studies are evaluated, which reveal that this procedure has more benefits than risks. PMID:25763385

  3. The IS200/IS605 Family and "Peel and Paste" Single-strand Transposition Mechanism.

    PubMed

    He, S; Corneloup, A; Guynet, C; Lavatine, L; Caumont-Sarcos, A; Siguier, P; Marty, B; Dyda, F; Chandler, M; Ton Hoang, B

    2015-08-01

    This chapter presents an analysis of the organization and distribution of the IS200/IS605 family of insertion sequences (IS). Members of this family are widespread in both bacteria and archaea. They are unusual because they use obligatory single-strand DNA intermediates, which distinguishes them from classical IS. We summarize studies of the experimental model systems IS608 (from Helicobacter pylori) and ISDra2 (from Deinococcus radiodurans) and present biochemical, genetic, and structural data that describe their transposition pathway and the way in which their transposase (an HuH rather than a DDE enzyme) catalyzes this process. The transposition of IS200/IS605 family members can be described as a "Peel-and-Paste" mechanism. We also address the probable domestication of IS200/IS605 family transposases as enzymes involved in multiplication of repeated extragenic palindromes and as potential homing endonucleases in intron-IS chimeras. PMID:26350330

  4. The generalized partial transposition criterion for separability of multipartite quantum states

    NASA Astrophysics Data System (ADS)

    Chen, Kai; Wu, Ling-An

    2002-12-01

    We present a generalized partial transposition separability criterion for the density matrix of a multipartite quantum system. This criterion comprises as special cases the famous Peres-Horodecki criterion and the recent realignment criterion in [O. Rudolph, quant-ph/0202121] and [K. Chen, L.A. Wu, quant-ph/0205017]. It involves only straightforward matrix manipulations and is easy to apply. A quantitative measure of entanglement based on this criterion is also obtained.

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

    PubMed

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

    2013-05-01

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

  6. How is the serial order of a spatial sequence represented? Insights from transposition latencies.

    PubMed

    Hurlstone, Mark J; Hitch, Graham J

    2015-03-01

    How is the serial order of a spatial sequence represented in short-term memory (STM)? Previous research by Farrell and Lewandowsky (Farrell & Lewandowsky, 2004; Lewandowsky & Farrell, 2008) has shown that 5 alternative mechanisms for the representation of serial order can be distinguished on the basis of their predictions concerning the response times accompanying transposition errors. We report 3 experiments involving the output-timed serial recall of sequences of seen spatial locations that tested these predictions. The results of all 3 experiments revealed that transposition latencies are a negative function of transposition displacement, but with a reduction in the slope of the function for postponement, compared with anticipation errors. This empirical pattern is consistent with that observed in serial recall of verbal sequences reported by Farrell and Lewandowsky (2004), and with the predictions of a competitive queuing mechanism, within which serial order is represented via a primacy gradient of activations over items combined with associations between items and positional markers, and with suppression of items following recall. The results provide the first clear evidence that spatial and verbal STM rely on some common mechanisms and principles for the representation of serial order. PMID:25436478

  7. Insertion Sequence IS26 Reorganizes Plasmids in Clinically Isolated Multidrug-Resistant Bacteria by Replicative Transposition

    PubMed Central

    He, Susu; Hickman, Alison Burgess; Varani, Alessandro M.; Siguier, Patricia; Chandler, Michael; Dekker, John P.

    2015-01-01

    ABSTRACT Carbapenemase-producing Enterobacteriaceae (CPE), which are resistant to most or all known antibiotics, constitute a global threat to public health. Transposable elements are often associated with antibiotic resistance determinants, suggesting a role in the emergence of resistance. One insertion sequence, IS26, is frequently associated with resistance determinants, but its role remains unclear. We have analyzed the genomic contexts of 70 IS26 copies in several clinical and surveillance CPE isolates from the National Institutes of Health Clinical Center. We used target site duplications and their patterns as guides and found that a large fraction of plasmid reorganizations result from IS26 replicative transpositions, including replicon fusions, DNA inversions, and deletions. Replicative transposition could also be inferred for transposon Tn4401, which harbors the carbapenemase blaKPC gene. Thus, replicative transposition is important in the ongoing reorganization of plasmids carrying multidrug-resistant determinants, an observation that carries substantial clinical and epidemiological implications for understanding how such extreme drug resistance phenotypes evolve. PMID:26060276

  8. Optical transposition transform interconnects using a free-space and fiber hybrid module

    NASA Astrophysics Data System (ADS)

    Popelek, Jan; Li, Yao

    1999-04-01

    Cross-connect switch is a popular switching architecture for telecom and datacom applications. Using various switching components and a k-shuffle interconnect, a cross-connect switch can be configured for general-purpose, blocking as well as non-blocking networking applications. We show that a 1D k-shuffle interconnect pattern is topologically equivalent to a 2D transposition transform pattern. Based on this observation and using space-invariant optical components, the transposition transform interconnect is experimentally implemented. To achieve a sensible packing, we propose to incorporate fiber arrays into the implementation so that the interconnect offers connectorized plug-and-play capability with its switching arrays. Experimental results of implementing a 256 X 256 connectorized free-space and fiber hybrid transposition transform interconnect for cross-connect switching are presented. Key parameters, such as insertion loss, cross- talk, and bit-error-rate of the hybrid interconnect module are measured. Video data are used to demonstrate interconnect quality of various link channels. Scalability to larger interconnects are speculated.

  9. Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing.

    PubMed

    Amini, Sasan; Pushkarev, Dmitry; Christiansen, Lena; Kostem, Emrah; Royce, Tom; Turk, Casey; Pignatelli, Natasha; Adey, Andrew; Kitzman, Jacob O; Vijayan, Kandaswamy; Ronaghi, Mostafa; Shendure, Jay; Gunderson, Kevin L; Steemers, Frank J

    2014-12-01

    Haplotype-resolved genome sequencing enables the accurate interpretation of medically relevant genetic variation, deep inferences regarding population history and non-invasive prediction of fetal genomes. We describe an approach for genome-wide haplotyping based on contiguity-preserving transposition (CPT-seq) and combinatorial indexing. Tn5 transposition is used to modify DNA with adaptor and index sequences while preserving contiguity. After DNA dilution and compartmentalization, the transposase is removed, resolving the DNA into individually indexed libraries. The libraries in each compartment, enriched for neighboring genomic elements, are further indexed via PCR. Combinatorial 96-plex indexing at both the transposition and PCR stage enables the construction of phased synthetic reads from each of the nearly 10,000 'virtual compartments'. We demonstrate the feasibility of this method by assembling >95% of the heterozygous variants in a human genome into long, accurate haplotype blocks (N50 = 1.4-2.3 Mb). The rapid, scalable and cost-effective workflow could enable haplotype resolution to become routine in human genome sequencing. PMID:25326703

  10. Haplotype-resolved whole genome sequencing by contiguity preserving transposition and combinatorial indexing

    PubMed Central

    Amini, Sasan; Pushkarev, Dmitry; Christiansen, Lena; Kostem, Emrah; Royce, Tom; Turk, Casey; Pignatelli, Natasha; Adey, Andrew; Kitzman, Jacob O.; Vijayan, Kandaswamy; Ronaghi, Mostafa; Shendure, Jay; Gunderson, Kevin L.; Steemers, Frank J.

    2015-01-01

    Haplotype-resolved genomes equencing enables accurate interpretation of medically relevant genetic variation, deep inferences regarding population history, and the non-invasive prediction of fetal genomes. We describe an approach for genome-wide haplotyping based on contiguity preserving transposition (CPT-Seq) and combinatorial indexing. Tn5 transposition is used to modify DNA with adapter and index sequences while preserving contiguity. After dilution and compartmentalization, the transposase is removed, resolving the DNA into individually indexed libraries. The libraries in each compartment, enriched for neighboring genomic elements, are further indexed via PCR. Combinatorial 96-plex indexing at both the transposition and PCR stage enables the construction of phased synthetic reads from each of the nearly 10,000 “virtual compartments”. We demonstrate feasibility of this method by assembling >95% of heterozygous variants in a human genome into long, accurate haplotype blocks (N50 = 1.4–2.3 Mb). The rapid, scalable, and cost-effective workflow could enable haplotype resolution to become routine in human genome sequencing. PMID:25326703

  11. [Anatomic repair of transposition of the great arteries or arterial switch operation. Report of 62 cases].

    PubMed

    Abid, Fekria; Chaker, Lilia; Hakim, Khaouther; Larbi, Chiheb; Ouarda, Fatma; Msaad, Hela; Mechmeche, Rachid

    2004-01-01

    Between January 1990 and September 2003, 62 patients underwent anatomic repair of a transposition of the great arteries. Mean operative age is 40 days. Transposition of the great arteries was simple in 38 cases and associated to a large ventricular septal defect in 24 cases. 44 patients have had an atrial septostomy of Rashkind and 45 an infusion of prostaglandin E 1.5 patients with simple transposition of the great arteries have had left ventricular retraining before arteriel switch. In association to arterial switch, were performed closure of ventricular septal defect in 24 cases, cure of coarctation of the aorta in 4 cases and cure of an abnormal partial pulmonary venous return in 1 case. Early mortality was 6,45%. After a mean follow up of 3 years, one patient died suddenly (late mortality is 1.72%) and one patient had to have 2 reoperations. Results of anatomic repair are now excellent. Late mortality is essentially related to coronary complications so that a careful follow-up is mandatory. PMID:15127697

  12. Transposase interaction with the β sliding clamp: effects on insertion sequence proliferation and transposition rate

    PubMed Central

    Díaz-Maldonado, Héctor; Gómez, Manuel J.; Moreno-Paz, Mercedes; San Martín-Úriz, Patxi; Amils, Ricardo; Parro, Víctor; López de Saro, Francisco J.

    2015-01-01

    Insertion sequences (ISs) are ubiquitous and abundant mobile genetic elements in prokaryotic genomes. ISs often encode only one protein, the transposase, which catalyzes their transposition. Recent studies have shown that transposases of many different IS families interact with the β sliding clamp, a DNA replication factor of the host. However, it was unclear to what extent this interaction limits or favors the ability of ISs to colonize a chromosome from a phylogenetically-distant organism, or if the strength of this interaction affects the transposition rate. Here we describe the proliferation of a member of the IS1634 family in Acidiphilium over ~600 generations of cultured growth. We demonstrate that the purified transposase binds to the β sliding clamp of Acidiphilium, Leptospirillum and E. coli. Further, we also demonstrate that the Acidiphilium IS1634 transposase binds to the archaeal sliding clamp (PCNA) from Methanosarcina, and that the transposase encoded by Methanosarcina IS1634 binds to Acidiphilium β. Finally, we demonstrate that increasing the strength of the interaction between β and transposase results in a higher transposition rate in vivo. Our results suggest that the interaction could determine the potential of ISs to be mobilized in bacterial populations and also their ability to proliferate within chromosomes. PMID:26306550

  13. Genome Rearrangements in Maize Induced by Alternative Transposition of Reversed Ac/Ds Termini

    PubMed Central

    Yu, Chuanhe; Zhang, Jianbo; Peterson, Thomas

    2011-01-01

    Alternative transposition can induce genome rearrangements, including deletions, inverted duplications, inversions, and translocations. To investigate the types and frequency of the rearrangements elicited by a pair of reversed Ac/Ds termini, we isolated and analyzed 100 new mutant alleles derived from two parental alleles that both contain an intact Ac and a fractured Ac (fAc) structure at the maize p1 locus. Mutants were characterized by PCR and sequencing; the results show that nearly 90% (89/100) of the mutant alleles represent structural rearrangements including deletions, inversions, translocations, or rearrangement of the intertransposon sequence (ITS). Among 37 deletions obtained, 20 extend into the external flanking sequences, while 17 delete portions of the intertransposon sequence. Interestingly, one deletion allele that contains only a single nucleotide between the retained Ac and fAc termini is not competent for further alternative transposition events. We propose a new model for the formation of intertransposon deletions through insertion of reversed transposon termini into sister-chromatid sequences. These results document the types and frequencies of genome rearrangements induced by alternative transposition of reversed Ac/Ds termini in maize. PMID:21339479

  14. The Retrograde Transposition of the Remnant Earlobe in Patients With Low-Set Microtia.

    PubMed

    Cheng, Lin; Hu, Jin-Tian; Zhou, Xu; Li, Zhi-Bin; Zhang, Yong-Biao; Cao, Yi-Lin; Zhang, Qing-Guo; Liu, Tun

    2015-10-01

    During auricle reconstruction, lobular transposition has become a routine technique applied by most of surgeons. But to some low-set remnant ears, it is difficult to manipulate the conventional lobule transposition method in clinical application. In this article, the authors introduce a method to retrogradely transpose the remnant ear with the the ratio of length:width of the lobular flap being 4-5:1. The lobule transposition could be applied during the first stage of Nagata method or the third stage using expansion method. The authors take the superior part of the remnant ear as the pedicle and make the incision at the middle and inferior parts of the remnant ear to form the lobular flap. Then the inferior lobule is rotated posteriorly and superiorly to cover the rear end of the framework and to form the inferior part of helical rim. The results of the reconstructed auricles are satisfactory with aesthetic natural earlobes and the location of the reconstructed ear is symmetric to the contralateral ear. The authors believe that to the 2% to 5% patients with low-set microtia, this is a good way to make use of remnant ear for the purpose of a real earlobe. PMID:26468806

  15. Treatment of peroneal paralysis with transposition of vastus lateralis muscle in calves.

    PubMed

    Kilic, E; Yayla, S; Aksoy, O; Ozaydin, I; Ermutlu, C Ş

    2014-07-19

    This study aimed to clinically evaluate the results achieved by using tendon transposition to treat postinjection peroneal paralysis in calves. The study material consisted of 23 calves in all of which the clinical history indicated the problem had occurred within 1-3 days of intramuscular injection. Each patient was administered medical treatment for three weeks. After that, a decision was made to perform tendon transposition in all the subjects because their prognosis was estimated to be poor. The owners of five of the calves did not agree to the operation, and so, medical treatment was continued. Following intrathecal anaesthesia, the vastus lateralis muscle was dissected at the insertion, and the musculus (m) extensor (ext) digitalis (dig) longus and m fibularis tertius were dissected at the origin in 18 calves. The tendon ends were joined by using the locking loop suture technique in the 18 calves. Follow-up after two to three months revealed hind limb use in all surgically treated calves, while the medically treated calves had to be slaughtered because of lameness and decubitus. The results of the present study suggest that the peroneal paralysis of calves can be successfully treated by a tendon transposition technique. PMID:24902779

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

    PubMed Central

    Huang, Wei; Zhang, Pei-xun; Peng, Zhang; Xue, Feng; Wang, Tian-bing; Jiang, Bao-guo

    2015-01-01

    Although several surgical procedures exist for treating cubital tunnel syndrome, the best surgical option remains controversial. To evaluate the efficacy of anterior subcutaneous transposition of the ulnar nerve in patients with moderate to severe cubital tunnel syndrome and to analyze prognostic factors, we retrospectively reviewed 62 patients (65 elbows) diagnosed with cubital tunnel syndrome who underwent anterior subcutaneous transposition. Preoperatively, the initial severity of the disease was evaluated using the McGowan scale as modified by Goldberg: 18 patients (28%) had grade IIA neuropathy, 20 (31%) had grade IIB, and 27 (42%) had grade III. Postoperatively, according to the Wilson & Krout criteria, treatment outcomes were excellent in 38 patients (58%), good in 16 (25%), fair in 7 (11%), and poor in 4 (6%), with an excellent and good rate of 83%. A negative correlation was found between the preoperative McGowan grade and the postoperative Wilson & Krout score. The patients having fair and poor treatment outcomes had more advanced age, lower nerve conduction velocity, and lower action potential amplitude compared with those having excellent and good treatment outcomes. These results suggest that anterior subcutaneous transposition of the ulnar nerve is effective and safe for the treatment of moderate to severe cubital tunnel syndrome, and initial severity, advancing age, and electrophysiological parameters can affect treatment outcome. PMID:26692871

  17. Laparoscopic ovarian transposition prior to pelvic irradiation in a young female patient with advanced rectal cancer.

    PubMed

    Kihara, Kyoichi; Yamamoto, Seiichiro; Ohshiro, Taihei; Fujita, Shin

    2015-12-01

    In the report, we describe the first case of laparoscopic ovarian transposition prior to pelvic radio-chemo therapy in a young female patient with advanced rectal cancer in Japan. A 14-year-old female visited a hospital because of consistent diarrhea and melena. Colonoscopy examination showed a bulky tumor of the rectum, which was diagnosed as moderately to poorly differentiated adenocarcinoma. The diagnosis was cT3N2aM1a (due to lymph node in pelvic side wall), cStage IVA. In an attempt to improve local control and sphincter preservation, neoadjuvant concurrent radio-chemo therapy was planned. Considering that pelvic irradiation particularly in young female might cause ovarian failure, laparoscopic ovarian transposition was carried out prior to pelvic irradiation. Sequentially the patient underwent low anterior resection of the rectum and lymphadenectomy including pelvic side wall. The menstruation was maintained with delay for 6 months after adjuvant chemotherapy. There is no evidence of cancer recurrence at 3 years after the surgery.In premenopausal patients with rectal cancer undergoing pelvic irradiation, laparoscopic ovarian transposition is one of the choices to prevent ovarian failure. PMID:26943437

  18. Correction of Excyclotropia by Surgery on the Inferior Rectus Muscle in Patients with Thyroid Eye Disease: A Retrospective, Observational Study

    PubMed Central

    Takahashi, Yasuhiro; Kitaguchi, Yoshiyuki; Nakakura, Shunsuke; Mito, Hidenori; Kimura, Akiko; Kakizaki, Hirohiko

    2016-01-01

    Purpose To examine the characteristics of excyclotropia correction through surgery on the inferior rectus muscle in patients with thyroid eye disease. Methods This was a retrospective, observational study at a single institution. We reviewed 36 patients who had undergone unilateral inferior rectus muscle recession, with or without nasal inferior rectus muscle transposition. The following factors were investigated as possibly influencing excyclotropia correction: inferior rectus muscle thickness, degree of adipose change in the inferior rectus muscle, smoking status, history of orbital radiotherapy, and the amount of inferior rectus muscle recession. Using T1-weighted coronal magnetic resonance imaging, we measured the cross-sectional area of the inferior rectus muscle at its largest point, as well as the bright-signal area of the inferior rectus muscle, which reflects intermuscular adipose change. We then calculated the percentage internal bright-signal area at the point of the largest inferior rectus muscle cross-sectional area. The history of orbital radiotherapy was graded using a binary system. We evaluated correlations among excyclotropia correction, the amount of nasal inferior rectus muscle transposition, and the possible influencing factors listed, using stepwise multiple regression analyses. Results The multiple regression model demonstrated a significant relationship among excyclotropia correction, amount of nasal inferior rectus muscle transposition, and the amount of inferior rectus muscle recession (YCORRECTION = 8.546XTENDON WIDTH + 0.405XRECESSION− 0.908; r = 0.844; adjusted r2 = 0.695; P < 0.001). Conclusions Excyclotropia correction was correlated with the amount of nasal inferior rectus muscle transposition and the amount of inferior rectus muscle recession, but not with the other factors. The regression model presented in this study will enable us to determine more precisely the amount of nasal inferior rectus muscle transposition in patients

  19. Computerized screening of children congenital heart diseases.

    PubMed

    Sepehri, Amir A; Hancq, Joel; Dutoit, Thierry; Gharehbaghi, Arash; Kocharian, Armen; Kiani, A

    2008-11-01

    In this paper, we propose a method for automated screening of congenital heart diseases in children through heart sound analysis techniques. Our method relies on categorizing the pathological murmurs based on the heart sections initiating them. We show that these pathelogical murmur categories can be identified by examining the heart sound energy over specific frequency bands, which we call, Arash-Bands. To specify the Arash-Band for a category, we evaluate the energy of the heart sound over all possible frequency bands. The Arash-Band is the frequency band that provides the lowest error in clustering the instances of that category against the normal ones. The energy content of the Arash-Bands for different categories constitue a feature vector that is suitable for classification using a neural network. In order to train, and to evaluate the performance of the proposed method, we use a training data-bank, as well as a test data-bank, collectively consisting of ninety samples (normal and abnormal). Our results show that in more than 94% of cases, our method correctly identifies children with congenital heart diseases. This percentage improves to 100%, when we use the Jack-Knife validation method over all the 90 samples. PMID:18718691

  20. [Congenital lumbar hernia].

    PubMed

    Peláez Mata, D J; Alvarez Muñoz, V; Fernández Jiménez, I; García Crespo, J M; Teixidor de Otto, J L

    1998-07-01

    Hernias in the lumbar region are abdominal wall defects that appear in two possible locations: the superior lumbar triangle of Grynfelt-Lesshaft and the inferior lumbar triangle of Petit. There are 40 cases reported in the pediatric literature, and only 16 are considered congenital, associated with the lumbocostovertebral syndrome and/or meningomyelocele. A new case is presented. A premature newborn with a mass in the left flank that increases when the patient cries and reduces easily. The complementary studies confirm the diagnosis of lumbar hernia and reveal the presence of lumbocostovertebral syndrome associated. At the time of operation a well defined fascial defect at the superior lumbar triangle of Grynfelt-Lesshaft is primarily closed. The diagnosis of lumbar hernia is not difficult to establish but it is necessary the screening of the lumbocostovertebral syndrome. We recommend the surgical treatment before 12 months of age; the objective is to close the defect primarily or to use prosthetic material if necessary. PMID:12602034

  1. [Congenital Esophageal Atresia].

    PubMed

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

    In this report, we describe the esophageal atresia in terms of current surgical management on the basis of our experience and literatures. Traditionally, infants with esophageal atresia have presented shortly after birth because of an inability to pass an orogastric tube, respiratory distress, or an inability to tolerate feeding. And also, an isolated trachea-esophageal fistula (TEF) usually cases coughing, recurrent pneumonia, or choking during feedings. To ignore these symptoms is to risk a delayed diagnosis. The condition may be associated with other major congenital anomalies such as those seen in the vertebral, anal, cardiac, tracheo-esophageal, renal/radial (VACTER) association, or it may be an isolated defect. Therapeutic strategies for esophageal atresia are a prevention of pulmonary complication by TEF closing and an early establishment of enteral alimentation. We promptly repair healthy infants without performing a gastrostomy and delay repair in infants with high-risk factors such as associated severe cardiac anomaly and respiratory insufficiency. Esophageal atresia has been classically approached through a thoracotomy. The disadvantages of such a thoracotomy have been recognized for a long time, for example winged scapula, elevation of fixation of shoulder, asymmetry of the chest wall, rib fusion, scoliosis, and breast and pectoral muscle maldevelopment. To avoid such disadvantages, thoracoscopic repair was recently reported. PMID:26197921

  2. Congenital Triangular Alopecia.

    PubMed

    Yin Li, Vincent Chum; Yesudian, Paul Devakar

    2015-01-01

    Congenital triangular alopecia (CTA) also known as temporal triangular alopecia is a benign noncicatricial pattern of hair loss. It typically affects the frontotemporal region and rarely involves the temporoparietal or occipital scalp. It is a nonprogressive disorder that presents as a triangular, oval or lancet-shaped patch of alopecia. CTA can manifest at birth or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders such as Down's syndrome and phakomatosis pigmentovascularis. The diagnosis is based on its distinct clinical appearance. Histologically, hair follicles are miniaturized and replaced by sparse vellus hair follicles. Tricoscopy using a polarized light handheld dermatoscope can be a useful diagnostic tool. CTA is often asymptomatic and remains unchanged throughout the life. No treatment is required. Surgical intervention with follicular unit hair transplantation can provide a satisfactory cosmetic result. In this paper, we have identified 126 cases of CTA in the published literature cited on PubMed between 1905 and 2015. From the available evidence, 79% of patients with CTA presented with unilateral hair loss, 18.5% with bilateral involvement and rarely, with occipital alopecia (2.5%). There was no gender predilection. These figures are entirely consistent with previously published data. Physicians should remember to consider CTA as a potential diagnosis in any patient presenting with a nonscarring alopecia in order to avoid unnecessary investigations and treatments. PMID:26180448

  3. Congenital Rhabdomyosarcoma of Shoulder

    PubMed Central

    Khaleghnejad-Tabari, Ahmad; Mirshemirani, Alireza; Rouzrokh, Mohsen; Nariman, Shahin; Hassas-Yeganeh, Shaghayegh; Gharib, Atoosa; Khaleghnejad-Tabari, Nasibeh

    2012-01-01

    A 16-day-old female was referred with congenital swelling on her right shoulder. On examination, there was a hard, round, ecchymotic, nontender, slightly movable, warm and shiny 10x15 cm mass on the right axillary pits which was extended to the right side of neck and chest wall. The mass separated the shoulder from the chest wall causing paralysis of right hand. Chest X-ray, ultrasound and MRI with contrast demonstrated a soft tissue mass suspected to be a hemangioma. The mass rapidly increased in size despite aggressive steroid therapy with rupture and bleeding. On the 45th post natal day the baby was taken to operating room to control the bleeding and if possible total excision of the mass. The mass was separated easily from the surrounding tissue and was excised along with right upper extremity. At the end of surgery the baby had cardiac arrest, and apparently died of Disseminated Intravascular Coagulation (DIC). The final pathology report was Rhabdomyosarcoma (RMS). PMID:25628836

  4. [Congenital foot abnormalities].

    PubMed

    Delpont, M; Lafosse, T; Bachy, M; Mary, P; Alves, A; Vialle, R

    2015-03-01

    The foot may be the site of birth defects. These abnormalities are sometimes suspected prenatally. Final diagnosis depends on clinical examination at birth. These deformations can be simple malpositions: metatarsus adductus, talipes calcaneovalgus and pes supinatus. The prognosis is excellent spontaneously or with a simple orthopedic treatment. Surgery remains outstanding. The use of a pediatric orthopedist will be considered if malposition does not relax after several weeks. Malformations (clubfoot, vertical talus and skew foot) require specialized care early. Clubfoot is characterized by an equine and varus hindfoot, an adducted and supine forefoot, not reducible. Vertical talus combines equine hindfoot and dorsiflexion of the forefoot, which is performed in the midfoot instead of the ankle. Skew foot is suspected when a metatarsus adductus is resistant to conservative treatment. Early treatment is primarily orthopedic at birth. Surgical treatment begins to be considered after walking age. Keep in mind that an abnormality of the foot may be associated with other conditions: malposition with congenital hip, malformations with syndromes, neurological and genetic abnormalities. PMID:25524290

  5. Singing in congenital amusia.

    PubMed

    Dalla Bella, Simone; Giguère, Jean-François; Peretz, Isabelle

    2009-07-01

    Congenital amusia is a musical disorder characterized by impaired pitch perception. To examine to what extent this perceptual pitch deficit may compromise singing, 11 amusic individuals and 11 matched controls were asked to sing a familiar tune with lyrics and on the syllable /la/. Acoustical analysis of sung renditions yielded measures of pitch accuracy (e.g., number of pitch errors) and time accuracy (e.g., number of time errors). The results revealed that 9 out of 11 amusics were poor singers, mostly on the pitch dimension. Poor singers made an anomalously high number of pitch interval and contour errors, produced pitch intervals largely deviating from the score, and lacked pitch stability; however, more than half of the amusics sang in-time. Amusics' variability in singing proficiency was related to their residual pitch perceptual ability. Thus, their singing deficiency might be a consequence of their perceptual deficit. Nevertheless, there were notable exceptions. Two amusic individuals, despite their impoverished perception, sang proficiently. The latter findings are consistent with the existence of separate neural pathways for auditory perception and action. PMID:19603898

  6. [Congenital defects of tibia and fibula].

    PubMed

    de Meulemeester, F R; Verbout, A J

    1988-12-01

    This study comprised 7 patients with longitudinal anomalies of the knee and leg classified in accordance with the 'classification of congenital limb deficiencies' introduced by Frantz and O'Rahilly. The anomalies were paraxial hemimelia of the fibula (4 instances), paraxial hemimelia of the tibia (6 instances). In the absence of the proximal tibia, therapy consisted of knee reconstruction according to Brown. In the absence of the distal part of the tibia a proximal tibiofibular synostosis was performed. In one instance corrective osteotomy of the tibia was required in the absence of the fibula. Exarticulation according to Syme was resorted in order to cope with an incorrigible abnormal position of the foot and for leg length inequality. The therapy should aim at giving the child walking ability at a normal time. Exarticulation has to be preferred to amputation in the treatment of these patients. PMID:3238675

  7. Deringing procedure for congenital pulmonary vein stenosis.

    PubMed Central

    Victor, S; Nayak, V M

    1995-01-01

    We operated on a 14-year-old boy who had an echocardiographic diagnosis of ventricular septal defect. At surgery we found, in addition, an anomalous and obstructive intraventricular muscle bundle. Detection of a continuous thrill over the right pulmonary veins, prior to cardiopulmonary bypass, led to exploration of the left atrium. The ostia of the right superior and inferior pulmonary veins were impeded by circumferential membranous rings of endocardium with central stenotic openings. Excision of these annular rings relieved the obstruction. The left lung was drained by a long intrapericardial common venous channel that entered the left atrium through a stenotic ostium; excision of an annular ridge of endocardium restored normal flow. The patient remains asymptomatic after 23 months. The case is reported for the new deringing technique and the rarity of successful correction of congenital pulmonary vein stenosis. Images PMID:7647600

  8. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.

    PubMed

    Nimkarn, Saroj; Lin-Su, Karen; New, Maria I

    2011-10-01

    Steroid 21 hydroxylase deficiency is the most common form of congenital adrenal hyperplasia (CAH). The severity of this disorder depends on the extent of impaired enzymatic activity, which is caused by various mutations of the 21 hydroxylase gene. This article reviews adrenal steroidogenesis and the pathophysiology of 21 hydroxylase deficiency. The three forms of CAH are then discussed in terms of clinical presentation, diagnosis and treatment, and genetic basis. Prenatal diagnosis and treatment are also reviewed. The goal of therapy is to correct the deficiency in cortisol secretion and suppress androgen overproduction. Glucocorticoid replacement has been the mainstay of treatment for CAH, but new treatment strategies continue to be developed and studied. PMID:21981961

  9. Congenital Cytomegalovirus Infection: Audiologic Outcome

    PubMed Central

    Fowler, Karen B.

    2013-01-01

    The association between congenital cytomegalovirus (CMV) infection and sensorineural hearing loss (SNHL) was first described almost 50 years ago. Studies over the intervening decades have further described the relationship between congenital CMV infection and SNHL in children. However, congenital CMV infection remains a leading cause of SNHL in children in the United States and the world today. As more CMV infections are identified, it is important to recognize that infants who are born to seroimmune mothers are not completely protected from SNHL, although their hearing loss is often milder than that seen in CMV-infected infants following primary maternal infections. Late-onset and progressive hearing losses occur following congenital CMV infection, and CMV-infected infants should be evaluated regularly to provide for early detection of hearing loss and appropriate intervention. Fluctuating hearing loss that is not explained by concurrent middle ear infections is another characteristic of CMV-related hearing loss in children. Challenges still remain in predicting which children with congenital CMV infection will develop hearing loss and, among those who do develop loss, whether or not the loss will continue to deteriorate. PMID:24257423

  10. Congenital Scoliosis (Mini-review).

    PubMed

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered. PMID:26769614

  11. Role of Ovarian Transposition Based on the Dosimetric Effects of Craniospinal Irradiation on the Ovaries: A Case Report

    SciTech Connect

    Mitchell, James D.; Hitchen, Christine; Vlachaki, Maria T.

    2007-10-01

    In this study, we present a case of laparoscopic ovarian transposition to preserve ovarian function in an adult female patient treated with craniospinal irradiation for standard risk medulloblastoma. The prescribed dose to the craniospinal axis was 2340 cGy at 180 cGy per fraction and was delivered with 6-MV photons. Before ovarian transposition, magnetic resonance imaging (MRI) of the pelvis was obtained for localization of the ovaries and was registered with the planning computed tomography (CT) scan. Surgical clips allowed for CT localization of the ovaries after transposition. As a result of ovarian transposition, mean and maximum radiation doses decreased from 983 to 68 cGy and 1624 to 84 cGy for the left ovary and from 166 to 87 cGy and 723 to 103 cGy for the right ovary, respectively. Review of the literature indicates that such radiation doses are below the threshold that causes ovarian dysfunction and infertility. We conclude that ovarian localization with an MRI of the pelvis can be offered to females undergoing craniospinal irradiation. Transposition of the ovaries provides an option to preserve ovarian function in cases where the ovaries would otherwise be included within the radiation field.

  12. Common Tests for Congenital Heart Defects

    MedlinePlus

    ... Heart Defect - Fetal Circulation • Care & Treatment • Tools & Resources Web Booklets on Congenital Heart Defects These online publications ... to you or your child’s defect and concerns. Web Booklet: Adults With Congenital Heart Defects Web Booklet: ...

  13. Genetics Home Reference: congenital dyserythropoietic anemia

    MedlinePlus

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

  14. Care and Treatment for Congenital Heart Defects

    MedlinePlus

    ... Physical Activity Recommendations for Heart Health • Tools & Resources Web Booklets on Congenital Heart Defects These online publications ... to you or your child’s defect and concerns. Web Booklet: Adults With Congenital Heart Defects Web Booklet: ...

  15. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Genetic Counseling for Congenital Heart Defects Updated:Oct 26, ... person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address ...

  16. Understand Your Risk for Congenital Heart Defects

    MedlinePlus

    ... health problems than their parents. Learn more about genetic counseling . Single gene: Rarely, congenital heart defects are caused ... of Congenital Heart Defects • Understand Your Risk Introduction Genetic Counseling • Symptoms & Diagnosis • Care & Treatment • Tools & Resources Related Sites ...

  17. Magnetic resonance imaging of congenital heart disease

    SciTech Connect

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

    1988-01-01

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

  18. [The congenital afibrinogenemia: case report].

    PubMed

    Brahem, Imen; Charfeddine, Bassem; Chraiti, Haythem; Ben Abdallah, Jihene; Ben Othmen, Leila; Neffati, Souhir; Ali Smach, Mohamed; Ltaief, Affef; Ksourri, Monia; Dridi, Hedi; Limem, Khalifa

    2010-01-01

    The deficiency in factor I or fibrinogen is a largely unknown genetic disease. It is a rare condition inherited as an autosomal recessive, whose clinical events are variable, ranging from moderate to minimal bleeding or cataclysmic hemorrhage. We report a case of congenital afibrinogenemia in a 17 years-old patient hospitalized in surgical ICU for hemoperitoneum medium abundance discovered by abdominal ultrasound performed before a picture of abdominopelvic pain lasting for 24 hours. Exploration led to the diagnosis of congenital afibrinogenemia with favorable evolution with a contribution of factor deficient. Through this case we raise the problem of congenital afibrinogenemia in diagnosis and the peculiarities of its management. PMID:20870582

  19. Paternal transmission of congenital myotonic dystrophy.

    PubMed Central

    Bergoffen, J; Kant, J; Sladky, J; McDonald-McGinn, D; Zackai, E H; Fischbeck, K H

    1994-01-01

    The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors related to the disease. The possibility of paternal transmission of the congenital form of myotonic dystrophy could be considered when counselling myotonic dystrophy patients and their families. Images PMID:7966187

  20. Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.

    PubMed

    Sprecher, E; Tesfaye-Kedjela, A; Ratajczak, P; Bergman, R; Richard, G

    2004-09-01

    The congenital erythrodermas represent a heterogeneous group of inherited and acquired disorders often accompanied by systemic infections, impaired epidermal barrier function and concomitant life-threatening fluid and electrolyte imbalance. In the present report, we describe a patient who was considered to have congenital ichthyosiform erythroderma for 26 years until molecular testing led to the correct diagnosis of Netherton syndrome. PMID:15347338

  1. Superior rectus transposition combined with medial rectus recession for Duane syndrome and sixth nerve palsy

    PubMed Central

    Mehendale, Reshma A.; Dagi, Linda R.; Wu, Carolyn; Ledoux, Danielle; Johnston, Suzanne; Hunter, David G.

    2013-01-01

    Objective Vertical rectus transposition (VRT) is used to treat abduction limitation, but new vertical deviations and anterior segment ischemia are concerns. Johnston and Crouch described superior rectus transposition (SRT), a procedure in which only the superior rectus muscle is transposed temporally. We describe our results using augmented temporal SRT with adjustable medial rectus muscle recession (MRc) for treatment of Duane syndrome I (DS) and sixth nerve palsy. Methods Retrospective surgical case review of patients undergoing the SRT procedure. Pre- and post-operative orthoptic measurements were recorded. Minimum follow-up was 6 weeks. Main outcome measures included angle of esotropia in primary position and the angle of head turn. Secondary outcomes included duction limitation, stereopsis, and new vertical deviations. Results The review identified seventeen patients (10 with DS and 7 with sixth nerve palsy). SRT+MRc improved esotropia [from 44 PD to 10.1 PD (p< 0.0001)], reduced abduction limitation [from −4.3 to −2.7 (p<0.0001)] and improved compensatory head posture [from 28°to 4° (p<0.0001)]. Stereopsis was recovered in eight patients (p=0.03). Three patients required a reoperation; one for overcorrection and 2 for undercorrection. A new primary position vertical deviation was observed in 2/7 patients with complex sixth nerve palsy and 0/10 DS patients. No patient described torsional diplopia. Conclusions SRT allows for the option of simultaneous medial rectus recession in patients with severe abduction imitation who require transposition surgery. SRT+MRc improved esotropia, head position, abduction limitation, and stereopsis without inducing torsional diplopia. PMID:22332212

  2. Transpositional reactivation of two LTR retrotransposons in rice-Zizania recombinant inbred lines (RILs).

    PubMed

    Wang, Hong-Yan; Tian, Qin; Ma, Yi-Qiao; Wu, Ying; Miao, Gao-Jian; Ma, Yan; Cao, Dong-Hui; Wang, Xiao-Li; Lin, Chunjing; Pang, Jingsong; Liu, Bao

    2010-12-01

    Hybridization is prevalent in plants, which plays important roles in genome evolution. Apart from direct transfer and recombinatory generation of genetic variations by hybridization, de novo genetic instabilities can be induced by the process per se. One mechanism by which such de novo genetic variability can be generated by interspecific hybridization is transpositional reactivation of quiescent parental transposable elements (TEs) in the nascent hybrids. We have reported previously that introgressive hybridization between rice (Oryza sativa L.) and Zizania latifolia Griseb had induced rampant mobilization of three TEs, a copia-like LTR retrotransposon Tos17, a MITE mPing and a class II TE belonging to the hAT superfamily, Dart/nDart. In this study, we further found that two additional LTR retrotransposons, a gypsy-like (named RIRE2) and a copia-like (named Copia076), were also transpositionally reactivated in three recombinant inbred lines (RILs) derived from introgressive hybridization between rice and Z. latifolia. Novel bands of these two retroelements appeared in the RILs relative to their rice parental line (cv. Matsumae) in Southern blot, suggestive of retrotransposition, which was substantiated by transposon display (TD) and locus-specific PCR amplification for insertion sites. Both elements were found to be transcribed but at variable levels in the leaf tissue of the parental line and the RILs, suggesting that transcriptional control was probably not a mechanism for their transpositional activity in the RILs. Expression analysis of four genes adjacent to de novo insertions by Copia076 revealed marked difference in the transcript abundance for each of the genes between the RILs and their rice parental line, but the alterations in expression appeared unrelated with the retroelement insertions. PMID:21166796

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

    PubMed Central

    Cao, Hongwen; Gao, Min; Yan, Hongmei

    2016-01-01

    The attentional blink (AB) is the phenomenon in which the identification of the second of two targets (T2) is attenuated if it is presented less than 500 ms after the first target (T1). Although the AB is eliminated in canonical word conditions, it remains unclear whether the character order in compound words affects the magnitude of the AB. Morpheme decomposition and transposition of Chinese two-character compound words can provide an effective means to examine AB priming and to assess combinations of the component representations inherent to visual word identification. In the present study, we examined the processing of consecutive targets in a rapid serial visual presentation (RSVP) paradigm using Chinese two-character compound words in which the two characters were transposed to form meaningful words or meaningless combinations (reversible, transposed, or canonical words). We found that when two Chinese characters that form a compound word, regardless of their order, are presented in an RSVP sequence, the likelihood of an AB for the second character is greatly reduced or eliminated compared to when the two characters constitute separate words rather than a compound word. Moreover, the order of the report for the two characters is more likely to be reversed when the normal order of the two characters in a compound word is reversed, especially when the interval between the presentation of the two characters is extremely short. These findings are more consistent with the cognitive strategy hypothesis than the resource-limited hypothesis during character decomposition and transposition of Chinese two-character compound words. These results suggest that compound characters are perceived as a unit, rather than two separate words. The data further suggest that readers could easily understand the text with character transpositions in compound words during Chinese reading. PMID:27379003

  4. Mechanism of Is1 Transposition in E. COLI: Choice between Simple Insertion and Cointegration

    PubMed Central

    Biel, Susan W.; Berg, Douglas E.

    1984-01-01

    Insertion element IS1 and IS1-based transposon Tn9 generate cointegrates (containing vector and target DNAs joined by duplicate copies of IS1 or Tn9) and simple insertions (containing IS1 or Tn9 detached from vector sequences). Based on studies of transposon Tn5 we had proposed a conservative (non-replicative) model for simple insertion. Others had proposed that all transposition is replicative, occurring in a rolling circle structure, and that the way DNA strands are joined when replication terminates determines whether a simple insertion or a cointegrate is formed.—We selected for the transposition of amp and cam resistance markers from pBR322::Tn9 plasmids to an F factor in recA- E. coli and identified products containing three and four copies of IS1, corresponding to true cointegrates (from monomeric plasmids), and simple insertions (from dimeric plasmids). The simple insertions with four copies of IS1 outnumbered those with three by a ratio of about 3:1, whereas true cointegrates containing three copies of IS1 were more numerous than those with four.—A straightforward rolling circle model had predicted that the simple insertions containing three copies of IS1 should be more frequent than those with four. Because we obtained the opposite result we propose that simple insertions only arise when the element fails to replicate or if replication starts but then terminates prematurely. The two classes of products, simple insertions and cointegrates, reflect alternative conservative and replicative fates, respectively, of an early intermediate in transposition. PMID:6094304

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

    PubMed

    Cao, Hongwen; Gao, Min; Yan, Hongmei

    2016-01-01

    The attentional blink (AB) is the phenomenon in which the identification of the second of two targets (T2) is attenuated if it is presented less than 500 ms after the first target (T1). Although the AB is eliminated in canonical word conditions, it remains unclear whether the character order in compound words affects the magnitude of the AB. Morpheme decomposition and transposition of Chinese two-character compound words can provide an effective means to examine AB priming and to assess combinations of the component representations inherent to visual word identification. In the present study, we examined the processing of consecutive targets in a rapid serial visual presentation (RSVP) paradigm using Chinese two-character compound words in which the two characters were transposed to form meaningful words or meaningless combinations (reversible, transposed, or canonical words). We found that when two Chinese characters that form a compound word, regardless of their order, are presented in an RSVP sequence, the likelihood of an AB for the second character is greatly reduced or eliminated compared to when the two characters constitute separate words rather than a compound word. Moreover, the order of the report for the two characters is more likely to be reversed when the normal order of the two characters in a compound word is reversed, especially when the interval between the presentation of the two characters is extremely short. These findings are more consistent with the cognitive strategy hypothesis than the resource-limited hypothesis during character decomposition and transposition of Chinese two-character compound words. These results suggest that compound characters are perceived as a unit, rather than two separate words. The data further suggest that readers could easily understand the text with character transpositions in compound words during Chinese reading. PMID:27379003

  6. Assessment of operability of patients with pulmonary arterial hypertension associated with congenital heart disease.

    PubMed

    Myers, Patrick O; Tissot, Cécile; Beghetti, Maurice

    2014-01-01

    Pulmonary arterial hypertension (PAH) is a common complication of congenital heart disease, and is now predominantly among patients with uncorrected left-to-right shunts. A growing population is characterized by persistent or recurrent PAH after surgical or interventional correction of left-to-right shunts; the latter having a worse prognosis than other forms of PAH associated with congenital heart disease. New treatments for PAH have been shown to be effective in improving PAH exercise capacity and hemodynamics, raising the hope for making previously inoperable congenital heart defects operable and shifting the framework for the assessment of operability. This review focuses on current methods for assessing operability in PAH associated with congenital heart disease, and the possibility of "treat-and-repair" vs. "repair-and-treat" strategies for patients with inoperable or borderline PAH. PMID:24225339

  7. Congenitally persistent left superior vena cava: a possible unpleasant problem during invasive procedures.

    PubMed

    Rigatelli, Gianluca

    2007-07-01

    The persistence of the left superior vena cava is the most common thoracic vein anomaly, but, nevertheless, it continues to be an unpleasant finding during invasive diagnostic cardiovascular procedures and is sometimes a challenge during invasive therapeutic interventions. Persistent left superior vena cava usually occurs in 0.5% of the normal population and 0.47% of patients undergoing pacemaker or implantable cardioverter defibrillator implantation. The incidence in congenital heart disease varies (2-5%), and it is more frequent in stenosis or pulmonary atresia, D-transposition, complete atrioventricular septal defects, and anomalous pulmonary vein drainage. The diagnosis is almost always incidental, during anaesthesiological procedures such as central vein placement, or diagnostic cardiovascular procedures, such as right heart catheterization, but it may sometimes be discovered during therapeutic paediatric cardiac catheterization, such as during patent foramen ovale or atrial septal defect transcatheter closure. Echocardiography is useful to identify patients in whom computed tomography and especially magnetic resonance imaging may pose a definitive diagnosis. In indicated cases, when cyanosis is present and the anomaly is isolated, treatment options include surgical ligation and transcatheter closure using large occluder devices, whereas more challenging surgical repairs are needed when the anomaly is associated with other complex congenital heart diseases. Different specialists at different levels such as anaesthesiologists, invasive cardiologists, electrophysiologists and cardiac surgeons should be aware of the variety of technical problems that may be caused by a persistent LSVC. PMID:17568279

  8. Congenital granular-cell myoblastoma.

    PubMed

    Cussen, L J; MacMahon, R A

    1975-04-01

    The clinical and pathologic features of congenital granular-cell myoblastoma in five infant girls are reported. One lesion, treated expectantly, progressively decreased in size and after 3 yr and 9 mo could not be detected, while two lesions which were imcompletely excised did not recur. It is suggested that congenital granular-cell myoblastoma is caused by an intrauterine stimulus, and that this stimulus may possible be production of estrogen by the fetus. Congential granular-cell myoblastoma should be treated expectantly or by limited excision, and has an excellent prognosis. PMID:164527

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

    PubMed

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia. PMID:17650728

  10. Transposition of the Endogenous Insertion Sequence Element IS1126 Modulates Gingipain Expression in Porphyromonas gingivalis

    PubMed Central

    Simpson, Waltena; Wang, Chin-Yen; Mikolajczyk-Pawlinska, Jowita; Potempa, Jan; Travis, James; Bond, Vincent C.; Genco, Caroline Attardo

    1999-01-01

    We have previously reported on a Tn4351-generated mutant of Porphyromonas gingivalis (MSM-3) which expresses enhanced arginine-specific proteinase activity and does not utilize hemin or hemoglobin for growth (C. A. Genco et al., Infect. Immun. 63:2459–2466, 1995). In the process of characterizing the genetic lesion in P. gingivalis MSM-3, we have determined that the endogenous P. gingivalis insertion sequence element IS1126 is capable of transposition within P. gingivalis. We have also determined that IS1126 transposition modulates the transcription of the genes encoding the lysine-specific proteinase, gingipain K (kgp) and the arginine-specific proteinase, gingipain R2 (rgpB). Sequence analysis of P. gingivalis MSM-3 revealed that Tn4351 had inserted 60 bp upstream of the P. gingivalis endogenous IS element IS1126. Furthermore, P. gingivalis MSM-3 exhibited two additional copies of IS1126 compared to the parental strain A7436. Examination of the first additional IS1126 element, IS11261, indicated that it has inserted into the putative promoter region of the P. gingivalis kgp gene. Analysis of total RNA extracted from P. gingivalis MSM-3 demonstrated no detectable kgp transcript; likewise, P. gingivalis MSM-3 was devoid of lysine-specific proteinase activity. The increased arginine-specific proteinase activity exhibited by P. gingivalis MSM-3 was demonstrated to correlate with an increase in the rgpA and rgpB transcripts. The second additional IS1126 element, IS11262, was found to have inserted upstream of a newly identified gene, hmuR, which exhibits homology to a number of TonB-dependent genes involved in hemin and iron acquisition. Analysis of total RNA from P. gingivalis MSM-3 demonstrated that hmuR is transcribed, indicating that the insertion of IS1126 had not produced a polar effect on hmuR transcription. The hemin-hemoglobin defect in P. gingivalis MSM-3 is proposed to result from the inactivation of Kgp, which has recently been demonstrated to function

  11. Aortopulmonary window: a rare mechanism of inter-circulatory mixing and prepared left ventricle in transposition of the great arteries with intact ventricular septum.

    PubMed

    Gopalan Nair, Rajesh; Kalathingathodika, Sajeer; Bastian, Cicy

    2014-08-01

    Transposition of the great arteries with intact ventricular septum and aortopulmonary window is an extremely rare anatomic combination associated with high morbidity and mortality. We report a case of a 3-month-old baby with d-transposition of the great arteries with intact ventricular septum and a large aortopulmonary window as a mechanism of inter-circulatory mixing. PMID:24020981

  12. Virion-associated cofactor high-mobility group DNA-binding protein-1 facilitates transposition from the herpes simplex virus/Sleeping Beauty amplicon vector platform.

    PubMed

    de Silva, Suresh; Lotta, Louis T; Burris, Clark A; Bowers, William J

    2010-11-01

    The development of the integration-competent, herpes simplex virus/Sleeping Beauty (HSV/SB) amplicon vector platform has created a means to efficiently and stably deliver therapeutic transcription units (termed "transgenons") to neurons within the mammalian brain. Furthermore, an investigation into the transposition capacity of the HSV/SB vector system revealed that the amplicon genome provides an optimal substrate for the transposition of transgenons at least 12 kb in length [de Silva, S., Mastrangelo, M.A., Lotta, L.T., Jr., Burris, C.A., Federoff, H.J., and Bowers, W.J. ( 2010 ). Gene Ther. 17, 424-431]. These results prompted an investigation into the factors that may contribute toward efficient transposition from the HSV/SB amplicon. One of the cellular cofactors known to play a key role during SB-mediated transposition is the high-mobility group DNA-binding protein-1 (HMGB1). Our present investigation into the role of HMGB1 during amplicon-based transposition revealed that transposition is not strictly dependent on the presence of cellular HMGB1, contrary to what had been previously demonstrated with plasmid-based SB transposition. We have shown for the first time that during amplicon preparation, biologically active HMGB1 derived from the packaging cell line is copackaged into amplicon vector particles. As a result, HSV/SB amplicon virions arrive prearmed with HMGB1 protein at levels sufficient for facilitating SB-mediated transposition in the transduced mammalian cell. PMID:20568967

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

    PubMed

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

    2016-05-01

    Transposition of mitochondrial DNA into the nucleus, which gives rise to nuclear mitochondrial DNAs (NUMTs), has been well documented in eukaryotes. However, very few studies have assessed the frequency of these transpositions during the evolutionary history of a specific taxonomic group. Here we used the horseshoe bats (Rhinolophus) as a case study to determine the frequency and relative timing of nuclear transfers of mitochondrial control region sequences. For this, phylogenetic and coalescent analyzes were performed on NUMTs and authentic mtDNA sequences generated from eight horseshoe bat species. Our results suggest at least three independent transpositions, including two ancient and one more recent, during the evolutionary history of Rhinolophus. The two ancient transpositions are represented by the NUMT-1 and -2 clades, with each clade consisting of NUMTs from almost all studied species but originating from different portions of the mtDNA genome. Furthermore, estimates of the most recent common ancestor for each clade corresponded to the time of the initial diversification of this genus. The recent transposition is represented by NUMT-3, which was discovered only in a specific subgroup of Rhinolophus and exhibited a close relationship to its mitochondrial counterpart. Our similarity searches of mtDNA in the R. ferrumequinum genome confirmed the presence of NUMT-1 and NUMT-2 clade sequences and, for the first time, assessed the extent of NUMTs in a bat genome. To our knowledge, this is the first study to report on the frequency of transpositions of mtDNA occurring before the common ancestry of a genus. PMID:26809101

  14. Development of advanced pulmonary vascular disease in D-transposition of the great arteries after the neonatal arterial switch operation.

    PubMed Central

    Rivenes, S M; Grifka, R G; Feltes, T F

    1998-01-01

    We report the case of a neonate with D-transposition of the great arteries who, after undergoing an uneventful arterial switch operation at the age of 4 days, was found at the age of 42 months to have developed advanced pulmonary vascular disease. Because the arterial switch operation was performed when our patient was only 4 days old, this case challenges the hypothesis that postnatal hemodynamics alone dictate the development of advanced pulmonary vascular disease in infants and children with transposition of the great arteries. Images PMID:9782561

  15. The Phenotypic Spectrum of ZIC3 Mutations Includes Isolated d-Transposition of the Great Arteries and Double Outlet Right Ventricle

    PubMed Central

    D’Alessandro, Lisa C. A.; Latney, Brande C.; Paluru, Prasuna C.; Goldmuntz, Elizabeth

    2013-01-01

    Disease causing mutations for heterotaxy syndrome were first identified in the X-linked laterality gene, ZIC3. Mutations typically result in males with situs ambiguus and complex congenital heart disease; however affected females and one male with isolated d-transposition of the great arteries (d-TGA) have been reported. We hypothesized that a subset of patients with heart defects common to heterotaxy but without laterality defects would have ZIC3 mutations. We also sought to estimate the prevalence of ZIC3 mutations in sporadic heterotaxy. Patients with TGA (n=169), double outlet right ventricle (DORV) (n=89), common atrioventricular canal (CAVC) (n= 41) and heterotaxy (n=54) underwent sequencing of ZIC3 exons. We tested 90 patients with tetralogy of Fallot (TOF) to correlate genotype with phenotype. Three potentially disease-related missense mutations were detected: c.49G>T (Gly17Cys) in a female with isolated DORV, c.98C>T (Ala33Val) in a male with isolated d-TGA, and c.841C>T (His281Tyr) in a female with sporadic heterotaxy. We also identified a novel insertion (CPFP333ins) in a family with heterotaxy. All were absent in 200 control patients and the 1000 Genomes Project (n = 629). No significant mutations were found in patients with TOF. Functional studies demonstrated reduced transcriptional activity of the ZIC3 His281Tyr mutant protein. ZIC3 mutations were rarely identified in isolated DORV and d-TGA suggesting that a subset of DORV and d-TGA may fall within the spectrum of laterality defects. ZIC3 mutations were found in 3.7% of patients with sporadic heterotaxy; therefore testing should be considered in patients with heterotaxy. PMID:23427188

  16. Perineal Groove: A Rare Congenital Midline Defect of Perineum

    PubMed Central

    Harsono, Mimily; Pourcyrous, Massroor

    2015-01-01

    Perineal groove is a rare congenital malformation that is characterized by an exposed wet sulcus with nonkeratinized mucous membrane that extends from the posterior vaginal fourchette to the anterior ridge of the anal orifice. This condition is one of the uncommon anomalies of urogenital/anogenital region that is unknown to many clinicians. Although, this condition may be self-resolved before the age of 2 years, this nonepithelized mucous membrane can pose the risk of local irritation and infection, urinary tract infection, and the possibility of nonself-resolved condition that eventually needs surgical correction. Only a few reported cases (n = 23) were found in current medical literatures. This lesion could be misdiagnosed as contact dermatitis, trauma, or even sexual abuse. Therefore, recognition of the congenital perineal groove at birth is important for the health care providers to deliver an appropriate parental counseling and appropriate follow-up. PMID:26929866

  17. Perineal Groove: A Rare Congenital Midline Defect of Perineum.

    PubMed

    Harsono, Mimily; Pourcyrous, Massroor

    2016-03-01

    Perineal groove is a rare congenital malformation that is characterized by an exposed wet sulcus with nonkeratinized mucous membrane that extends from the posterior vaginal fourchette to the anterior ridge of the anal orifice. This condition is one of the uncommon anomalies of urogenital/anogenital region that is unknown to many clinicians. Although, this condition may be self-resolved before the age of 2 years, this nonepithelized mucous membrane can pose the risk of local irritation and infection, urinary tract infection, and the possibility of nonself-resolved condition that eventually needs surgical correction. Only a few reported cases (n = 23) were found in current medical literatures. This lesion could be misdiagnosed as contact dermatitis, trauma, or even sexual abuse. Therefore, recognition of the congenital perineal groove at birth is important for the health care providers to deliver an appropriate parental counseling and appropriate follow-up. PMID:26929866

  18. Health in adults with congenital heart disease.

    PubMed

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

    2016-09-01

    Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many adults with congenital heart disease encounter late complications. Late morbidity can be related to the congenital heart defect itself, but may also be the consequence of the surgical or medical treatment or longstanding alterations in hemodynamics, neurodevelopment and psychosocial development. This narrative review describes the cardiac and non-cardiac long-term morbidity in the adult population with congenital heart disease. PMID:27451323

  19. Experimental model of congenital syphilis.

    PubMed Central

    Kajdacsy-Balla, A; Howeedy, A; Bagasra, O

    1993-01-01

    Female LSH hamsters infected with Treponema pallidum subsp, endemicum before pregnancy or during early pregnancy transmit a form of syphilis to the fetus that is similar to human congenital syphilis. The offspring develops rhinitis, skin rash, failure to thrive, and hepatosplenomegaly. T. pallidum is detectable in their livers, spleens, and nasal secretions. Immunoglobulin M antibodies are detected in the serum. Images PMID:8335390

  20. Congenital Chagas disease: an update

    PubMed Central

    Carlier, Yves; Sosa-Estani, Sergio; Luquetti, Alejandro O; Buekens, Pierre

    2015-01-01

    Congenital infection with Trypanosoma cruzi is a global problem, occurring on average in 5% of children born from chronically infected mothers in endemic areas, with variations depending on the region. This presentation aims to focus on and update epidemiological data, research methods, involved factors, control strategy and possible prevention of congenital infection with T. cruzi. Considering that etiological treatment of the child is always effective if performed before one year of age, the diagnosis of infection in pregnant women and their newborns has to become the standard of care and integrated into the surveillance programs of syphilis and human immunodeficiency virus. In addition to the standard tests, polymerase chain reaction performed on blood of neonates of infected mothers one month after birth might improve the diagnosis of congenital infection. Recent data bring out that its transmission can be prevented through treatment of infected women before they become pregnant. The role of parasite genotypes and host genetic factors in parasite transmission and development of infection in foetuses/neonates has to be more investigated in order to better estimate the risk factors and impact on health of congenital infection with T. cruzi. PMID:25760448

  1. Multiple independent transpositions of mitochondrial DNA control region sequences to the nucleus.

    PubMed

    Sorenson, M D; Fleischer, R C

    1996-12-24

    Transpositions of mtDNA sequences to the nuclear genome have been documented in a wide variety of individual taxa, but little is known about their taxonomic frequency or patterns of variation. We provide evidence of nuclear sequences homologous to the mtDNA control region in seven species of diving ducks (tribe Aythyini). Phylogenetic analysis places each nuclear sequence as a close relative of the mtDNA haplotypes of the specie(s) in which it occurs, indicating that they derive from six independent transposition events, all occurring within the last approximately 1.5 million years. Relative-rate tests and comparison of intraspecific variation in nuclear and mtDNA sequences confirm the expectation of a greatly reduced rate of evolution in the nuclear copies. By representing mtDNA haplotypes from ancestral populations, nuclear insertions may be valuable in some phylogenetic analyses, but they also confound the accurate determination of mtDNA sequences. In particular, our data suggest that the presumably nonfunctional but more slowly evolving nuclear sequences often will not be identifiable by changes incompatible with function and may be preferentially amplified by PCR primers based on mtDNA sequences from related taxa. PMID:8986794

  2. Zinc-Induced Transposition of Insertion Sequence Elements Contributes to Increased Adaptability of Cupriavidus metallidurans.

    PubMed

    Vandecraen, Joachim; Monsieurs, Pieter; Mergeay, Max; Leys, Natalie; Aertsen, Abram; Van Houdt, Rob

    2016-01-01

    Bacteria can respond to adverse environments by increasing their genomic variability and subsequently facilitating adaptive evolution. To demonstrate this, the contribution of Insertion Sequence (IS) elements to the genetic adaptation of Cupriavidus metallidurans AE126 to toxic zinc concentrations was determined. This derivative of type strain CH34, devoid of its main zinc resistance determinant, is still able to increase its zinc resistance level. Specifically, upon plating on medium supplemented with a toxic zinc concentration, resistant variants arose in which a compromised cnrYX regulatory locus caused derepression of CnrH sigma factor activity and concomitant induction of the corresponding RND-driven cnrCBA efflux system. Late-occurring zinc resistant variants likely arose in response to the selective conditions, as they were enriched in cnrYX disruptions caused by specific IS elements whose transposase expression was found to be zinc-responsive. Interestingly, deletion of cnrH, and consequently the CnrH-dependent adaptation potential, still enabled adaptation by transposition of IS elements (ISRme5 and IS1086) that provided outward-directed promoters driving cnrCBAT transcription. Finally, adaptation to zinc by IS reshuffling can also enhance the adaptation to subsequent environmental challenges. Thus, transposition of IS elements can be induced by stress conditions and play a multifaceted, pivotal role in the adaptation to these and subsequent stress conditions. PMID:27047473

  3. Zinc-Induced Transposition of Insertion Sequence Elements Contributes to Increased Adaptability of Cupriavidus metallidurans

    PubMed Central

    Vandecraen, Joachim; Monsieurs, Pieter; Mergeay, Max; Leys, Natalie; Aertsen, Abram; Van Houdt, Rob

    2016-01-01

    Bacteria can respond to adverse environments by increasing their genomic variability and subsequently facilitating adaptive evolution. To demonstrate this, the contribution of Insertion Sequence (IS) elements to the genetic adaptation of Cupriavidus metallidurans AE126 to toxic zinc concentrations was determined. This derivative of type strain CH34, devoid of its main zinc resistance determinant, is still able to increase its zinc resistance level. Specifically, upon plating on medium supplemented with a toxic zinc concentration, resistant variants arose in which a compromised cnrYX regulatory locus caused derepression of CnrH sigma factor activity and concomitant induction of the corresponding RND-driven cnrCBA efflux system. Late-occurring zinc resistant variants likely arose in response to the selective conditions, as they were enriched in cnrYX disruptions caused by specific IS elements whose transposase expression was found to be zinc-responsive. Interestingly, deletion of cnrH, and consequently the CnrH-dependent adaptation potential, still enabled adaptation by transposition of IS elements (ISRme5 and IS1086) that provided outward-directed promoters driving cnrCBAT transcription. Finally, adaptation to zinc by IS reshuffling can also enhance the adaptation to subsequent environmental challenges. Thus, transposition of IS elements can be induced by stress conditions and play a multifaceted, pivotal role in the adaptation to these and subsequent stress conditions. PMID:27047473

  4. Insertional Mutagenesis of the Maize P Gene by Intragenic Transposition of Ac

    PubMed Central

    Athma, P.; Grotewold, E.; Peterson, T.

    1992-01-01

    The P-rr allele of the maize P gene regulates the synthesis of pigments derived from flavan-4-ol in the pericarp, cob glumes and other floral organs. We characterized 21 P alleles derived by intragenic transposition of Ac from three known positions. Ac transpositions can occur in either direction in the P gene, and with no apparent minimum distance: in one case Ac transposed just 6 bp from its original insertion site. However, the distribution of transposed Ac elements was markedly nonrandom: of 19 transposed Ac elements derived from a single Ac donor, 15 were inserted in a 1.1-kb region at the 5' end of P, while none had inserted in an adjacent 3.2-kb intronic region. All of the Ac insertions affect both pericarp and cob glume pigmentation, providing further evidence that the P-rr allele contains a single gene required for both pericarp and cob glume pigmentation. The distribution of the inserted Ac elements and the phenotype conditioned by each allele suggests a structure of P-rr which is similar to that previously determined molecularly. Possible explanations for the nonrandom distribution of transposed Ac elements are discussed. PMID:1317315

  5. Trigger of autoimmune diseases (SLE): identification of LINE transposition based novel therapeutic molecular targets.

    PubMed

    Tiwari, Anupama; Soni, Upendra Kumar

    2014-12-01

    Autoimmune diseases are the highly heterogeneous at cellular and molecular level. The causes and consequences of most of the autoimmune diseases are not well explored. However the researches focusing on the development of biomarkers for the diagnosis of autoimmune diseases are seems to be inadequate and given treatment are insufficient to control or cure the disease properly. It is a big obstacle to develop any therapy without knowing the actual cause and molecular event playing role in disease onset. In this article we are raising the involvement of LINE or other transposition as a first trigger and cause for autoimmune disease. Further we are proposing a novel hybrid aptamers based biocapturing model which would help in the investigation of genome-wide LINE transposition in pristane induced SLE mice model. Importantly the effect of new LINE movements at the expression pattern of neighboring genes would be used as novel molecular prognostic biomarkers for onset of SLE and related autoimmune diseases. We are also proposing that the differential expression either inductive or suppressive pattern of expected several candidate genes would be implicated in the defective biochemical or cellular defects, and targeted therapy would be employed to such life threatening disease. PMID:25468787

  6. A Ty1 Reverse Transcriptase Active-Site Aspartate Mutation Blocks Transposition but Not Polymerization†

    PubMed Central

    Uzun, Ozcan; Gabriel, Abram

    2001-01-01

    Reverse transcriptases (RTs) are found in a wide variety of mobile genetic elements including viruses, retrotransposons, and infectious organellar introns. An invariant triad of aspartates is thought to be required for the catalytic function of RTs. We generated RT mutants in the yeast retrotransposon Ty1, changing each of these active-site aspartates to asparagine or glutamate. All but one of the mutants lacked detectable polymerase activity. The novel exception, D211N, retained near wild-type in vitro polymerase activity within virus-like particles but failed to carry out in vivo transposition. For this mutant, minus-strand synthesis is impaired and formation of the plus-strand strong-stop intermediate is eliminated. Intragenic second-site suppressor mutations of the transposition defect map to the RNase H domain of the enzyme. Our results demonstrate that one of the three active-site aspartates in a retrotransposon RT is not catalytically critical. This implies a basic difference in the polymerase active-site geometry of Ty1 and human immunodeficiency virus RT and shows that subtle mutations in one domain can cause dramatic functional effects on a distant domain of the same enzyme. PMID:11413300

  7. The transposition frequency of Tag1 elements is increased in transgenic Arabidopsis lines.

    PubMed Central

    Bhatt, A M; Lister, C; Crawford, N; Dean, C

    1998-01-01

    Tag1 was identified as a highly active endogenous transposable element in transgenic Arabidopsis thaliana Landsberg erecta plants carrying the maize transposable element Activator (Ac). Here, we describe experiments designed to determine the basis for the high activity of Tag1. The frequency of transposition of Tag1 elements was compared in lines containing or lacking Ac transposase to assess the effect of Ac transposase on Tag1 activity. Three populations of nontransgenic plants, including nontransformed regenerants, were also analyzed. The high level of activity of Tag1 did not correlate with the presence or absence of Ac transposase but was significantly higher in transgenic lines. This result was maintained through at least six generations after transformation. These data suggest that Tag1 transposition is stimulated by processes that occur during the Agrobacterium transformation and that thereafter remain active. Two Tag1 elements are tightly linked in the Landsberg erecta genome and map to the lower arm of chromosome 1. Tag1 elements were found in only a few A. thaliana ecotypes but were present in four other Arabidopsis species. PMID:9501115

  8. Long-term results of pectoralis major muscle transposition for infected sternotomy wounds.

    PubMed Central

    Pairolero, P C; Arnold, P G; Harris, J B

    1991-01-01

    During an 11.5-year period, 100 consecutive patients (79 male, 21 female) underwent repair of an infected sternotomy wound. Sixty-five patients had failed attempts at wound closure by other physicians. Median age was 61.5 years (range, 5 to 85 years). Reconstruction included muscle in 79 patients, omentum in 4, and both in 15. A total of 175 muscles were transposed, including 169 pectoralis major, 3 rectus abdominis, 2 external oblique, and 1 latissimus dorsi. Median number of operations was four (range, 1 to 11). Mechanical ventilation was required in 30 patients. Two perioperative deaths occurred, one related to sepsis. Median follow-up was 4.2 years (range, 1.3 to 13.5 years). Twenty-six patients had recurrent infection. Median time from our closure to recurrence was 5.5 months (range, 0.3 to 27.6 months). Cause of recurrence was inadequate removal of cartilage in 16 patients, bone in 6, and retained foreign body in 4. Eighteen patients had the wound reopened with further resection; 10 had another muscle or omentum transposition. There were 30 late deaths, only one related to recurrent infection. At the time of death or last follow-up, 92 patients had a healed chest wall. Transposition of the pectoralis major muscle remains an excellent method of management for infected sternotomy wounds. Failure is directly related to persistent infection of cartilage, bone, or retained foreign bodies. PMID:2039289

  9. Modified Shumacker repair of transposition of the great arteries. Surgical and angiocardiographic considerations.

    PubMed

    Tonkin, I L; Allen, R G; Casini, M; Marin-Garcia, J; Anthony, C L; Bell, E D; Paul, R N; Chase, N A

    1983-02-01

    Sixteen patients with transposition of the great arteries, 8 days to 2 1/2 years of age, underwent intra-atrial transposition of venous return by the modified Shumacker technique. A bipedicle flap of right atrial wall was used to direct vena caval return to the mitral valve, and a hinged viable flap of pericardium was used to form the lateral wall of the pulmonary venous pathway. Thirteen patients survived operation and are well to date. Two of the three nonsurvivors were less than 1 month of age at operation, and the third had an associated inlet ventricular septal defect and a straddling tricuspid valve. Early postoperative chest radiographs were compared with preoperative films in each patient. Postoperative findings included minor right pleural effusion in four, minor pneumothorax in two, and paralyzed right hemidiaphragm in one. Two patients required a permanent pacemaker because of the development of sick sinus syndrome 2 and 4 years postoperatively. Each preoperative angiocardiogram was reviewed and compared with postoperative studies in nine patients. The latter demonstrated absence of caval gradients in each, trivial baffle leaks in four, a moderate baffle leak in one, small residual ventricular septal defects in two, and mild tricuspid regurgitation in two patients. PMID:6823149

  10. Evolutive leukoencephalopathy in congenital cytomegalovirus infection.

    PubMed

    Krakar, Goran; Đaković, Ivana; Delin, Sanja; Bošnjak, Vlatka Mejaški

    2015-01-01

    Congenital cytomegalovirus infection is the most common infectious cause of congenital brain injury. Type and severity of congenital cytomegalovirus infection-related brain abnormalities depend on the developmental stage of the central nervous system at the time of fetal infection. The aim of this study was to follow the course of leukoencephalopathy in a patient with congenital cytomegalovirus infection. We describe brain magnetic resonance imaging (MRI) findings of a boy with symptomatic congenital cytomegalovirus infection performed at the age of 3 weeks, 13 months, and 4 and 7 years. Neonatal brain MRI showed most of characteristic findings in congenital cytomegalovirus infection with most prominent white matter abnormalities and cortical dysplasia. MRI follow-up images showed that cortical dysgenesis remained unchanged and static, whereas white matter abnormalities evolved over the years. We propose that leukoencephalopathy in congenital cytomegalovirus infection is not only nonprogressive or static but even evolutive and suggests both underlying disruption and delay of myelination. PMID:24453153

  11. Coping with Congenital Hand Differences

    PubMed Central

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

    2015-01-01

    Purpose Although functional outcomes following reconstruction for congenital hand differences are frequently described, much less is known regarding children’s ability to cope with psychosocial effects of these conditions. We qualitatively explored stress and coping mechanisms among children following reconstructive surgery for congenital hand differences. Methods Forty patients and their parents participated in semi-structured interviews examining stress related to hand functioning and appearance, emotional responses to stress, and coping strategies. Interviews were audio-taped, transcribed, and analyzed thematically. A consensus taxonomy for classifying content evolved from comparisons of coding by two reviewers. Themes expressed by participants were studied for patterns of connection and grouped into broader categories. Results In this sample, 58% of children and 40% of parents reported stress related to congenital hand differences, attributed to functional deficits (61%), hand appearance (27%), social interactions (58%), and emotional reactions (46%). Among the 18 children who reported stress, 43% of parents were not aware of the presence of stress. Eight coping strategies emerged, including humor (12%), self-acceptance (21%), avoidance (27%), seeking external support (30%), concealment (30%), educating others (9%), support programs (21%) and religion (24%). Conclusions Although children with congenital hand differences often experience emotional stress related to functional limitations and aesthetic deformities, many apply positive coping mechanisms that enhance self-esteem and self-esteem. Clinicians caring for children with congenital hand differences should inform families about potential sources of stress in order to direct resources toward strengthening coping strategies and support systems. Level of Evidence Level IV-Case series PMID:25502854

  12. Incidence of Congenital Heart Disease: The 9-Year Experience of the Guangdong Registry of Congenital Heart Disease, China

    PubMed Central

    Zhuang, Jian; Chen, Guanchun; Mai, Jinzhuang; Guo, Xiaoling; Ou, Yanqiu; Chen, Jimei; Gong, Wei; Gao, Xiangmin; Wu, Yong; Nie, Zhiqiang

    2016-01-01

    There are 16.5 million newborns in China annually. However, the incidence of congenital heart disease (CHD) has not been evaluated. In 2004, we launched an active province-wide hospital-based CHD registry in the Guangdong Province of southern China. In this study, we examined the incidence of CHD and its subtypes from 2004 to 2012 and compared our findings to the literature. Our results indicate there is an increasing trend of CHD incidence. The increase in incidence occurred mainly for single lesion and the most common subtypes (e.g., ventricular or atrial septal defect, patent ductus arteriosus). There were no increases found for multiple lesions or more complex subtypes. The proportion of CHD cases that were detected early (e.g., 1 week) increased over time. The incidence of CHD stabilized in 2010–2012 with the average cumulative incidences of 9.7, 9.9, and 11.1 per 1,000 live births at 1 week, 1 month, and 1 year, respectively. The incidences of CHD subtypes were comparable with recent international results. The data did not support previous reports that Asian children have a higher incidence of pulmonary outflow obstructions and lower incidence of transposition of the great arteries. However, there was a lower incidence of left ventricular outflow tract obstructions observed in our series. The increase in CHD incidence observed over time was due to improved detection and diagnosis. The true incidence of CHD in China was approximately 11.1 per 1,000 live births, which is higher than previously reported. PMID:27409588

  13. Incidence of Congenital Heart Disease: The 9-Year Experience of the Guangdong Registry of Congenital Heart Disease, China.

    PubMed

    Qu, Yanji; Liu, Xiaoqing; Zhuang, Jian; Chen, Guanchun; Mai, Jinzhuang; Guo, Xiaoling; Ou, Yanqiu; Chen, Jimei; Gong, Wei; Gao, Xiangmin; Wu, Yong; Nie, Zhiqiang

    2016-01-01

    There are 16.5 million newborns in China annually. However, the incidence of congenital heart disease (CHD) has not been evaluated. In 2004, we launched an active province-wide hospital-based CHD registry in the Guangdong Province of southern China. In this study, we examined the incidence of CHD and its subtypes from 2004 to 2012 and compared our findings to the literature. Our results indicate there is an increasing trend of CHD incidence. The increase in incidence occurred mainly for single lesion and the most common subtypes (e.g., ventricular or atrial septal defect, patent ductus arteriosus). There were no increases found for multiple lesions or more complex subtypes. The proportion of CHD cases that were detected early (e.g., 1 week) increased over time. The incidence of CHD stabilized in 2010-2012 with the average cumulative incidences of 9.7, 9.9, and 11.1 per 1,000 live births at 1 week, 1 month, and 1 year, respectively. The incidences of CHD subtypes were comparable with recent international results. The data did not support previous reports that Asian children have a higher incidence of pulmonary outflow obstructions and lower incidence of transposition of the great arteries. However, there was a lower incidence of left ventricular outflow tract obstructions observed in our series. The increase in CHD incidence observed over time was due to improved detection and diagnosis. The true incidence of CHD in China was approximately 11.1 per 1,000 live births, which is higher than previously reported. PMID:27409588

  14. Self-Monitoring and Verbal Feedback to Reduce Stereotypic Body Rocking in a Congenitally Blind Adult.

    ERIC Educational Resources Information Center

    McAdam, David B.; And Others

    1993-01-01

    A self-management approach (utilizing self-counting of behaviors, corrective verbal feedback, and contingent verbal praise) was effectively used to reduce stereotypical body rocking in a congenitally blind young adult. Positive results were maintained, with replacement of overt counting with covert counting and immediate with delayed feedback as…

  15. Efficient transposition of the youngest miniature inverted repeat transposable element family of yellow fever mosquito in yeast.

    PubMed

    Fattash, Isam; Lee, Chia-Ni; Mo, Kaiguo; Yang, Guojun

    2015-05-01

    Miniature inverted repeat transposable elements (MITEs) are often the most numerous DNA transposons in plant and animal genomes. The dramatic amplification of MITE families during evolution is puzzling, because the transposase sources for the vast majority of MITE families are unknown. The yellow fever mosquito genome contains > 220-Mb MITE sequences; however, transposition activity has not been demonstrated for any of the MITE families. The Gnome elements are the youngest MITE family in this genome, with at least 116 identical copies. To test whether the putative autonomous element Ozma is capable of mobilizing Gnome and its two sibling MITEs, analyses were performed in a yeast transposition assay system. Whereas the wild-type transposase resulted in very low transposition activity, mutations in the region containing a putative nuclear export signal motif resulted in a dramatic (at least 4160-fold) increase in transposition frequency. We have also demonstrated that each residue of the novel DD37E motif is required for the activity of the Ozma transposase. Footprint sequences left at the donor sites suggest that the transposase may cleave between the second and the third nucleotides from the 5' ends of the elements. The excised elements reinsert specifically at dinucleotide 'TA', ~ 55% of them in yeast genes. The elements described in this article could potentially be useful as genetic tools for genetic manipulation of mosquitoes. PMID:25754725

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

    PubMed

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

    2016-02-01

    We consider the problem of sorting signed permutations by reversals, transpositions, transreversals, and block-interchanges. The problem arises in the study of species evolution via large-scale genome rearrangement operations. Recently, Hao et al. gave a 2-approximation scheme called genome sorting by bridges (GSB) for solving this problem. Their result extended and unified the results of (i) He and Chen - a 2-approximation algorithm allowing reversals, transpositions, and block-interchanges (by also allowing transversals) and (ii) Hartman and Sharan - a 1.5-approximation algorithm allowing reversals, transpositions, and transversals (by also allowing block-interchanges). The GSB result is based on introduction of three bridge structures in the breakpoint graph, the L-bridge, T-bridge, and X-bridge that models goodreversal, transposition/transreversal, and block-interchange, respectively. However, the paper by Hao et al. focused on proving the 2-approximation GSB scheme and only mention a straightforward [Formula: see text] algorithm. In this paper, we give an [Formula: see text] algorithm for implementing the GSB scheme. The key idea behind our faster GSB algorithm is to represent cycles in the breakpoint graph by their canonical sequences, which greatly simplifies the search for these bridge structures. We also give some comparison results (running time and computed distances) against the original GSB implementation. PMID:26707923

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

    PubMed Central

    Juodzbalys, Gintaras

    2015-01-01

    ABSTRACT Objectives The purpose of this first part of a two-part series was to review the literature concerning the indications, contraindications, advantages, disadvantages and surgical techniques of the lateralization and transposition of the inferior alveolar nerve, followed by the placement of an implant in an edentulous atrophic posterior mandible. Material and Methods A comprehensive review of the current literature was conducted according to the PRISMA guidelines by accessing the NCBI PubMed and PMC database, academic sites and books. The articles were searched from January 1997 to July 2014 and comprised English-language articles that included adult patients between 18 and 80 years old with minimal residual bone above the mandibular canal who had undergone inferior alveolar nerve (IAN) repositioning with a minimum 6 months of follow-up. Results A total of 16 studies were included in this review. Nine were related to IAN transposition, 4 to IAN lateralization and 3 to both transposition and lateralization. Implant treatment results and complications were presented. Conclusions Inferior alveolar nerve lateralization and transposition in combination with the installation of dental implants is sometimes the only possible procedure to help patients to obtain a fixed prosthesis, in edentulous atrophic posterior mandibles. With careful pre-operative surgical and prosthetic planning, imaging, and extremely precise surgical technique, this procedure can be successfully used for implant placement in edentulous posterior mandibular segments. PMID:25937873

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

    PubMed Central

    La, Honggui; Ding, Bo; Mishra, Gyan P.; Zhou, Bo; Yang, Hongmei; Bellizzi, Maria del Rosario; Chen, Songbiao; Meyers, Blake C.; Peng, Zhaohua; Zhu, Jian-Kang; Wang, Guo-Liang

    2011-01-01

    DNA 5-methylcytosine (5-meC) is an important epigenetic mark for transcriptional gene silencing in many eukaryotes. In Arabidopsis, 5-meC DNA glycosylase/lyases actively remove 5-meC to counteract transcriptional gene silencing in a locus-specific manner, and have been suggested to maintain the expression of transposons. However, it is unclear whether plant DNA demethylases can promote the transposition of transposons. Here we report the functional characterization of the DNA glycosylase/lyase DNG701 in rice. DNG701 encodes a large (1,812 amino acid residues) DNA glycosylase domain protein. Recombinant DNG701 protein showed 5-meC DNA glycosylase and lyase activities in vitro. Knockout or knockdown of DNG701 in rice plants led to DNA hypermethylation and reduced expression of the retrotransposon Tos17. Tos17 showed less transposition in calli derived from dng701 knockout mutant seeds compared with that in wild-type calli. Overexpression of DNG701 in both rice calli and transgenic plants substantially reduced DNA methylation levels of Tos17 and enhanced its expression. The overexpression also led to more frequent transposition of Tos17 in calli. Our results demonstrate that rice DNG701 is a 5-meC DNA glycosylase/lyase responsible for the demethylation of Tos17 and this DNA demethylase plays a critical role in promoting Tos17 transposition in rice calli. PMID:21896764

  19. Classifying sex biased congenital anomalies

    SciTech Connect

    Lubinsky, M.S.

    1997-03-31

    The reasons for sex biases in congenital anomalies that arise before structural or hormonal dimorphisms are established has long been unclear. A review of such disorders shows that patterning and tissue anomalies are female biased, and structural findings are more common in males. This suggests different gender dependent susceptibilities to developmental disturbances, with female vulnerabilities focused on early blastogenesis/determination, while males are more likely to involve later organogenesis/morphogenesis. A dual origin for some anomalies explains paradoxical reductions of sex biases with greater severity (i.e., multiple rather than single malformations), presumably as more severe events increase the involvement of an otherwise minor process with opposite biases to those of the primary mechanism. The cause for these sex differences is unknown, but early dimorphisms, such as differences in growth or presence of H-Y antigen, may be responsible. This model provides a useful rationale for understanding and classifying sex-biased congenital anomalies. 42 refs., 7 tabs.

  20. [Congenital myasthenic syndromes; French experience].

    PubMed

    Eymard, Bruno; Hantaï, Daniel; Fournier, Emmanuel; Nicole, Sophie; Sternberg, Damien; Richard, Pascale; Fardeau, Michel

    2014-02-01

    Congenital myasthenic syndromes CMS) form a heterogeneous group of genetic diseases characterized by abnormal neuromuscular transmission. The associated muscular weakness is exacerbated by exertion and usually starts during infancy/childhood In 2002 a national Congenital Myasthenic Syndromes Network was created in France, composed of neurologists, neuropediatricians, pathologists, molecular geneticists and neurobiologists. The network has now identified nearly 300 cases of CMS, as well as three new culprit genes. Based on our personal experience and data from the most recent studies, we describe the 18 principal culprit genes so far identified, along with diagnostic pitfalls, the disease course, prognosis and treatment. The underlying genetic defect remains to be identified in nearly half of CMS patients. PMID:26263703

  1. [Radiological evaluation of congenital tumors].

    PubMed

    Aguado del Hoyo, A; Ruiz Martín, Y; Lancharro Zapata, Á; Marín Rodríguez, C; Gordillo Gutiérrez, I

    2015-01-01

    In this article, we consider tumors that are diagnosed during pregnancy or in the first three months of life. This is a heterogeneous group of neoplasms with special biological and epidemiological characteristics that differentiate them from tumors arising in children or adults. In the last two decades, the prenatal detection of congenital tumors has increased due to the generalized use of prenatal sonographic screening. Advances in imaging techniques, especially in fetal magnetic resonance imaging, have enabled improvements in the diagnosis, follow-up, clinical management, and perinatal treatment of these tumors. This image-based review of the most common congenital tumors describes their histologic types, locations, and characteristics on the different imaging techniques used. PMID:26115799

  2. Congenital Anomalies of the Nose.

    PubMed

    Funamura, Jamie L; Tollefson, Travis T

    2016-04-01

    Congenital anomalies of the nose range from complete aplasia of the nose to duplications and nasal masses. Nasal development is the result of a complex embryologic patterning and fusion of multiple primordial structures. Loss of signaling proteins or failure of migration or proliferation can result in structural anomalies with significant cosmetic and functional consequences. Congenital anomalies of the nose can be categorized into four broad categories: (1) aplastic or hypoplastic, (2) hyperplastic or duplications, (3) clefts, and (4) nasal masses. Our knowledge of the embryologic origin of these anomalies helps dictate subsequent work-up for associated conditions, and the appropriate treatment or surgical approach to manage newborns and children with these anomalies. PMID:27097134

  3. [Congenital ranula in a newborn].

    PubMed

    Bernhard, M K; Hückel, D; Hamala, D

    2007-05-01

    Ranulas are cystic lesions in the floor of the mouth. They are either retention cysts of the excretory duct of the sublingual gland or pseudocysts formed by excretory duct rupture followed by extravasation and accumulation of mucus in the surrounding tissue. We report the case of a premature newborn with a congenital ranula in the floor of mouth. The ranula caused no discomfort or complications, so that immediate intervention was not necessary. The cyst resolved completely by the age of 4 months. Complications in newborns especially include airway obstruction and feeding difficulties. Surgical treatment options are needle aspiration, excision of the ranula, marsupialization, cryosurgery, and--in addition to excision of the cyst--removal of the ipsilateral sublingual gland. Sclerotherapy has shown good results as well. As many congenital cysts resolve or rupture spontaneously, they should be observed for potential resolution for several months in uncomplicated cases. PMID:16770600

  4. Are parenchymal AVMs congenital lesions?

    PubMed

    Morales-Valero, Saul F; Bortolotti, Carlo; Sturiale, Carmelo; Sturiale, Carmelo L; Lanzino, Giuseppe

    2014-09-01

    A long-held dogma in neurosurgery is that parenchymal arteriovenous malformations (AVMs) are congenital. However, there is no strong evidence supporting this theory. An increasing number of documented cases of de novo formation of parenchymal AVMs cast doubt on their congenital nature and suggest that indeed the majority of these lesions may form after birth. Further evidence suggesting the postnatal development of parenchymal AVMs comes from the exceedingly rare diagnosis of these lesions in utero despite the widespread availability of high-resolution imaging modalities such as ultrasound and fetal MRI. The exact mechanism of AVM formation has yet to be elucidated, but most likely involves genetic susceptibility and environmental triggering factors. In this review, the authors report 2 cases of de novo AVM formation and analyze the evidence suggesting that they represent an acquired condition. PMID:25175439

  5. Treatment of Congenital Aniridia Associated with Subluxated Infantile Cataract

    PubMed Central

    Jusufovic, Vahid; Cabric, Emir; Popovic-Beganovic, Allen; Musanovic, Zlatko; Zvornicanin, Jasmin

    2014-01-01

    A 5 year old boy was presented at Eye clinic University clinical center Tuzla with congenital aniridia in both eyes. Clinical examination revealed visual acuity of 0,08 without correction in right and 0.7 with -5.0 Dsph and -1.0 Dcyl Axx 109° in left eye. Opthalmologic examination showed bilateral aniridia associated with moderate cataract in the right and incipient cataract in the left eye. In the right eye, zonular weakness with incipient capsular displacement and esotropia of Δ6º, were noted. The patient underwent phacoemulsification, implantation of capsular tension ring and Artificial Iris implant in the capsular bag. Phacoemulsification went uneventful and early postoperative recovery was successful with no signs of aniridia-associated keratopathy development and normal values of intra ocular pressure. Patient was not motivated for operation of the left eye and it was corrected with soft contact lens. Six month after the operation visual acuity in the right eye improved to 0.9 with +1.25Dsph and maintained stable in left eye, with complete elimination of esotropia and signs of binocular vision restoration. Small incision cataract extraction with IOL and Artificial Iris implantation in one procedure can be used to correct congenital aniridia and cataract with significant visual function improvement. PMID:25568537

  6. Congenital malformations in diabetic offspring.

    PubMed

    Temesio, P; Belitzky, R; Gallego, L; Martell, M; Pose, S V

    1977-01-01

    A retrospective study of 215 deliveries in diabetic mothers at Hospital de Clínicas (Montevideo, Uruguay) has been performed. Presence of congenital malformations (CM) was considered in relation to age of the mothers, class of maternal diabetes, maternal angiopathy, treatment and metabolic control. The prevalence of CM in the series was 9.8%. None of the factors analyzed seems to be statistically linked to the prevalence of CM. PMID:613685

  7. Transposition Complex with Aortic Arch Obstruction: Outcomes of One-Stage Repair Over 10 Years.

    PubMed

    Choi, Kwang Ho; Sung, Si Chan; Kim, Hyungtae; Lee, Hyung Doo; Ban, Gil Ho; Kim, Geena; Kim, Hee Young

    2016-01-01

    The surgical management of transposition complex with aortic arch obstruction remains technically demanding due to anatomic complexity. Even in the recent surgical era, there are centers that address this anomaly with a staged strategy. This report presents our experiences with a one-stage repair of transposition complexes with aortic arch obstructions more than the last 10 years. Since 2003, 19 patients with a transposition of the great arteries (TGA, 2 patients) or a double outlet of the right ventricle (DORV, 17 patients) and aortic arch obstruction have undergone one-stage repair of their anomalies. The mean age was 6.7 ± 2.3 days, and the mean body weight was 3.4 ± 0.3 kg. The 2 patients with TGA exhibited coarctation of the aorta. The 17 patients with DORV all exhibited the Taussig-Bing type. The great artery relationships were anteroposterior in 4 patients (21.1 %). The coronary artery anatomies were usual (1LCx; 2R) in 8 patients (42.1 %). There were 2 early deaths (10.5 %). Seven patients (36.8 %) required percutaneous interventions. One patient required re-operation for pulmonary valvar stenosis and left pulmonary artery patch angioplasty. The overall survival was 84.2 %. The freedom from mortality was 83.5 % at 5 years, and the freedom from intervention was 54.4 % at 5 years. The one-stage repair of transposition complexes with aortic arch obstructions resulted in an acceptable survival rate and a relatively high incidence of postoperative catheter interventions. Postoperative catheter interventions are highly effective. Transposition complexes combined with aortic arch obstructions can be managed by one-stage repair with good early and midterm results. PMID:26358472

  8. Congenital Portosystemic Shunt: Our Experience

    PubMed Central

    Timpanaro, Tiziana; Passanisi, Stefano; Sauna, Alessandra; Trombatore, Claudia; Pennisi, Monica; Petrillo, Giuseppe; Smilari, Pierluigi; Greco, Filippo

    2015-01-01

    Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down's syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis. PMID:25709849

  9. Complications of splintage in congenital dislocation of the hip.

    PubMed Central

    Langkamer, V G; Clarke, N M; Witherow, P

    1991-01-01

    The use of abduction splintage in the treatment of congenital dislocation of the hip has an important morbidity. Six children who developed complications are presented in this paper. Sustained splintage of an unreduced hip, overcorrection of the femoral head displacement, avascular necrosis of the femoral head, full thickness pressure sores, and excessive tibial torsion may occur as a consequence of treatment. Expert supervision of abduction splintage, correct case selection, and regular review are necessary to reduce the incidence of such complications. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:1755647

  10. Heart Failure in Adult Congenital Heart Disease: Nonpharmacologic Treatment Strategies.

    PubMed

    LeMond, Lisa; Mai, Tuan; Broberg, Craig S; Muralidaran, Ashok; Burchill, Luke J

    2015-11-01

    In early stages, heart failure (HF) in adult congenital heart disease (ACHD) remains an elusive diagnosis. Many ACHD patients seem well-compensated owing to chronic physical and psychological adaptations. HF biomarkers and cardiopulmonary exercise tests are often markedly abnormal, although patients report stable health and good quality of life. Treatment differs from acquired HF. Evidence for effective drug therapy in ACHD-related HF is lacking. Residual ventricular, valvular, and vascular abnormalities contribute to HF pathophysiology, leading to an emphasis on nonpharmacologic treatment strategies. This article reviews emerging perspectives on nonpharmacologic treatment strategies, including catheter-based interventions, surgical correction, and palliative care. PMID:26471822

  11. New Technologies for Surgery of the Congenital Cardiac Defect

    PubMed Central

    Kalfa, David; Bacha, Emile

    2013-01-01

    The surgical repair of complex congenital heart defects frequently requires additional tissue in various forms, such as patches, conduits, and valves. These devices often require replacement over a patient’s lifetime because of degeneration, calcification, or lack of growth. The main new technologies in congenital cardiac surgery aim at, on the one hand, avoiding such reoperations and, on the other hand, improving long-term outcomes of devices used to repair or replace diseased structural malformations. These technologies are: 1) new patches: CorMatrix® patches made of decellularized porcine small intestinal submucosa extracellular matrix; 2) new devices: the Melody® valve (for percutaneous pulmonary valve implantation) and tissue-engineered valved conduits (either decellularized scaffolds or polymeric scaffolds); and 3) new emerging fields, such as antenatal corrective cardiac surgery or robotically assisted congenital cardiac surgical procedures. These new technologies for structural malformation surgery are still in their infancy but certainly present great promise for the future. But the translation of these emerging technologies to routine health care and public health policy will also largely depend on economic considerations, value judgments, and political factors. PMID:23908869

  12. Ocular manifestation of congenital toxoplasmosis, clinical implication - case report.

    PubMed

    Modrzejewska, Monika; Patalan, Jacek; Kulik, Urszula; Czeszyńska, Maria Beata

    2016-01-01

    The aim of this case report was to present extremely severe, ophthalmic complications in form of rare, congenital toxoplasmatic bilateral defect of eye-balls concomitant with advanced uveitis, microphthalmia and eye-multistructural developmental abnormalities leading to irreversible visual disability. The ocular diagnosis was confirmed in Ret-Cam II and ultrasonography and it was accompanied with congenital multiorgan lesions including hepato-splenomegaly, thrombocytopenia, leukomalacia, hydrocephalus and ventriculomegaly with neurological symptoms. Serology, PCR of cerebro-spinal fluid and cord blood confirmed the presence of congenital Toxoplasma gondii infection in the infant. The authors took the effort of insightful analysis for the causes of applied treatment failure in mother during pregnancy, analyzing the inefficacy of Spiromycin therapy in pregnant woman and evaluating false-negative result of amniocentesis for Toxoplasma gondii presence. Among many issues concerning anti-toxoplasmatic treatment in mother and infant presented in this article, the need for multiple repetition of toxoplasmatic tests should be underlined including amniotic fluid PCR and ultrasonography which can add much important data for correct diagnosis. The authors indicate that the lack of benefits from conservative therapy in case of suspected Toxopalsma gondii suggestion lead to dramatic multiorgan complications, especially ophthalmo-neurologic, leading to irreversible visual disability. PMID:27306134

  13. Radionuclide angiocardiography in the diagnosis of congenital heart disorders

    SciTech Connect

    Jones, R.H.; Austin, E.H.; Peter, C.A.; Sabiston, D.C. Jr.

    1981-06-01

    Radionuclide angiocardiography provides a noninvasive assessment of cardiac function and blood flow through the heart and lungs. During the past three years, this procedure has been used at the Duke University Medical Center for evaluation of 343 patients with congenital heart disorders. A review of this experience shows tat the resulting data were frequently useful in the surgical management of these patients. In patients with abnormal blood flow patterns, noninvasive imaging of blood flow was useful before and after operative correction. Radionuclide measurements of left-to-right intracardiac shunts were sufficiently accurate for use in the initial evaluation of patients with murmurs and to document the absence of shunt after operative closure of intracardiac septal defects. Moreover, measurements of right-to-left cardiac shunts were of benefit in the management of children with cyanotic heart disease. Measurements of left ventricular function obtained during rest and exercise were most useful in patients with origin of the left coronary artery from the pulmonary artery and in patients with congenital valvular insufficiency. This experience demonstrates that radionuclide angiocardiography provides important measurements of central hemodynamics and cardiac function which are useful in the management of patients with congenital heart disorders.

  14. Maxi-circles, glycosomes, gene transposition, expression sites, transsplicing, transferrin receptors and base J.

    PubMed

    Borst, Piet

    2016-01-01

    This is a personal story of the author of his research on trypanosomatids, covering a period of 1970-2015. Some of the highlights include the discovery of new aspects of kDNA, the mini-circle heterogeneity and the maxi-circle; the glycosome; the discovery of gene transposition as a major mechanism for antigenic variation; trans-splicing as an essential step in the synthesis of all trypanosome mRNAs; Pulsed Field Gradient gels to size-fractionate chromosome-sized DNA molecules of protozoa; the sequence of trypanosome telomeres and their growth and contraction; the first ABC-transporter of trypanosomatids, LtpgpA; the variable transferrin receptor of T. brucei and its role in Fe uptake; and base J, its structure, biosynthesis and function. PMID:27021571

  15. [Arterial switch operation for transposition of the great arteries with situs inversus and mirror image dextrocardia].

    PubMed

    Uchida, Hiroaki; Nemoto, Shintaro; Ozawa, Hideki; Sasaki, Tomoyasu; Motohashi, Yoshikazu; Katsumata, Takahiro; Inoue, Nao; Kishi, Kanta; Okumura, Kenichi; Mori, Yasuhiko

    2012-09-01

    We report a successful arterial switch operation for complete transposition of great arteries with atrial and visceral situs inversus totalis and mirror image dextrocardia in a 12-day-old infant girl. The aorta was located left side-by-side to the pulmonary trunk with a single coronary artery (mirror image of 1RLCx). After French maneuver, the posterior circumference of the neo-aorta was reconstructed. Then the coronary button was transplanted into the neo-aorta with a trap door technique carefully avoiding any twist and over-stretch. The neo-pulmonary trunk was reconstructed with an autologous pericardial patch and sutured to the longitudinal incision made into the left central pulmonary artery. The baby was discharged from hospital and has been doing well without any morbidity relating myocardial ischemia. PMID:22940657

  16. Palindromic unit-independent transposition of IS1397 in Yersinia pestis.

    PubMed

    Wilde, Caroline; Bachellier, Sophie; Hofnung, Maurice; Carniel, Elisabeth; Clément, Jean-Marie

    2002-09-01

    Palindromic units (PUs) are intergenic repeated sequences scattered over the chromosomes of Escherichia coli and several other enterobacteria. In the latter, IS1397, an E. coli insertion sequence specific to PUs, transposes into PUs with sequences close to the E. coli consensus. Reasons for this insertion specificity can relate to either a direct recognition of the target (by its sequence or its structure) by the transposase or an interaction between a specific host protein and the PU target DNA sequence. In this study, we show that for Yersinia pestis, a species deprived of PUs, IS1397 can transpose onto its chromosome, with transpositional hot spots. Our results are in favor of a direct recognition of target DNA by IS1397 transposase. PMID:12169598

  17. Transposition of the great arteries: long-term outcome and current management.

    PubMed

    Murphy, Daniel J

    2005-07-01

    There is a large group of young adults who survived atrial baffle repair of transposition of the great arteries. Most survivors are asymptomatic, although nearly all have decreased exercise capacity. Loss of sinus rhythm and atrial arrhythmias are common and increase with age. There is concern about the ability of the right ventricle to function long term as a systemic pump, and recent publications have highlighted right ventricular dysfunction in this patient population. Sudden death and congestive heart failure are the main causes of death, and outcomes beyond 30 years are unknown. Pulmonary artery banding, late arterial switch, and cardiac transplantation are employed when intractable arrhythmias or right ventricular failure threaten survival or quality of life. PMID:15987628

  18. Grasping the experience of the other from an interview: Self-transposition in use

    PubMed Central

    2013-01-01

    This article describes a part of the interview process that is never usually reported. Listening to what people say is the key to increasing our knowledge of human existences. Procuring knowledge about human experience is much more challenging. Although good sources on how to prepare and conduct an interview exist, the process of the interviewer's perception of the interviewee's message and meaning is less examined. Beyond the role of eliciting the data, the researcher endeavours to reproduce the interviewee's narration and not the voice of the researcher. By illustrating the process during the interview, further transparency and thereby validity may be achieved. To exemplify this, the perception of the interviewer is explored, and here Heidegger's work on self-transposition has proved to be helpful. PMID:23972102

  19. Review: surgery for transposition of the great arteries in the first year of life.

    PubMed Central

    Zavanella, C; Subramanian, S

    1978-01-01

    Elective intracardiac repair by the Mustard operation is recommented in patients with transposition of the great arteries and intact ventricular septum in the first year of life (Fig. 1). In patients with associated ventricular septal defect in the first three months of life, early banding followed by early debanding before the first year of life is recommended. When the left ventricular outflow tract obstruction is discrete at valvular or subvalvular level, Mustard operation, closure of the ventricular septal defect and direct relief of out-flow obstruction is acceptable, but in patients with an unfavorable left ventricular outflow tract anatomy, a preliminary shunt followed by a Rastelli operation after the age of four years will probably result in a greater salvage. The utilization of surface induced profound hypothermia and circulatory arrest allows for more precise and rapid surgery and is shown to be a definite advantage in the very young infant. PMID:75716

  20. Tn4563 transposition in Streptomyces coelicolor and its application to isolation of new morphological mutants.

    PubMed Central

    Schauer, A T; Nelson, A D; Daniel, J B

    1991-01-01

    The Tn3-like transposon Tn4556 (and its derivatives Tn4560 and Tn4563) has been used for insertion mapping of genetic loci cloned on plasmids, but it has been difficult to obtain chromosomal insertions, largely because of the lack of a strong selection against transposon donor molecules. In this communication, we report two efficient selection techniques for transposition and their use in the isolation of chromosomal insertion mutations. A number of independent Streptomyces coelicolor morphological mutants (bld and whi) were obtained. Two of the bld mutations were mapped to locations on the chromosome by SCP1-mediated conjugation; at least one mutation, bld-5m1, appears to define a novel locus involved in control of S. coelicolor morphogenesis and antibiotic production. Images PMID:1650343

  1. Anconeus muscle transposition for failed surgical treatment of tennis elbow: preliminary results.

    PubMed

    Degreef, Ilse; Van Raebroeckx, Antoon; De Smet, Luc

    2005-04-01

    The authors conducted a retrospective study on their first 10 patients treated with an anconeus muscle transposition after failed surgery for chronic lateral epicondylitis. All patients had initially been treated conservatively, and subsequently with a classical or percutaneous release of the common extensor origin. The secundary procedure involved wide excision of the common extensor origin, débridement of the lateral epicondyle and rotation of the anconeus muscle into the defect. At follow-up the results were excellent in 3 patients, good in 4 and poor in 3. This appears as a valid salvage procedure for lateral epicondylitis, since the operation was performed as a second or even a third approach. PMID:16152847

  2. Host DNA replication forks are not preferred targets for bacteriophage Mu transposition.

    PubMed Central

    Nakai, H; Taylor, A L

    1985-01-01

    Bacteriophage Mu DNA integration in Escherichia coli strains infected after alignment of chromosomal replication was analyzed by a sandwich hybridization assay. The results indicated that Mu integrated into chromosomal segments at various distances from oriC with similar kinetics. In an extension of these studies, various Hfr strains were infected after alignment of chromosomal replication, and Mu transposition was shut down early after infection. The positions of integrated Mu copies were inferred from the transfer kinetics of Mu to an F- strain. Our analysis indicated that the location of Mu DNA in the host chromosome was not dependent on the positions of host replication forks at the time of infection. However, the procedure for aligning chromosomal replication affected DNA transfer by various Hfr strains differently, and this effect could account for prior results suggesting preferential integration of Mu at host replication forks. Images PMID:3159718

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

    PubMed

    Matar, Hosam E; Garg, Neeraj K

    2016-03-01

    We present a unique case of a congenital hereditary common peroneal nerve neuropathy with congenital idiopathic congenital talipes equinovarus that had been treated with the Ponseti method with satisfactory outcome at 5-year follow-up, along with a literature review. PMID:26588839

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

    PubMed

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

    2016-04-01

    We present a case of a newborn from a remote, underserved area in the inland of Paraíba, a state from Northeast Brazil. She presented with clinical cyanosis at birth. With the aid of telemedicine, a neonatologist under online cardiology supervision performed a screening echocardiogram. The session established the diagnosis of simple transposition of the great vessels in the baby's first few hours of life. During the same telemedicine session, the necessary arrangements for transferal to a larger maternity center took place. The baby was maintained stable on prostaglandins and was subsequently transferred to a tertiary cardiac center in the neighboring State, Pernambuco. She underwent anatomical correction at day 10, presented no surgical or postoperative complications, and was discharged home at the age of 21 days. She is now over three years old and continues her follow-up care mostly at her hometown, with local pediatricians under online supervision by a cardiologist in a virtual outpatient clinic. The establishment of a Pediatric Cardiology Network, with the aid of telemedicine, can produce a major impact on the access to specialized health care for poor regions of developing countries. PMID:26159438

  5. Genetics Home Reference: congenital sucrase-isomaltase deficiency

    MedlinePlus

    ... and other compounds made from these sugar molecules (carbohydrates). Congenital sucrase-isomaltase deficiency usually becomes apparent after ... isomaltase deficiency, congenital Merck Manual for Healthcare Professionals: Carbohydrate ... Congenital sucrase-isomaltase deficiency The American ...

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

    PubMed

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

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD. PMID:25497206

  7. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

    PubMed

    Khattab, Ahmed; Yuen, Tony; Sun, Li; Yau, Mabel; Barhan, Ariella; Zaidi, Mone; Lo, Y M Dennis; New, Maria I

    2016-01-01

    A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administration of low-dose dexamethasone initiated before the 9th week of gestation. In 7 of 8 at-risk pregnancies, the unaffected fetus is unnecessarily exposed to dexamethasone for weeks until the diagnosis of classical CAH is ruled out by invasive procedures. This therapeutic dilemma calls for early prenatal diagnosis so that dexamethasone treatment can be directed to affected female fetuses only. We describe the utilization of cell-free fetal DNA in mothers carrying at-risk fetuses as early as 6 gestational weeks by targeted massively parallel sequencing of the genomic region including and flanking the CYP21A2 gene. Our highly personalized and innovative approach should permit the diagnosis of CAH before genital development begins, therefore restricting the purposeful administration of dexamethasone to mothers carrying affected females. PMID:26683339

  8. Congenital muscular dystrophy: from muscle to brain.

    PubMed

    Falsaperla, Raffaele; Praticò, Andrea D; Ruggieri, Martino; Parano, Enrico; Rizzo, Renata; Corsello, Giovanni; Vitaliti, Giovanna; Pavone, Piero

    2016-01-01

    Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder.Recent classification of CMDs have been reported most of which based on the combination of clinical, biochemical, molecular and genetic findings, but genotype/phenotype correlation are in constant progression due to more diffuse utilization of the molecular analysis.In this article, the Authors report on CMDs belonging to the group of dystroglycanopathies and in particular on the most severe forms represented by the Fukuyama CMD, Muscle-Eye-Brain disease and Walker Walburg syndrome.Clinical diagnosis of infantile hypotonia is particularly difficult considering the different etiologic factors causing the lesions, the difficulty in localizing the involved CNS area (central vs. peripheral) and the limited role of the diagnostic procedures at this early age.The diagnostic evaluation is not easy mainly in differentiating the various types of CMDs, and represents a challenge for the neonatologists and pediatricians. Suggestions are reported on the way to reach a correct diagnosis with the appropriate use of the diagnostic means. PMID:27576556

  9. [Adult patients with congenital heart disease].

    PubMed

    Grabitz, R G; Kaemmerer, H; Mohr, F-W

    2013-01-01

    Unlike a few decades ago, today most patients with congenital heart disease reach adulthood after intervention or reparative surgery. As complete correction is generally not possible, a patient population with great complexity and a particular challenge to medical management is rising and a regular follow-up is mandatory. The aim of care is the timely recognition of residual or associated problems. Frequency and intensity of follow-up examinations depend on type and complexity of the lesion. The standard repertoire at follow-up consists of a specific history, clinical examination, ECG, Holter-monitoring, exercise tests, and echocardiography. Depending on the indication, cardio-MRI, CT scan, and sophisticated cardiac catheterization may become necessary. Long-term complications like rhythm disturbances, pulmonary hypertension, or heart failure are frequent, despite optimal care. Acute complications like arrhythmias, infective endocarditis, cerebral events, cerebral abscesses, aortic dissection, pulmonary embolism, and bleeding have to be recognized early and treated appropriately. Additional focus has to be placed on counseling and management of noncardiac disease and surgery, pregnancy and delivery, exercise at work and in private life, driving, and insurance issues. Training and certification of physicians as well as the establishment of specialized centers will help to ensure high quality health care for the affected patient population. PMID:23318541

  10. Jitter Correction

    NASA Technical Reports Server (NTRS)

    Waegell, Mordecai J.; Palacios, David M.

    2011-01-01

    Jitter_Correct.m is a MATLAB function that automatically measures and corrects inter-frame jitter in an image sequence to a user-specified precision. In addition, the algorithm dynamically adjusts the image sample size to increase the accuracy of the measurement. The Jitter_Correct.m function takes an image sequence with unknown frame-to-frame jitter and computes the translations of each frame (column and row, in pixels) relative to a chosen reference frame with sub-pixel accuracy. The translations are measured using a Cross Correlation Fourier transformation method in which the relative phase of the two transformed images is fit to a plane. The measured translations are then used to correct the inter-frame jitter of the image sequence. The function also dynamically expands the image sample size over which the cross-correlation is measured to increase the accuracy of the measurement. This increases the robustness of the measurement to variable magnitudes of inter-frame jitter

  11. CONGENITAL PSEUDARTHROSIS OF THE CLAVICLE

    PubMed Central

    de Figueiredo, Marina Juliana Pita Sassioto Silveira; dos Reis Braga, Susana; Akkari, Miguel; Prado, José Carlos Lopes; Santili, Cláudio

    2015-01-01

    Congenital pseudarthrosis of the clavicle (PCC) is a rare affection, that can be diagnosed at birth and represent a disturbance of union of the ossification centers. It's more common in girls and in the right side. This study objectives to proceed a revision about the subject, that was searched in online database of LILACS and MEDLINE. We found 56 articles till present data. Besides be a bit infrequent, the PCC must not be missed or even forgotten, especially as differential diagnosis with acute fracture of the clavicle at birth by trauma in the childbirth. The diagnostic is relatively easy and the treatment can be just observation or even surgical. PMID:27047839

  12. Arrhythmias in Complex Congenital Heart Disease

    PubMed Central

    Hayward, Robert M.; Tseng, Zian H.

    2014-01-01

    Late after surgical repair of complex congenital heart disease, atrial arrhythmias are a major cause of morbidity, and ventricular arrhythmias and sudden cardiac death are a major cause of mortality. The six cases in this article highlight common challenges in the management of arrhythmias in the adult congenital heart disease population. PMID:25197326

  13. Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study

    PubMed Central

    Tennstedt, C; Chaoui, R; Korner, H; Dietel, M

    1999-01-01

    OBJECTIVE—To analyse the spectrum of congenital heart malformations, the frequency of extracardiac malformations, and the proportion of chromosome aberrations among fetuses sent for necropsy.
MATERIAL—Necropsies were performed on 815 fetuses—448 induced abortions (55%), 220 spontaneous abortions (27%), and 147 stillbirths (18%)—during a seven year period (1991-97) in the department of pathology of the Charité Medical Centre in Berlin. A congenital heart defect was identified in 129 cases (16%). For all 129 fetuses, karyotyping and an ultrasound examination had been performed.
RESULTS—Congenital heart defects were present in 22% of induced abortions (99 cases), 9% of spontaneous abortions (20 cases), and 7% of stillbirths (10 cases). The heart malformations were classified into 13 categories. A fetus with more than one defect was included only in the category of the most serious defect. The malformations in order of frequency were: ventricular septal defect (VSD) (28%), atrioventricular septal defect (AVSD) (16%), hypoplastic left heart (HLH) (16%), double outlet right ventricle (DORV) (12%), coarctation of the aorta (CoA) (6%), transposition of the great arteries (TGA) (4%), aortic valve stenosis (AoVS) (4%), tetralogy of Fallot (TOF) (3%), truncus arteriosus communis (TAC) (3%), pulmonary valve stenosis/pulmonary valve atresia (PaVS/PaVA) (3%), tricuspid atresia (TA) (3%), single ventricle (SV) (1.5%), and atrial septal defect (ASD) (0.5%). The most common congenital heart defects were VSD, AVSD, HLH, and DORV, which made up 72% of all the cases. In 11 cases the heart defect was isolated (no other cardiovascular or extracardiac malformations present), 85 cases (66%) were associated with additional cardiac malformations, 85 cases (66%) were associated with extracardiac malformations, and chromosome anomalies were detected in 43 cases (33%).
CONCLUSIONS—Fetal congenital heart malformations are common. These defects are often

  14. The epidemiology of cardiovascular defects, part I: a study based on data from three large registries of congenital malformations.

    PubMed

    Pradat, P; Francannet, C; Harris, J A; Robert, E

    2003-01-01

    To analyze complex and noncomplex cardiac malformations regarding prevalence and in relation to demographic variables, we pooled data on infants (age 1 year or younger) with congenital cardiovascular defects from three large birth defect registries in California, Sweden, and France. Altogether, 12,932 infants had one or more congenital heart defects out of 4.4 million live births and stillbirths. The registries in Sweden and France obtained data through reporting from various sources; in California, medical records were reviewed. As expected, definitions and ascertained conditions differed among each of the registries. The total rates for severe defects were similar (1.43 per 1,000), but differed for specific defects. Clear differences in epidemiological characteristics existed for specific defects; for example, severe cardiac defects sex ratios were significantly high for hypoplastic left heart syndrome, d-transposition of great vessels, double outlet right ventricle, total anoralous pulmonary venous return, tetralogy of Fallot, and significantly low for pulmonary atresia without ventricular septal defect and endocardial cushion defect. Few defects were similar for several epidemiological characteristics, but, for example, the combination of ventricular and atrial septal defects appeared equivalent with endocardial cushion defect under some circumstances, yet behaved differently with regard to associated noncardiovascular defects. PMID:12632215

  15. Pulmonary vascular disease in different types of congenital heart disease. Implications for interpretation of lung biopsy findings in early childhood.

    PubMed Central

    Haworth, S G

    1984-01-01

    Pulmonary vascular structure was studied by analysing serial reconstructions of the arterial pathways and random sections of tissue in the lungs of 16 children who died with different types of congenital heart disease and pulmonary hypertension. Cases of ventricular septal defect showed an appreciable increase in muscularity of both preacinar and intra-acinar (respiratory unit) arteries, and intimal proliferation was infrequent and mild. By contrast, cases of transposition of the great arteries with ventricular septal defect and atrioventricular septal defect showed an increase in preacinar muscularity, a short heavily muscularised arterial segment containing intimal proliferation at the entrance to the acinus, whereas the intra-acinar arteries beyond showed only a moderate increase in muscularity. In these children who were less than 1 year of age an increase in pulmonary vascular resistance was due to strategically placed small areas of intimal proliferation and not to widespread obliterative pulmonary vascular disease. The study demonstrated and explained differences in the appearance of the peripheral pulmonary arteries in different types of congenital heart disease, which help interpret the findings of lung biopsies. Images PMID:6498033

  16. Cardiac Arrhythmias In Congenital Heart Diseases

    PubMed Central

    Khairy, Paul; Balaji, Seshadri

    2009-01-01

    Arrhythmias figure prominently among the complications encountered in the varied and diverse population of patients with congenital heart disease, and are the leading cause of morbidity and mortality. The incidence generally increases as the patient ages, with multifactorial predisposing features that may include congenitally malformed or displaced conduction systems, altered hemodynamics, mechanical or hypoxic stress, and residual or postoperative sequelae. The safe and effective management of arrhythmias in congenital heart disease requires a thorough appreciation for conduction system variants, arrhythmia mechanisms, underlying anatomy, and associated physiology. We, therefore, begin this review by presenting the scope of the problem, outlining therapeutic options, and summarizing congenital heart disease-related conduction system anomalies associated with disorders of the sinus node and AV conduction system. Arrhythmias encountered in common forms of congenital heart disease are subsequently discussed. In so doing, we touch upon issues related to risk stratification for sudden death, implantable cardiac devices, catheter ablation, and adjuvant surgical therapy. PMID:19898654

  17. Optimum treatment of congenital cytomegalovirus infection.

    PubMed

    Leruez-Ville, Marianne; Ville, Yves

    2016-01-01

    Congenital cytomegalovirus infection affects 0.7% of live births and is the leading cause of congenital neurological handicaps of infectious origin. However, systematic screening of this infection has not been implemented in pregnancy or at birth in any country. This apparent paradox has been justified by the unavailability of an efficient vaccine and by the scarcity of data available on the treatment of congenital CMV. However, in the last decade interesting new data on the management of this congenital infection has emerged including new results on both neonatal and postnatal treatments. This review provides an update on the potential benefits of antiviral treatment and on passive immunisation both in the neonatal and the antenatal periods. These suggest a benefit to a proactive approach for neonatal and prenatal congenital infections. PMID:27043943

  18. Maintenance of ovarian function in end-of-life cervical cancer patient following primary surgico-radiotherapy and ovarian transposition.

    PubMed

    Sicam, Renee Vina G; Huang, Kuan-Gen; Chang, Yung-Chia; Lee, Chyi-Long

    2013-04-01

    A 35-year-old woman underwent laparoscopic radical hysterectomy, pelvic lymphadenectomy and ovarian transposition for stage IB2 cervical adenocarcinoma. She received adjuvant concurrent chemoradiation for poor pathologic risk factors but had tumor recurrence 20 months after the surgery. Transposed ovaries were uninvolved in the recurrence and progression. Salvage chemotherapy and radiotherapy were given. Despite systemic chemotherapy and repeat pelvic radiotherapy, the patient was able to maintain ovarian function. Ovarian transposition in cervical cancer is an easily performed procedure that does not alter the prognosis of the disease in some cases. Present recommendations for its use should be reevaluated so that more premenopausal cancer patients may benefit from this underutilized procedure. PMID:23653838

  19. [Maternal imagination and congenital malformations].

    PubMed

    Van Heiningen, Teunis Willem

    2011-01-01

    Since antiquity philosophers and scientists tried to explain the cause of congenital malformations. In early modern medicine maternal imagination was largely accepted as their true cause, This concept was rejected by Blondel, a London physician. Around 1750 Wolff introduced the Hemmungsbildung as the cause of congenital malformations, a concept adopted in 1781 by Blumenbach. Later on Soemmerring (1784), Crichton (1785) and Meckel the younger adopted Blumenbach's concept. In 1824 Suringar further developed it. More and more the excessive development of fetal blood vessels or nerves was rejected as a possible cause, although from time to time these ideas were adopted again. In the early 1800s Etienne Geoffroy Saint-Hilaire (1811) and Vrolik (1817) developed a classification of monstra. These attempts urged Isidore Geoffroy Saint-Hilaire (Etienne's son) and Vrolik the younger (Gerard's son) to develop it further. Nevertheless, around 1840 Vrolik had to admit that although we are well acqainted with the various malformations, we are still ignorant of the primary cause of these phenomena. Meanwhile the dispute between the adherents of the theory of preformation and those who had adopted the concept of epigenesis exercised many minds. In the second half of the eighteenth century the latter theory became more and more adopted and this fact cleared the way for the ideas introduced by Wolff and Blumenbach, because it was consistent with the idea of a gradual development of fetal structures. PMID:22073754

  20. Congenital PCB poisoning: a reevaluation

    SciTech Connect

    Miller, R.W.

    1985-05-01

    A review of the literature reveals a need to clarify the pathologic physiology of congenital polychlorinated biphenyl (PCB) poisoning, which is characterized by intrauterine growth retardation, brown staining of the skin and mucous membranes as in Addison's disease, natal teeth, widely open fontanelles and sagittal suture and apparent overgrowth of the gingiva. The skull abnormalities may represent irregular calcification, with natal teeth appearing because the bone of the mandible is penetrated more easily than usual. Some fetuses were poisoned at the time the mothers ingested the oil; others were affected in the subsequent years from residual contamination in the mothers' bodies. The misadventure in Japan was repeated in Taiwan in 1979. The seven congenital cases in Taiwan reported thus far seem to differ from those in Japan. In Taiwan the noses were somewhat black, two of the infants did not have low birth weight and the osseous abnormalities of the skull and gingival hyperplasia were not observed. Systematic followup studies should be made in Taiwan of the children born within 2 years of maternal poisoning with PCBs. Special attention should be given to age at first dentition and skull-X-rays for spotty calcification, among other measures of physical, neurologic and intellectual development.

  1. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

    PubMed Central

    Belaya, Katsiaryna; Rodríguez Cruz, Pedro M.; Liu, Wei Wei; Maxwell, Susan; McGowan, Simon; Farrugia, Maria E.; Petty, Richard; Walls, Timothy J.; Sedghi, Maryam; Basiri, Keivan; Yue, Wyatt W.; Sarkozy, Anna; Bertoli, Marta; Pitt, Matthew; Kennett, Robin; Schaefer, Andrew; Bushby, Kate; Parton, Matt; Lochmüller, Hanns; Palace, Jacqueline; Muntoni, Francesco

    2015-01-01

    Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. Mutations in at least 20 genes are known to lead to the onset of these conditions. Four of these, ALG2, ALG14, DPAGT1 and GFPT1, are involved in glycosylation. Here we identify a fifth glycosylation gene, GMPPB, where mutations cause congenital myasthenic syndrome. First, we identified recessive mutations in seven cases from five kinships defined as congenital myasthenic syndrome using decrement of compound muscle action potentials on repetitive nerve stimulation on electromyography. The mutations were present through the length of the GMPPB, and segregation, in silico analysis, exon trapping, cell transfection followed by western blots and immunostaining were used to determine pathogenicity. GMPPB congenital myasthenic syndrome cases show clinical features characteristic of congenital myasthenic syndrome subtypes that are due to defective glycosylation, with variable weakness of proximal limb muscle groups while facial and eye muscles are largely spared. However, patients with GMPPB congenital myasthenic syndrome had more prominent myopathic features that were detectable on muscle biopsies, electromyography, muscle magnetic resonance imaging, and through elevated serum creatine kinase levels. Mutations in GMPPB have recently been reported to lead to the onset of muscular dystrophy dystroglycanopathy. Analysis of four additional GMPPB-associated muscular dystrophy dystroglycanopathy cases by electromyography found that a defective neuromuscular junction component is not always present. Thus, we find mutations in GMPPB can lead to a wide spectrum of clinical features where deficit in neuromuscular transmission is the major component in a subset of cases. Clinical recognition of GMPPB-associated congenital myasthenic syndrome may be complicated by the presence of myopathic features, but correct diagnosis is important because affected

  2. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

    PubMed

    Belaya, Katsiaryna; Rodríguez Cruz, Pedro M; Liu, Wei Wei; Maxwell, Susan; McGowan, Simon; Farrugia, Maria E; Petty, Richard; Walls, Timothy J; Sedghi, Maryam; Basiri, Keivan; Yue, Wyatt W; Sarkozy, Anna; Bertoli, Marta; Pitt, Matthew; Kennett, Robin; Schaefer, Andrew; Bushby, Kate; Parton, Matt; Lochmüller, Hanns; Palace, Jacqueline; Muntoni, Francesco; Beeson, David

    2015-09-01

    Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. Mutations in at least 20 genes are known to lead to the onset of these conditions. Four of these, ALG2, ALG14, DPAGT1 and GFPT1, are involved in glycosylation. Here we identify a fifth glycosylation gene, GMPPB, where mutations cause congenital myasthenic syndrome. First, we identified recessive mutations in seven cases from five kinships defined as congenital myasthenic syndrome using decrement of compound muscle action potentials on repetitive nerve stimulation on electromyography. The mutations were present through the length of the GMPPB, and segregation, in silico analysis, exon trapping, cell transfection followed by western blots and immunostaining were used to determine pathogenicity. GMPPB congenital myasthenic syndrome cases show clinical features characteristic of congenital myasthenic syndrome subtypes that are due to defective glycosylation, with variable weakness of proximal limb muscle groups while facial and eye muscles are largely spared. However, patients with GMPPB congenital myasthenic syndrome had more prominent myopathic features that were detectable on muscle biopsies, electromyography, muscle magnetic resonance imaging, and through elevated serum creatine kinase levels. Mutations in GMPPB have recently been reported to lead to the onset of muscular dystrophy dystroglycanopathy. Analysis of four additional GMPPB-associated muscular dystrophy dystroglycanopathy cases by electromyography found that a defective neuromuscular junction component is not always present. Thus, we find mutations in GMPPB can lead to a wide spectrum of clinical features where deficit in neuromuscular transmission is the major component in a subset of cases. Clinical recognition of GMPPB-associated congenital myasthenic syndrome may be complicated by the presence of myopathic features, but correct diagnosis is important because affected

  3. Autogenous side-to-side brachial-basilic fistulas without vein transposition: a valuable option?

    PubMed

    Lomonte, Carlo; Casucci, Francesco; Antonelli, Maurizio; Losurdo, Nicola; Marchio, Giovanni; Teutonico, Annalisa; Libutti, Pasquale; Basile, Carlo

    2009-01-01

    An autogenous brachial-basilic arteriovenous fistula (BBAVF) in the upper arm must be considered before placing prosthetic grafts in hemodialysis patients with multiple failures of forearm AVFs. The aim of this observational study was to compare technical and clinical outcomes of a new construction technique for BBAVF (n-BBAVF) with that of the standard one-stage side-artery to end-vein transposed BBAVF (t-BBAVF). A n-BBAVF is constructed in the following way: basilic vein and brachial artery are isolated. Patency of the proximal and distal vein is verified by injecting warmed (37 degrees C) saline solution. A venotomy and an arterotomy of 4-5 mm are performed. The two vessels are prepared for a side-to-side anastomosis without transposition of the vein. The latter allows both an antegrade and retrograde flow along the basilic vein, both proximally and distally to the anastomosis with more sites available for the venipunctures of the dialysis. Thirty BBAVFs were constructed as the secondary or tertiary vascular access in 30 patients over a 4-year period: 17 patients with adequate forearm basilic vein underwent the construction of a n-BBAVF; 13 underwent the construction of a t-BBAVF. The construction of a n-BBAVF requires a significantly lesser surgical time (55.0 +/- 9.0 minutes vs. 115.0 +/- 18.0, p < 0.0001), has fewer surgical complications (5.9% vs. 46.2%, p < 0.0001), and a reduced time to first use (24.5 +/- 6.3 vs. 37.7 +/- 9.1 days, p < 0.0001) than that of a t-BBAVF. n-BBAVFs showed a relatively low rate of thrombosis per patient-year at risk (0.067 at 1 year and 0.099 at 2 years). The latter was significantly lower at 1 year when compared with t-BBAVFs (0.067 vs. 0.285; p < 0.004). Our policy of "all AVFs should be autogenous" led us to the construction of a vascular access which is based on a side-to-side anastomosis between the brachial artery and the basilic vein without transposition of the vein allowing both antegrade and retrograde flow into the

  4. Structural controls on the formation and transposition of the Malmberget apatite iron ore deposit, northern Sweden

    NASA Astrophysics Data System (ADS)

    Bauer, Tobias; Sarlus, Zimer; Andersson, Joel; Kearney, Thomas

    2015-04-01

    The Malmberget mine is the World's second largest underground iron ore operation. It is composed of approximately 20 apatite iron ore bodies, whereas 13 ore bodies with 5-245 Mt each are presently mined. The massive magnetite ore is hosted within volcanic and volcaniclastic rocks. Host rocks within the entire area were subject to intense hydrothermal alteration. The ore reserves at beginning of 2012 totalled 290 Mt at 44 percent iron. Together with Kiruna and Svappavaara these three deposits stands for more than 90 percent of the iron ore production in Europe. An on-going collaborative research project aims at unravelling the structural geometries, relationships and control on ore formation and ore body transposition at different scales in the Gällivare district in general and in the Malmberget mine in particular. Recent results show the three-dimensional crustal architecture of the Malmberget deposit which has undergone at least two separate deformation events. The first deformation event (D1) resulted in the formation of a strong and penetrative cleavage (S1) forming a varyingly intense banding within the volcanic rocks. The D1-event coincides with the amphibolite facies peak metamorphism in the area. Distinct, biotite-rich D1 shear zones are spatially related to the majority of the S1-parallel massive magnetite bodies. These D1 shear zones seem to be responsible for a strong strain partitioning during D1. A second compressional event (D2) resulted in open to close folding of the S1 fabric, the D1 shear zones and the related ore bodies. The result is an asymmetric F2-synform with moderately south-west-plunging fold axis. Furthermore, distinct D2 high strain zones are responsible for local transposition of S1 fabrics, tight to isoclinal folding and channeling or re-mobilization of hydrothermal alteration minerals. Both deformation events are accompanied by syn- and late-tectonic granitic intrusions forming both foliated and unfoliated and commonly boudinaged

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

    PubMed

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

    2014-01-01

    PiggyBac is a prevalent transposon system used to deliver transgenes and functionally explore the mammalian untouched genomic territory. The important features of piggyBac transposon are the relatively low insertion site preference and the ability of seamless removal from genome, which allow its potential uses in functional genomics and regenerative medicine. Efforts to increase its transposition efficiency in mammals were made through engineering the corresponding transposase (PBase) codon usage to enhance its expression level and through screening for mutant PBase variants with increased enzyme activity. To improve the safety for its potential use in regenerative medicine applications, site-specific transposition was achieved by using engineered zinc finger- and Gal4-fused PBases. An excision-prone PBase variant has also been successfully developed. Here we describe the construction of a nucleolus-predominant PBase, NP-mPB, by adding a nucleolus-predominant (NP) signal peptide from HIV-1 TAT protein to a mammalian codon-optimized PBase (mPB). Although there is a predominant fraction of the NP-mPB-tGFP fusion proteins concentrated in the nucleoli, an insertion site preference toward nucleolar organizer regions is not detected. Instead a 3-4 fold increase in piggyBac transposition efficiency is reproducibly observed in mouse and human cells. PMID:24586748

  6. A Nucleolus-Predominant piggyBac Transposase, NP-mPB, Mediates Elevated Transposition Efficiency in Mammalian Cells

    PubMed Central

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

    2014-01-01

    PiggyBac is a prevalent transposon system used to deliver transgenes and functionally explore the mammalian untouched genomic territory. The important features of piggyBac transposon are the relatively low insertion site preference and the ability of seamless removal from genome, which allow its potential uses in functional genomics and regenerative medicine. Efforts to increase its transposition efficiency in mammals were made through engineering the corresponding transposase (PBase) codon usage to enhance its expression level and through screening for mutant PBase variants with increased enzyme activity. To improve the safety for its potential use in regenerative medicine applications, site-specific transposition was achieved by using engineered zinc finger- and Gal4-fused PBases. An excision-prone PBase variant has also been successfully developed. Here we describe the construction of a nucleolus-predominant PBase, NP-mPB, by adding a nucleolus-predominant (NP) signal peptide from HIV-1 TAT protein to a mammalian codon-optimized PBase (mPB). Although there is a predominant fraction of the NP-mPB-tGFP fusion proteins concentrated in the nucleoli, an insertion site preference toward nucleolar organizer regions is not detected. Instead a 3–4 fold increase in piggyBac transposition efficiency is reproducibly observed in mouse and human cells. PMID:24586748

  7. Morphological and molecular characterization of new Drosophila cell lines established from a strain permissive for gypsy transposition.

    PubMed

    Chalvet, F; Debec, A; Marcaillou, C; Rougeau, C; Bucheton, A

    1998-01-01

    The gypsy element of Drosophila melanogaster is the first retrovirus identified in invertebrates. Its transposition is controlled by a host gene called flamenco (flam): restrictive alleles of this gene maintain the retrovirus in a repressed state while permissive alleles allow high levels of transposition. To develop a cell system to study the gypsy element, we established four independent cell lines derived from the Drosophila strain SS, which contains a permissive allele of flamenco, and which is devoid of transposing copies of gypsy. The ultrastructural analysis of three SS cell lines revealed some remarkable characteristics, such as many nuclear virus-like particles, cytoplasmic dense particles, and massive cisternae filled with a fibrous material of unknown origin. Gypsy intragenomic distribution has been compared between the three cell lines and the original SS fly strain, and revealed in two of the cell lines an increase in copy number of a restriction fragment usually present in active gypsy elements. This multiplication seems to have occurred during the passage to the cell culture. Availability of SS cell lines should assist studies of gypsy transposition and infectivity and might be useful to produce high amounts of gypsy viral particles. These new lines already allowed us to show that the Envelope-like products of gypsy can be expressed as membrane proteins. PMID:9870529

  8. Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing

    PubMed Central

    Kondo, Yukiko; Saitsu, Hirotomo; Miyamoto, Toshinobu; Lee, Byung Joo; Nishiyama, Kiyomi; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Doi, Hiroshi; Miyake, Noriko; Kim, Jeong Hun; Yu, Young Suk

    2013-01-01

    Purpose Congenital cataract is one of the most frequent causes of visual impairment and childhood blindness. Approximately one quarter to one third of congenital cataract cases may have a genetic cause. However, phenotypic variability and genetic heterogeneity hamper correct genetic diagnosis. In this study, we used whole-exome sequencing (WES) to identify pathogenic mutations in two Korean families with congenital cataract. Methods Two affected members from each family were pooled and processed for WES. The detected variants were confirmed with direct sequencing. Results WES readily identified a CRYAA mutation in family A and a CRYGC mutation in family B. The c.61C>T (p.R21W) mutation in CRYAA has been previously reported in a family with congenital cataract and microcornea. The novel mutation, c.124delT, in CRYGC may lead to a premature stop codon (p.C42Afs*60). Conclusions This study clearly shows the efficacy of WES for rapid genetic diagnosis of congenital cataract with an unknown cause. WES will be the first choice for clinical services in the near future, providing useful information for genetic counseling and family planning. PMID:23441109

  9. Congenital anosmia and emotion recognition: A case-control study.

    PubMed

    Lemogne, Cédric; Smadja, Julien; Zerdazi, El-Hadi; Soudry, Yaël; Robin, Marion; Berthoz, Sylvie; Limosin, Frédéric; Consoli, Silla M; Bonfils, Pierre

    2015-06-01

    Patients with anosmia are not able to detect volatile chemicals signaling the presence of infectious and non-infectious environmental hazards, which typically elicit disgust and fear, respectively. Social animals may compensate a loss of olfaction by taking advantage of signals of threat that are produced by their conspecifics. Among humans and other primates, body postures and facial expressions are powerful cues conveying emotional information, including fear and disgust. The aim of the present study was to examine whether humans with agenesis of the olfactory bulb, a rare disorder characterized by congenital anosmia, would be more accurate in recognizing facial expressions of fear and disgust. A total of 90 participants with no history of mental disorder or traumatic brain injury were recruited, including 17 patients with congenital anosmia (10 men, mean age ± standard deviation: 36.5 ± 14.8 years), 34 patients with acquired anosmia (18 men, mean age ± standard deviation: 57.2 ± 11.8 years) and 39 healthy subjects (22 men, mean age ± standard deviation: 36.7 ± 13.2 years). For each patient with congenital anosmia, the agenesis of the olfactory bulb was ascertained through magnetic resonance imaging. Emotion recognition abilities were examined with a dynamic paradigm in which a morphing technique allowed displaying emotional facial expressions increasing in intensity over time. Adjusting for age, education, depression and anxiety, patients with congenital anosmia required similar levels of intensity to correctly recognize fear and disgust than healthy subjects while they displayed decreased error rates for both fear (mean difference [95% confidence interval] = -28.3% [-46.3%, -10.2%], P = 0.003) and disgust (mean difference [95% confidence interval] = -15.8% [-31.5%, -0.2%], P = 0.048). Furthermore, among patients with acquired anosmia, there was a negative correlation between duration of anosmia and the rate of errors for fearful (Spearman's ρ = -0.531, P

  10. Circulating microRNA expression profile and systemic right ventricular function in adults after atrial switch operation for complete transposition of the great arteries

    PubMed Central

    2013-01-01

    Background Data on the use of circulating microRNAs (miRNAs) as biomarkers of cardiovascular diseases are emerging. Little, however, is known on the expression profile of circulating of microRNAs in congenital heart malformations with a systemic right ventricle that is prone to functional impairment. We aimed to test the hypothesis that circulating miRNA profile is altered in patients late after atrial switch operation for complete transposition of the great arteries (TGA) and further explored possible relationships between alteration of circulating miRNAs and systemic ventricular contractility. Methods Circulating miRNA expression profiling of serum samples from 5 patients and 5 healthy controls was performed. The results were validated in 26 patients and 20 controls using real-time quantitative reverse-transcription polymerase chain reaction for candidate miRNAs with fold changes >3 by expression profiling. Systemic ventricular myocardial acceleration during isovolumic contraction (IVA) was determined by colour tissue Doppler echocardiography. Results Compared with controls, patients had significantly lower systemic ventricular IVA (p = 0.002). Of the 23 upregulated miRNAs identified by profiling, 11 were validated to be increased in patients compared with controls: miR-16, miR-106a, miR-144*, miR-18a, miR-25, miR-451, miR-486-3p, miR-486-5p, miR-505*, let-7e and miR-93. Among the validated 11 miRNAs, miR-18a (r = −0.45, p = 0.002) and miR-486-5p (r = −0.35, p = 0.018) correlated negatively with systemic ventricular IVA for the whole cohort. Conclusions A distinct serum miRNA expression signature exists in adults with complete TGA after atrial switch operation, with serum miR-18a and miR-486-5p being associated with systemic ventricular contractility. PMID:24040857

  11. piggyBac transposons expressing full-length human dystrophin enable genetic correction of dystrophic mesoangioblasts

    PubMed Central

    Loperfido, Mariana; Jarmin, Susan; Dastidar, Sumitava; Di Matteo, Mario; Perini, Ilaria; Moore, Marc; Nair, Nisha; Samara-Kuko, Ermira; Athanasopoulos, Takis; Tedesco, Francesco Saverio; Dickson, George; Sampaolesi, Maurilio; VandenDriessche, Thierry; Chuah, Marinee K.

    2016-01-01

    Duchenne muscular dystrophy (DMD) is a genetic neuromuscular disorder caused by the absence of dystrophin. We developed a novel gene therapy approach based on the use of the piggyBac (PB) transposon system to deliver the coding DNA sequence (CDS) of either full-length human dystrophin (DYS: 11.1 kb) or truncated microdystrophins (MD1: 3.6 kb; MD2: 4 kb). PB transposons encoding microdystrophins were transfected in C2C12 myoblasts, yielding 65±2% MD1 and 66±2% MD2 expression in differentiated multinucleated myotubes. A hyperactive PB (hyPB) transposase was then deployed to enable transposition of the large-size PB transposon (17 kb) encoding the full-length DYS and green fluorescence protein (GFP). Stable GFP expression attaining 78±3% could be achieved in the C2C12 myoblasts that had undergone transposition. Western blot analysis demonstrated expression of the full-length human DYS protein in myotubes. Subsequently, dystrophic mesoangioblasts from a Golden Retriever muscular dystrophy dog were transfected with the large-size PB transposon resulting in 50±5% GFP-expressing cells after stable transposition. This was consistent with correction of the differentiated dystrophic mesoangioblasts following expression of full-length human DYS. These results pave the way toward a novel non-viral gene therapy approach for DMD using PB transposons underscoring their potential to deliver large therapeutic genes. PMID:26682797

  12. piggyBac transposons expressing full-length human dystrophin enable genetic correction of dystrophic mesoangioblasts.

    PubMed

    Loperfido, Mariana; Jarmin, Susan; Dastidar, Sumitava; Di Matteo, Mario; Perini, Ilaria; Moore, Marc; Nair, Nisha; Samara-Kuko, Ermira; Athanasopoulos, Takis; Tedesco, Francesco Saverio; Dickson, George; Sampaolesi, Maurilio; VandenDriessche, Thierry; Chuah, Marinee K

    2016-01-29

    Duchenne muscular dystrophy (DMD) is a genetic neuromuscular disorder caused by the absence of dystrophin. We developed a novel gene therapy approach based on the use of the piggyBac (PB) transposon system to deliver the coding DNA sequence (CDS) of either full-length human dystrophin (DYS: 11.1 kb) or truncated microdystrophins (MD1: 3.6 kb; MD2: 4 kb). PB transposons encoding microdystrophins were transfected in C2C12 myoblasts, yielding 65±2% MD1 and 66±2% MD2 expression in differentiated multinucleated myotubes. A hyperactive PB (hyPB) transposase was then deployed to enable transposition of the large-size PB transposon (17 kb) encoding the full-length DYS and green fluorescence protein (GFP). Stable GFP expression attaining 78±3% could be achieved in the C2C12 myoblasts that had undergone transposition. Western blot analysis demonstrated expression of the full-length human DYS protein in myotubes. Subsequently, dystrophic mesoangioblasts from a Golden Retriever muscular dystrophy dog were transfected with the large-size PB transposon resulting in 50±5% GFP-expressing cells after stable transposition. This was consistent with correction of the differentiated dystrophic mesoangioblasts following expression of full-length human DYS. These results pave the way toward a novel non-viral gene therapy approach for DMD using PB transposons underscoring their potential to deliver large therapeutic genes. PMID:26682797

  13. Voxelwise atlas rating for computer assisted diagnosis: Application to congenital heart diseases of the great arteries

    PubMed Central

    Zuluaga, Maria A.; Burgos, Ninon; Mendelson, Alex F.; Taylor, Andrew M.; Ourselin, Sébastien

    2015-01-01

    Atlas-based analysis methods rely on the morphological similarity between the atlas and target images, and on the availability of labelled images. Problems can arise when the deformations introduced by pathologies affect the similarity between the atlas and a patient’s image. The aim of this work is to exploit the morphological dissimilarities between atlas databases and pathological images to diagnose the underlying clinical condition, while avoiding the dependence on labelled images. We propose a voxelwise atlas rating approach (VoxAR) relying on multiple atlas databases, each representing a particular condition. Using a local image similarity measure to assess the morphological similarity between the atlas and target images, a rating map displaying for each voxel the condition of the atlases most similar to the target is defined. The final diagnosis is established by assigning the condition of the database the most represented in the rating map. We applied the method to diagnose three different conditions associated with dextro-transposition of the great arteries, a congenital heart disease. The proposed approach outperforms other state-of-the-art methods using annotated images, with an accuracy of 97.3% when evaluated on a set of 60 whole heart MR images containing healthy and pathological subjects using cross validation. PMID:26433929

  14. The alteration of interelemental ratios in myocardium under the congenital heart disease (SRXRF)

    NASA Astrophysics Data System (ADS)

    Trunova, V. A.; Zvereva, V. V.; Okuneva, G. N.; Levicheva, E. N.

    2007-05-01

    It is the myocardium that bears the basic functional loading during heart working, including muscle contractility and enzyme activity. The elemental concentrations in myocardium tissue of heart were determined by SRXRF technique. Our investigation is systematical: the elemental content in each compartment (left and right ventricles, left and right auricles) of hearts of healthy and diseased children (congenital heart diseases, transposition of main vessels (TMV)) was analyzed. The elemental distribution in myocardium of four heart chambers of human fetuses was also analyzed. Following elements were determined: S, Cl, K, Ca, Cr, Mn, Fe, Ni, Cu, Zn, As, Se, Br, Rb, Sr. It was revealed that the elemental concentrations in myocardium of both ventricles are almost constant in heart of fetuses and healthy children. The transition from pre-natal study (fetus) to post-natal study is accompanied by the redistribution of chemical elements in myocardium. The higher concentrations of S, Fe, Ca, Sr and Cu in myocardium of children are observed, the content of K, Br, Rb and especially Se is lower than in heart of fetuses. The elemental distribution in myocardium of children TMV is considerably different in comparison with the healthy children: the higher levels of Cu are observed. The content of Se is lower.

  15. Birth prevalence of congenital heart disease: A cross-sectional observational study from North India

    PubMed Central

    Saxena, Anita; Mehta, Anurag; Sharma, Mamta; Salhan, Sudha; Kalaivani, Mani; Ramakrishnan, Sivasubramanian; Juneja, Rajnish

    2016-01-01

    Objective: To assess the birth prevalence and pattern of congenital heart disease (CHD) using echocardiography in babies born in a community hospital of North India. Methods: A cross-sectional observational study conducted over a period of 3 years. Newborns born over a specific 8-h period of the day were recruited in the study. They underwent routine clinical examination and pulse oximetry, followed by screening echocardiography for diagnosing a CHD. Results: A total of 20,307 newborns were screened, among which 874 had abnormal echocardiograms; 687 had insignificant CHDs, 164 had significant CHDs, and 24 had other abnormal cardiac findings. The birth prevalence of significant CHDs was 8.07 per 1000 live births; 131 newborns had an acyanotic CHD (79.9%) and 33 a cyanotic CHD (20.1%). Ventricular septal defect (VSD) was the most common acyanotic CHD, present in 116 newborns, giving a prevalence of 5.7/1000 live births. Among the cyanotic CHD, transposition of great arteries was most common (prevalence 0.34/1000 live births). Conclusion: The CHD birth prevalence in our study is similar to the reported worldwide birth prevalence. Acyanotic CHD (mostly VSD) is seen in about three-fourths of babies born with CHD. The more sinister cyanotic CHD is present in remaining 25%. PMID:27625516

  16. Paternal transmission of congenital myotonic dystrophy.

    PubMed Central

    de Die-Smulders, C E; Smeets, H J; Loots, W; Anten, H B; Mirandolle, J F; Geraedts, J P; Höweler, C J

    1997-01-01

    We report a rare case of paternally transmitted congenital myotonic dystrophy (DM). The proband is a 23 year old, mentally retarded male who suffers severe muscular weakness. He presented with respiratory and feeding difficulties at birth. His two sibs suffer from childhood onset DM. Their late father had the adult type of DM, with onset around 30 years. Only six other cases of paternal transmission of congenital DM have been reported recently. We review the sex related effects on transmission of congenital DM. Decreased fertility of males with adult onset DM and contraction of the repeat upon male transmission contribute to the almost absent occurrence of paternal transmission of congenital DM. Also the fathers of the reported congenitally affected children showed, on average, shorter CTG repeat lengths and hence less severe clinical symptoms than the mothers of children with congenital DM. We conclude that paternal transmission of congenital DM is rare and preferentially occurs with onset of DM past 30 years in the father. Images PMID:9391889

  17. Flood frequency analysis using radar rainfall fields and stochastic storm transposition

    NASA Astrophysics Data System (ADS)

    Wright, Daniel B.; Smith, James A.; Baeck, Mary Lynn

    2014-02-01

    Flooding is the product of complex interactions among spatially and temporally varying rainfall, heterogeneous land surface properties, and drainage network structure. Conventional approaches to flood frequency analysis rely on assumptions regarding these interactions across a range of scales. The impacts of these assumptions on flood risk estimates are poorly understood. In this study, we present an alternative flood frequency analysis framework based on stochastic storm transposition (SST). We use SST to synthesize long records of rainfall over the Charlotte, North Carolina, USA metropolitan area by "reshuffling" radar rainfall fields, within a probabilistic framework, from a 10 year (2001-2010) high-resolution (15 min, 1 km2) radar data set. We use these resampled fields to drive a physics-based distributed hydrologic model for a heavily urbanized watershed in Charlotte. The approach makes it possible to estimate discharge return periods for all points along the drainage network without the assumptions regarding rainfall structure and its interactions with watershed features that are required using conventional methods. We develop discharge estimates for return periods from 10 to 1000 years for a range of watershed scales up to 110 km2. SST reveals that flood risk in the larger subwatersheds is dominated by tropical storms, while organized thunderstorm systems dominate flood risk in the smaller subwatersheds. We contrast these analyses with examples of potential problems that can arise from conventional frequency analysis approaches. SST provides an approach for examining the spatial extent of flooding and for incorporating nonstationarities in rainfall or land use into flood risk estimates.

  18. The RAG proteins and V(D)J recombination: complexes, ends, and transposition.

    PubMed

    Fugmann, S D; Lee, A I; Shockett, P E; Villey, I J; Schatz, D G

    2000-01-01

    V(D)J recombination proceeds through a series of protein:DNA complexes mediated in part by the RAG1 and RAG2 proteins. These proteins are responsible for sequence-specific DNA recognition and DNA cleavage, and they appear to perform multiple postcleavage roles in the reaction as well. Here we review the interaction of the RAG proteins with DNA, the chemistry of the cleavage reaction, and the higher order complexes in which these events take place. We also discuss postcleavage functions of the RAG proteins, including recent evidence indicating that they initiate the process of coding end processing by nicking hairpin DNA termini. Finally, we discuss the evolutionary and functional implications of the finding that RAG1 and RAG2 constitute a transposase, and we consider RAG protein biochemistry in the context of several bacterial transposition systems. This suggests a model of the RAG protein active site in which two divalent metal ions serve alternating and opposite roles as activators of attacking hydroxyl groups and stabilizers of oxyanion leaving groups. PMID:10837067

  19. Mariner transposition and transformation of the yellow fever mosquito, Aedes aegypti.

    PubMed

    Coates, C J; Jasinskiene, N; Miyashiro, L; James, A A

    1998-03-31

    The mariner transposable element is capable of interplasmid transposition in the embryonic soma of the yellow fever mosquito, Aedes aegypti. To determine if this demonstrated mobility could be utilized to genetically transform the mosquito, a modified mariner element marked with a wild-type allele of the Drosophila melanogaster cinnabar gene was microinjected into embryos of a kynurenine hydroxylase-deficient, white-eyed recipient strain. Three of 69 fertile male founders resulting from the microinjected embryos produced families with colored-eyed progeny individuals, a transformation rate of 4%. The transgene-mediated complementation of eye color was observed to segregate in a Mendelian manner, although one insertion segregates with the recessive allele (female-determining) of the sex-determining locus, and a separate insertion is homozygous lethal. Molecular analysis of selected transformed families demonstrated that a single complete copy of the construct had integrated independently in each case and that it had done so in a transposase-mediated manner. The availability of a mariner transformation system greatly enhances our ability to study and manipulate this important vector species. PMID:9520438

  20. Genetic instability in Drosophila melanogaster: evidence for regulation, excision and transposition at the white locus.

    PubMed

    Rasmuson, B; Montell, I; Rasmuson, A; Svahlin, H; Westerberg, B M

    1980-01-01

    An unstable long tandem duplication which includes the white locus twice, marked with wsp in the left and w17g in the right locus, when kept in males has been found to produce red-eyed sons which have lost the long duplication and with it the wsp and w17g mutants. Such exceptions were produced also when w17g had been exchanged for wa. Stocks originating from these exceptions are unstable, producing: 1) zeste males, also unstable, 2) w- deletions, stable, 3) transpositions of the white locus to sites in other chromosomes. The instability is interpreted as the effect of an IS element, within or adjacent to the white locus, which is supposed to retain a duplication of the proximal zeste interacting part of this locus. According to the orientation of the IS element the duplicated part can be active or inactive, giving a zeste or red eye phenotype. The frequency of exceptional offspring after X-ray treatment of the red and zeste unstable stocks have been compared to stable stocks with corresponding genotypes. PMID:6247608

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

    PubMed

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

    2006-01-01

    Abnormal neurodevelopment has been reported for infants who were born with transposition of the great arteries (TGA) and underwent arterial switch operation (ASO). This study evaluates the cerebral metabolism of TGA infants at birth and before ASO and neurodevelopment 1 year after ASO. Proton magnetic resonance spectroscopy (1H-MRS) was performed on 16 full-term TGA brains before ASO within 3-6 days after birth. The brain metabolite ratios of [NAA/Cr], [Cho/Cr], and [mI/Cr] evaluated measured. Ten infants were evaluated at 1 year using the Bayley Scales of Infants Development II (BSED II). Cerebral metabolism of infants with TGA was altered in parietal white matter (PWM) and occipital gray matter (OGM) at birth before ASO. One year after ASO, [Cho/Cr] in PWM remained altered, but all metabolic ratios in OGM were normal. The results of BSID II at 1 year showed delayed mental and psychomotor development. This delayed neurodevelopmental outcome may reflect consequences of the altered cerebral metabolism in PWM measured by 1H-MRS. It is speculated that the abnormal hemodynamics due to TGA in utero may be responsible for the impaired cerebral metabolism and the subsequent neurodevelopmental deficit. PMID:16897317

  2. Studies on the Rate and Site-Specificity of P Element Transposition

    PubMed Central

    Berg, C. A.; Spradling, A. C.

    1991-01-01

    A single genetically marked P element can be efficiently mobilized to insertionally mutagenize the Drosophila genome. We have investigated how the structure of the starting element and its location along the X chromosome influenced the rate and location of mutations recovered. The structure of two P[rosy(+)] elements strongly affected mobilization by the autonomous ``Jumpstarter-1'' element. Their average transposition rates differed more than 12-fold, while their initial chromosomal location had a smaller effect. The lethal and sterile mutations induced by mobilizing a P[rosy(+)] element from position 1F were compared with those identified previously using a P[neo(R)] element at position 9C. With one possible exception, insertion hotspots for one element were frequently also targets of the other transposon. These experiments suggested that the genomic location of a P element does not usually influence its target sites on nonhomologous chromosomes. During the course of these experiments, Y-linked insertions expressing rosy(+) were recovered, suggesting that marked P elements can sometimes insert and function at heterochromatic sites. PMID:1849859

  3. Head and neck reconstruction using cephalic vein transposition in the vessel-depleted neck.

    PubMed

    Vasilakis, Vasileios; Patel, Hasu D L; Chen, Hung-Chi

    2009-01-01

    In microvascular reconstructive surgery the patency of the recipient vessels is the key to successful outcome. In head and neck surgery there is often a lack of adequate recipient vessels as a result of chemoradiation therapy and ablative surgery. To overcome this it is crucial to identify vessels of adequate length and diameter outside the field of injury. We report our experience with cephalic vein transposition for drainage of seven free flaps--six intestinal and one osteocutaneous--for head and neck reconstruction. In five cases the cephalic vein was used during the free flap transfer and in two cases in salvage re-exploration surgery. All flaps survived completely. The anatomical course and location of the cephalic vein allow good patency and straightforward harvesting. Its vascular properties are predictive of reduced incidence of complications such as flap congestion and failure. We suggest that the cephalic vein offers a high venous flow drainage system for large free flaps and advocate its use in free intestinal transfer in the vessel-depleted neck as well as in re-exploration surgery. PMID:19530090

  4. Efficient mammalian germline transgenesis by cis-enhanced Sleeping Beauty transposition.

    PubMed

    Carlson, Daniel F; Geurts, Aron M; Garbe, John R; Park, Chang-Won; Rangel-Filho, Artur; O'Grady, Scott M; Jacob, Howard J; Steer, Clifford J; Largaespada, David A; Fahrenkrug, Scott C

    2011-02-01

    Heightened interest in relevant models for human disease increases the need for improved methods for germline transgenesis. We describe a significant improvement in the creation of transgenic laboratory mice and rats by chemical modification of Sleeping Beauty transposons. Germline transgenesis in mice and rats was significantly enhanced by in vitro cytosine-phosphodiester-guanine methylation of transposons prior to injection. Heritability of transgene alleles was also greater from founder mice generated with methylated versus non-methylated transposon. The artificial methylation was reprogrammed in the early embryo, leading to founders that express the transgenes. We also noted differences in transgene insertion number and structure (single-insert versus concatemer) based on the influence of methylation and plasmid conformation (linear versus supercoiled), with supercoiled substrate resulting in efficient transpositional transgenesis (TnT) with near elimination of concatemer insertion. Combined, these substrate modifications resulted in increases in both the frequency of transgenic founders and the number of transgenes per founder, significantly elevating the number of potential transgenic lines. Given its simplicity, versatility and high efficiency, TnT with enhanced Sleeping Beauty components represents a compelling non-viral approach to modifying the mammalian germline. PMID:20352328

  5. Controlling DNA degradation from a distance: a new role for the Mu transposition enhancer

    PubMed Central

    Choi, Wonyoung; Saha, Rudra P.; Jang, Sooin; Harshey, Rasika M.

    2014-01-01

    Summary Phage Mu is unique among transposable elements in employing a transposition enhancer. The enhancer DNA segment is the site where the transposase MuA binds and makes bridging interactions with the two Mu ends, interwrapping the ends with the enhancer in a complex topology essential for assembling a catalytically active transpososome. The enhancer is also the site at which regulatory proteins control divergent transcription of genes that determine the phage lysis-lysogeny decision. Here we report a third function for the enhancer - that of regulating degradation of extraneous DNA attached to both ends of infecting Mu. This DNA is protected from nucleases by a phage protein until Mu integrates into the host chromosome, after which it is rapidly degraded. We find that leftward transcription at the enhancer, expected to disrupt its topology within the transpososome, blocks degradation of this DNA. Disruption of the enhancer would lead to the loss or dislocation of two non-catalytic MuA subunits positioned in the transpososome by the enhancer. We provide several lines of support for this inference, and conclude that these subunits are important for activating degradation of the flanking DNA. This work also reveals a role for enhancer topology in phage development. PMID:25256747

  6. Frequent transpositions of Drosophila melanogaster HeT-A transposable elements to receding chromosome ends.

    PubMed Central

    Biessmann, H; Champion, L E; O'Hair, M; Ikenaga, K; Kasravi, B; Mason, J M

    1992-01-01

    HeT-A elements are a new family of transposable elements in Drosophila that are found exclusively in telomeric regions and in the pericentric heterochromatin. Transposition of these elements onto broken chromosome ends has been implicated in chromosome healing. To monitor the fate of HeT-A elements that had attached to broken ends of the X chromosome, we examined individual X chromosomes from a defined population over a period of 17 generations. The ends of the X chromosomes with new HeT-A additions receded at the same rate as the broken ends before the HeT-A elements attached. In addition, some chromosomes, approximately 1% per generation, had acquired new HeT-A sequences of an average of 6 kb at their ends with oligo(A) tails at the junctions. Thus, the rate of addition of new material per generation matches the observed rate of terminal loss (70-75 bp) caused by incomplete replication at the end of the DNA molecule. One such recently transposed HeT-A element which is at least 12 kb in length has been examined in detail. It contains a single open reading frame of 2.8 kb which codes for a gag-like protein. Images PMID:1330538

  7. An atypical AAA+ ATPase assembly controls efficient transposition through DNA remodeling and transposase recruitment

    PubMed Central

    Arias-Palomo, Ernesto; Berger, James M.

    2015-01-01

    Transposons are ubiquitous genetic elements that drive genome rearrangements, evolution, and the spread of infectious disease and drug-resistance. Many transposons, such as Mu, Tn7 and IS21, require regulatory AAA+ ATPases for function. We use x-ray crystallography and cryo-electron microscopy to show that the ATPase subunit of IS21, IstB, assembles into a clamshell-shaped decamer that sandwiches DNA between two helical pentamers of ATP-associated AAA+ domains, sharply bending the duplex into a 180° U-turn. Biochemical studies corroborate key features of the structure, and further show that the IS21 transposase, IstA, recognizes the IstB•DNA complex and promotes its disassembly by stimulating ATP hydrolysis. Collectively, these studies reveal a distinct manner of higher-order assembly and client engagement by a AAA+ ATPase and suggest a mechanistic model where IstB binding and subsequent DNA bending primes a selected insertion site for efficient transposition. PMID:26276634

  8. Complete mouth rehabilitation after transposition osteotomy based on intraoral scanning: an experimental approach.

    PubMed

    Güth, Jan-Frederik; Edelhoff, Daniel; Ihloff, Hela; Mast, Gerson

    2014-08-01

    This article describes the surgical and prosthodontic treatment of a patient with severe dysgnathia combined with amelogenesis imperfecta. To the authors' knowledge, this is the first treatment report to describe the application of intraoral scanning for a complete mouth reconstruction. After transposition osteotomy, the treatment included the simultaneous fabrication of antagonistic computer-aided design/computer-aided manufactured (CAD/CAM) long-term interim restorations for the maxilla and mandible and the establishment of a new centric relation position and adequate vertical dimension of occlusion. Particularly in complex situations, the major advantages of intraoral scanning can be identified as an extended magnification of the 3-dimensional digital data to control the preparation and impression at the dental office. However, the presented treatment revealed some deficiencies in the digital work flow that must be rectified. In combination with high-performance polymers, the CAD/CAM technology offers a wide range of new treatment options and simplifies the fabrication of long-term interim restorations. Although in the present treatment the esthetic and functional requirements of the patient were met, no published studies of this procedure have been based on intraoral scanning, and the approach has to be considered experimental. PMID:24529842

  9. Critical congenital heart disease screening

    PubMed Central

    Chamsi-Pasha, Mohammed A.; Chamsi-Pasha, Hassan

    2016-01-01

    Critical congenital heart disease (CCHD) is a heart lesion for which neonates require early surgical intervention to survive. Without intervention, the rates of mortality and survival with significant disability are extremely high. Early diagnosis can potentially improve health outcomes in newborns with CCHD. Until recent years, no routine screening protocol existed. In the last few years, pulse oximetry screening for CCHD in newborns has been added to the list of recommended uniform screening panels and advocated by several health-care authorities. A positive screening test result warrants an echocardiogram to evaluate for CCHD. Newborn screens do not usually require parental consent. However, most of the states mandates in the United States include a statement allowing exemption from the screen on the basis of parental religious or personal beliefs. PMID:27390667

  10. HLA typing in congenital toxoplasmosis.

    PubMed Central

    Meenken, C; Rothova, A; de Waal, L P; van der Horst, A R; Mesman, B J; Kijlstra, A

    1995-01-01

    HLA-A, HLA-B, HLA-C, and HLA-D typing was performed in 47 mothers of patients suffering from ocular toxoplasmosis to investigate whether an immunogenetic predisposition exists for developing congenital toxoplasmosis in their offspring. No significant association between any HLA antigen was observed in the mothers of patients with ocular toxoplasmosis, although a total absence of the HLA-B51 antigen was found in this group. HLA-A, HLA-B, and HLA-C typing was also performed in their children (52 patients with ocular toxoplasmosis), to investigate a possible relation between the severity of ocular toxoplasmosis and an eventual immunogenetic factor. In the patients with ocular toxoplasmosis an increased frequency of the HLA-Bw62 antigen was observed in correlation with severe ocular involvement. PMID:7612565

  11. Critical congenital heart disease screening.

    PubMed

    Chamsi-Pasha, Mohammed A; Chamsi-Pasha, Hassan

    2016-01-01

    Critical congenital heart disease (CCHD) is a heart lesion for which neonates require early surgical intervention to survive. Without intervention, the rates of mortality and survival with significant disability are extremely high. Early diagnosis can potentially improve health outcomes in newborns with CCHD. Until recent years, no routine screening protocol existed. In the last few years, pulse oximetry screening for CCHD in newborns has been added to the list of recommended uniform screening panels and advocated by several health-care authorities. A positive screening test result warrants an echocardiogram to evaluate for CCHD. Newborn screens do not usually require parental consent. However, most of the states mandates in the United States include a statement allowing exemption from the screen on the basis of parental religious or personal beliefs. PMID:27390667

  12. Prenatal sonographic diagnosis of congenital varicella syndrome.

    PubMed

    Tongsong, Theera; Srisupundit, Kasemsri; Traisrisilp, Kuntharee

    2012-01-01

    Congenital varicella syndrome is a rare disorder occurring in less than 1% of maternal varicella during early pregnancy but is associated with high fetal morbidity and mortality. This case report aimed to describe the sonographic features of congenital varicella syndrome following maternal varicella. Well-documented maternal chicken pox was made at 12 weeks of gestation and prenatal ultrasound was performed at 16 weeks. Striking sonographic features included hydropic changes and disseminated calcifications in multiple organs, especially liver and myocardium. Elective termination of pregnancy was done at 17 weeks. The presence of disseminated calcifications could suggest the diagnosis of congenital varicella syndrome. PMID:22323269

  13. Ventricular Tachycardia in Congenital Pulmonary Stenosis.

    PubMed

    Ruckdeschel, Emily Sue; Schuller, Joseph; Nguyen, Duy Thai

    2016-03-01

    With modern surgical techniques, there is significantly increased life expectancy for those with congenital heart disease. Although congenital pulmonary valve stenosis is not as complex as tetralogy of Fallot, there are many similarities between the 2 lesions, such that patients with either of these conditions are at risk for ventricular arrhythmias and sudden cardiac death. Those patients who have undergone surgical palliation for congenital pulmonary stenosis are at an increased risk for development of ventricular arrhythmias and may benefit from a more aggressive evaluation for symptoms of palpitations or syncope. PMID:26920196

  14. A CORRECTION.

    PubMed

    Johnson, D

    1940-03-22

    IN a recently published volume on "The Origin of Submarine Canyons" the writer inadvertently credited to A. C. Veatch an excerpt from a submarine chart actually contoured by P. A. Smith, of the U. S. Coast and Geodetic Survey. The chart in question is Chart IVB of Special Paper No. 7 of the Geological Society of America entitled "Atlantic Submarine Valleys of the United States and the Congo Submarine Valley, by A. C. Veatch and P. A. Smith," and the excerpt appears as Plate III of the volume fist cited above. In view of the heavy labor involved in contouring the charts accompanying the paper by Veatch and Smith and the beauty of the finished product, it would be unfair to Mr. Smith to permit the error to go uncorrected. Excerpts from two other charts are correctly ascribed to Dr. Veatch. PMID:17839404

  15. Transpositional activation of mPing in an asymmetric nuclear somatic cell hybrid of rice and Zizania latifolia was accompanied by massive element loss.

    PubMed

    Shan, X H; Ou, X F; Liu, Z L; Dong, Y Z; Lin, X Y; Li, X W; Liu, B

    2009-11-01

    We have reported previously that the most active miniature inverted terminal repeat transposable element (MITE) of rice, mPing, was transpositionally mobilized in several rice recombinant inbred lines (RILs) derived from an introgressive hybridization between rice and wild rice (Zizania latifolia Griseb.). To further study the phenomenon of hybridization-induced mPing activity, we undertook the present study to investigate the element's behavior in a highly asymmetric somatic nuclear hybrid (SH6) of rice and Z. latifolia, which is similar in genomic composition to that of the RILs, though probably contains more introgressed alien chromatins from the donor species than the RILs. We found that mPing, together with its transposase-donor, Pong, underwent rampant transpositional activation in the somatic hybrid (SH6). Because possible effects of protoplast isolation and cell culture can be ruled out, we attribute the transpositional activation of mPing and Pong in SH6 to the process of asymmetric somatic hybridization, namely, one-step introgression of multiple chromatin segments of the donor species Z. latifolia into the recipient rice genome. A salient feature of mPing transposition in the somatic hybrid is that the element's activation was accompanied by massive loss of its original copies, i.e., abortive transpositions, which was not observed in previously reported cases of mPing activity. These data not only corroborated our earlier finding that wide hybridization and introgression may trigger transpositional activation of otherwise quiescent transposable elements, but also suggest that transpositional mobilization of a MITE like mPing can be accompanied by dramatic reduction of its original copy numbers under certain conditions, thus provide novel insights into the dynamics of MITEs in the course of genome evolution. PMID:19711051

  16. Genetics Home Reference: congenital afibrinogenemia

    MedlinePlus

    ... on PubMed Neerman-Arbez M, Honsberger A, Antonarakis SE, Morris MA. Deletion of the fibrinogen [correction of ... Dreyfus M, Laubriat-Bianchin M, Dieval J, Antonarakis SE, Morris MA. Mutations in the fibrinogen aalpha gene ...

  17. Parental perceptions of congenital cardiovascular malformations in their children.

    PubMed

    Ezzat, Sameera; Saeedi, Osamah; Saleh, Doa'a A; Hamzeh, Hala; Hamid, Mohamed A; Crowell, Nancy; Boostrom, Camille; Loffredo, Christopher A; Jillson, Irene A

    2016-08-01

    We assessed parental attitudes towards congenital cardiovascular malformations in their children in a cross-sectional study in Egypt. Parents face many problems related to concerns about their child's prognosis, but these associations with parental stress have never been evaluated in Egypt or examined in relation to religiosity in a predominantly Muslim society. Accordingly, we conducted interviews in Cairo with mothers of 99 sequential infants born with conotruncal heart malformations (cases) and 65 mothers of age-matched controls. The survey assessed healthcare access and usage, knowledge of congenital cardiovascular malformations, religiosity, the Locus of Control Scale, and the Parenting Stress Index. Results showed that 45% of the mothers of cases had correct knowledge about their child's diagnosis; 85% were satisfied with the clinical care; and 79% reported that the cost of care was burdensome. Compared with parents of cases, parents of controls were more likely to report stress overall and all its subscales. Regarding belief about locus of control over health, God as a determining factor was given the highest endorsement. Mothers in the congenital cardiovascular malformations group reported a higher level of parental locus of control than did those in the control group. The correlations between stress and locus of control were stronger in the control than in the case group. Religiosity was related neither to stress nor to locus of control. Future studies can explore the roles that personal, familial, and societal factors play in exacerbating or reducing stress levels among parents of sick children, particularly in developing countries where economic pressures are acute. PMID:26561359

  18. Surgical correction of torsion of the penis.

    PubMed

    Azmy, A; Eckstein, H B

    1981-08-01

    Torsion of the penis is a rare anomaly, believed to be due to abnormal skin attachment and not to any structural abnormality of the corpora. The rotation is usually to the left in a counter-clockwise fashion. The urethral meatus is placed in a oblique position and the median raphe makes a spiral curve from the base of the penis towards the meatus. Three boys with congenital torsion of the penis are reported. A corrective operative for this condition is described. Penile torsion was first described by Verneuil in 1857, but in the past no operative correction was recommended, since attempts to move the skin around were believed not to correct the spiral alignment of the corpora cavernosa. PMID:7260553

  19. Living with a Congenital Heart Defect

    MedlinePlus

    ... well the heart’s chambers and valves are working. Health Insurance and Employment Adults who have congenital heart defects ... carefully consider how changing jobs will affect their health insurance coverage. Some health plans have waiting periods or ...

  20. Congenital urethrocutaneous fistula in an adolescent male

    PubMed Central

    Kale, Satish M.; Mody, Nikunj B.; Patil, Surendra B.; Sadawarte, Pranam

    2015-01-01

    A urethrocutaneous fistula is a common complication after hypospadias repair, but congenital fistula is a rare anomaly. We present a 16-year-old boy with this unusual anomaly. Its etiology, embryology, and management are discussed in brief. PMID:26424989

  1. Congenital and Genetic Disease in Domestic Animals

    ERIC Educational Resources Information Center

    Mulvihill, John J.

    1972-01-01

    Reviews observations on domestic animals that have led to the identification of environmental teratogens, and have provided insight into the pathogenesis of congenital defects and genetic diseases in man." (Author/AL)

  2. Missed congenital hypothyroidism in an identical twin.

    PubMed

    Azam, Anita; Cutfield, Wayne; Mouat, Fran; Hofman, Paul L; Jefferies, Craig; Webster, Dianne; Gunn, Alistair Jan

    2012-10-01

    Newborn screening for congenital hypothyroidism has been remarkably effective, although rare cases of false negative screening have been reported in same sex twins, presumptively due to fetal blood exchange. We report a case in which the diagnosis of congenital hypothyroidism due to thyroid ectopia in a monozygotic twin was delayed by 8 months, with a normal newborn screening TSH level of 11 mIU/L blood (normal < 15 mIU/L) at 2 days of life. This is the first such case since the national New Zealand newborn screening programme introduced screening for congenital hypothyroidism in 1981 (30 years ago). Repeating thyroid studies at 14 days of age in same-sex twins has been advocated to avoid delayed diagnosis, but given the low risk, may not be cost effective. It is important to maintain a high index of suspicion in same-sex twin pregnancies of potential congenital hypothyroidism. PMID:22970836

  3. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    MedlinePlus

    ... and walking. Fukuyama congenital muscular dystrophy also impairs brain development. People with this condition have a brain abnormality ... cobblestones). These changes in the structure of the brain lead to significantly delayed development of speech and motor skills and moderate to ...

  4. Genetics Home Reference: autosomal recessive congenital methemoglobinemia

    MedlinePlus

    ... congenital methemoglobinemia is caused by mutations in the CYB5R3 gene. This gene provides instruction for making an ... isoforms) of this enzyme are produced from the CYB5R3 gene. The soluble isoform is present only in ...

  5. Genetics Home Reference: congenital mirror movement disorder

    MedlinePlus

    ... throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected. People with congenital ... movement. Normally, signals from each half of the brain control movements on the opposite side of the ...

  6. Genetics Home Reference: congenital insensitivity to pain

    MedlinePlus

    ... have a complete loss of the sense of smell (anosmia). Congenital insensitivity to pain is considered a ... to cells that detect sensations such as touch, smell, and pain. Related Information What does it mean ...

  7. Digenic mutations in severe congenital neutropenia

    PubMed Central

    Germeshausen, Manuela; Zeidler, Cornelia; Stuhrmann, Manfred; Lanciotti, Marina; Ballmaier, Matthias; Welte, Karl

    2010-01-01

    Severe congenital neutropenia a clinically and genetically heterogeneous disorder. Mutations in different genes have been described as causative for severe neutropenia, e.g. ELANE, HAX1 and G6PC3. Although congenital neutropenia is considered to be a group of monogenic disorders, the phenotypic heterogeneity even within the yet defined genetic subtypes points to additional genetic and/or epigenetic influences on the disease phenotype. We describe congenital neutropenia patients with mutations in two candidate genes each, including 6 novel mutations. Two of them had a heterozygous ELANE mutation combined with a homozygous mutation in G6PC3 or HAX1, respectively. The other 2 patients combined homozygous or compound heterozygous mutations in G6PC3 or HAX1 with a heterozygous mutation in the respective other gene. Our results suggest that digenicity may underlie this disorder of myelopoiesis at least in some congenital neutropenia patients. PMID:20220065

  8. Congenital esophageal stenosis owing to tracheobronchial remnants

    PubMed Central

    Rebelo, Priscila Guyt; Ormonde, João Victor C.; Ormonde, João Baptista C.

    2013-01-01

    OBJECTIVE To emphasize the need of an accurate diagnosis of congenital esophageal stenosis due to tracheobronchial remnants, since its treatment differs from other types of congenital narrowing. CASE DESCRIPTION Four cases of lower congenital esophageal stenosis due to tracheobronchial remnants, whose definitive diagnosis was made by histopathology. Except for the last case, in which a concomitant anti-reflux surgery was not performed, all had a favorable outcome after resection and anastomosis of the esophagus. COMMENTS The congenital esophageal stenosis is an intrinsic narrowing of the organâ€(tm)s wall associated with its structural malformation. The condition can be caused by tracheobronchial remnants, fibromuscular stenosis or membranous diaphragm and the first symptom is dysphagia after the introduction of solid food in the diet. The first-choice treatment to tracheobronchial remnants cases is the surgical resection and end-to-end anastomosis of the esophagus. PMID:24142326

  9. Genetics Home Reference: congenital diaphragmatic hernia

    MedlinePlus

    ... Center: Congenital Diaphragmatic Hernia University of Michigan Health System These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: Diagnostic Tests Drug Therapy ...

  10. Genetics Home Reference: congenital generalized lipodystrophy

    MedlinePlus

    ... an abnormal heart rhythm (arrhythmia) that can cause sudden death. People with congenital generalized lipodystrophy have a distinctive ... stenosis), and severe arrhythmia that can lead to sudden death. Related Information What does it mean if a ...

  11. Genetics Home Reference: congenital central hypoventilation syndrome

    MedlinePlus

    ... central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008 Jan;43(1):77-86. ... Rand CM. Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation. Respir ...

  12. METROPOLITAN ATLANTA CONGENITAL DEFECTS PROGRAM (MACDP)

    EPA Science Inventory

    The Metropolitan Atlanta Congenital Defects Program (MACDP) was established in 1967 by the Centers for Disease Control and Prevention with Emory University and the Georgia Mental Health Institute as the nation's first population-based active ascertainment birth defects surveillan...

  13. Genetics Home Reference: congenital myasthenic syndrome

    MedlinePlus

    ... Advocacy Resources (2 links) Muscular Dystrophy Association Myasthenia Gravis Foundation of America: Congenital Myasthenia GeneReviews (1 link) ... for professional medical care or advice. Users with questions about a personal health condition should consult with ...

  14. The "harlequin" sign and congenital Horner's syndrome.

    PubMed Central

    Morrison, D A; Bibby, K; Woodruff, G

    1997-01-01

    When trying to establish the likely anatomical site (preganglionic or postganglionic) of a lesion causing congenital Horner's syndrome, the distribution of facial flushing (the "harlequin" sign), may be seen. In babies and young children, facial flushing is a relatively simple clinical sign to demonstrate, compared with facial sweating. In unilateral facial flushing the areas that do not flush are almost always identical to the anhidrotic areas. However, neither facial flushing nor testing the pupil reactions with pholedrine or hydroxyamphetamine can be relied on to predict the probable site of any lesion causing congenital Horner's syndrome. Two patients with congenital Horner's syndrome are presented which demonstrated the "harlequin" sign and in whom clinical examination and pharmacological testing gave conflicting evidence for localisation of the site of the causative lesion. The presentation of congenital Horner's syndrome should be investigated and include MRI or CT to exclude a serious underlying cause. Images PMID:9219751

  15. Congenital anomalies after assisted reproductive technology.

    PubMed

    Pinborg, Anja; Henningsen, Anna-Karina Aaris; Malchau, Sara Sofie; Loft, Anne

    2013-02-01

    Worldwide, more than 5 million children have been born after assisted reproductive technology (ART), and in many developed countries ART infants represent more than 1% of the birth cohorts. It is well known that ART children are at increased risk of congenital malformations even after adjustment for known confounders such as maternal age. The proportion of ART children is not negligible, and knowledge about the causes of the higher risk of congenital malformations is crucial to develop prevention strategies to reduce the future risk in ART children. The aim of this review is to summarize the literature on the association between ART and congenital anomalies with respect to subfertility, fertility treatment other than ART, and different ART methods including intracytoplasmic sperm injection, blastocyst culture, and cryotechniques. Trends over time in ART and congenital anomalies will also be discussed. PMID:23290686

  16. Screening programme for congenital toxoplasmosis in France.

    PubMed

    Thulliez, P

    1992-01-01

    The high prevalence of Toxoplasma gondii infection in France led to the establishment of a national screening programme. Preventive measures were progressively introduced, and these became compulsory in 1978 with the result that the incidence of congenital toxoplasmosis is now markedly reduced. Further improvements may include more systematic sampling from women before pregnancy, better and adequate health education and centralized notification of both maternal and congenital cases of toxoplasmosis. PMID:1290073

  17. Cutaneous mastocytosis associated with congenital alopecia.

    PubMed

    Kim, Cho Rok; Kim, Hyun-Je; Jung, Mi-Young; Lee, Jae-Hyung; Park, Ji-Hye; Lee, Dong-Youn; Lee, Joo-Heung; Yang, Jun-Mo

    2012-07-01

    Mastocytosis is a rare disorder that shows accumulation of mast cells in tissues. Atypical clinical features may mimic impetigo, Langerhans cell histiocytosis, and carcinoid syndrome; however, only 1 case of scarring alopecia associated with mastocytosis has been reported. We present the first case of cutaneous mastocytosis associated with congenital alopecia areata in a 3-year-old Korean girl. This case showed an atypical clinical presentation of congenital alopecia areata, but histopathological results confirmed the diagnosis of cutaneous mastocytosis. PMID:22356916

  18. Congenital diseases of the gastrointestinal tract.

    PubMed

    Lentze, M

    2014-05-01

    With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www.ncbi.nlm.nih.gov/omim). Detailed tables are given to find most of the congenitally inherited disease, which affect the gastrointestinal tract. A variety of congenital diarrheas with disturbances of digestion, hydrolysis, absorption and secretion is described in detail: lactose intolerance, sucrose intolerance, glucose-galactose malabsorption, fructose malabsorption, trehalase and enterokinase deficiency, congenital chloride and sodium diarrhea, congenital hypomagnesaemia, primary bile acid malabsorption, acrodermatitis enteropathica and Menke's syndrome. Also described in detail are diseases with structural anomalies of the intestine like microvillous inclusion disease, congenital tufting enteropathy and IPEX syndrome. The diagnosis in the disturbances of carbohydrate hydrolysis or absorption can be established by H2-breath tests after appropriate sugar challenge. Treatment consists of elimination of the responsible sugar from the diet. The diagnosis of the congenital secretory diarrheas is established by investigation of electrolytes in blood and stool. Substitution of high doses of the responsible mineral can improve the clinical outcome. In acrodermatitis enteropathica low serum zinc level together with the typical skin lesions guide to the diagnosis. High doses of oral zinc aspartate can cure the symptoms of the disease. The diagnosis of structural congenital lesions of the intestine can be established by histology and

  19. An unusual presentation of congenital bronchoesophageal fistula.

    PubMed

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

    2004-01-01

    We present the case of a 5-week-old neonate with multiple congenital abnormalities including a broncho-oesophageal fistula, which showed radiological features suggestive of congenital diaphragmatic hernia. Emergency limited barium swallow done was initially reported as a case of diaphragmatic hernia. Autopsy revealed pus within the right lung, and a fistulous connection between the oesophagus and an intralobar sequestrated lung. No diaphragmatic hernia or intra-abdominal organ abnormality were seen, and an occipital meningomyelocoele was also confirmed. PMID:15171538

  20. Surgical correction of anomalous origin of right pulmonary artery from aorta in a four day old neonate.

    PubMed Central

    Sibley, Y D; Roberts, K D; Silove, E D

    1986-01-01

    A two day old neonate presented with cyanosis. The echocardiogram was misinterpreted as showing transposition of the great arteries. Cardiac catheterisation was performed the next day and showed anomalous origin of the right pulmonary artery from the aorta. Surgical correction at the age of 4 days was successful. At the age of nine months the patient was symptom free with "normal" cardiac anatomy. This patient is the youngest case to have successful correction of this anomaly. The initial misinterpretation of the echocardiogram could have had serious consequences if balloon atrial septostomy had been attempted. Images Fig. 1 Fig. 2 PMID:3730211