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Sample records for congenital corrected transposition

  1. 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

  2. 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

  3. [Congenitally corrected transposition of the great arteries in patient with atrial septal defect and acute inferior segment myocardial infarction].

    PubMed

    Tosun, Veysel; Korucuk, Necmettin; Karakaş, Mustafa Mustafa; Güntekin, Ünal

    2016-09-01

    Congenitally corrected transposition of the great arteries is a rare abnormality accounting for approximately 1% of clinically apparent congenital heart disease. Age at time of diagnosis and survival rate vary and depend on associated anomalies, including pulmonary stenosis, ventricular septal defect, atrial septal defect, atrioventricular block, and atrioventricular valve regurgitation. Reported cases of corrected transposition of the great arteries with single coronary ostium anomaly and atrial septal defect are very rare. Described in the present report is the case of a 55-year-old male who presented with acute inferior ST-segment elevation myocardial infarction and coincidental single coronary ostium arising from the right sinus of Valsalva, as observed on coronary angiography. Successful balloon angioplasty and stenting of the circumflex artery were performed. Echocardiography demonstrated the corrected transposition of the great arteries with negative contrast enhancement between the atrial chambers. The patient was discharged with medical therapy on the eighth postoperative day. To our knowledge, the present is the first report to describe corrected transposition of the great arteries, atrial septal defect, single coronary ostium, and acute myocardial infarction as comorbidities. PMID:27665336

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

    PubMed Central

    Placci, Angelo; Lovato, Luigi; Bonvicini, Marco

    2014-01-01

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

  5. Prenatal Diagnosis and Postnatal Follow-up of congenitally corrected transposition of the great arteries and recurrent supraventricular tachycardia

    PubMed Central

    Kibar, AE; Hallioglu, O; Erdem, S; Celik, I

    2013-01-01

    The prenatal sonographic diagnosis of congenitally corrected transposition of the great arteries (ccTGA), a rare form of congenital heart disease is very difficult. A24-year-old woman was referred to our center at 28 weeks’ gestationbecause of suspected fetal cardiac anomalies. We report a case of ccTGA with supraventricular tachycardia, ventricular septal defect, pulmonary valve stenosis, tricuspid valvar displacement and moderate tricuspid regurgitation during her pregnancy. The combined presence of SVT and ccTGA are occasionally present in the literature. PMID:23720695

  6. 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

  7. 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.

  8. The use of a CircuLite micro-pump for congenitally corrected transposition of the great arteries.

    PubMed

    Jacobs, Steven; Rega, Filip; Burkhoff, Daniel; Meyns, Bart

    2012-10-01

    We report a case of a 49-year old male with a congenitally corrected transposition of the great arteries (ccTGA) implanted with a left atrial to right subclavian artery ventricular assist device (CircuLite) because of the failure of the anatomic right (systemic) ventricle. Additionally, elevated pulmonary pressures and peripheral vascular resistance (7.4 Wood units) prevented him from being put on the transplant list. The implant, performed off-pump through a right minithoracotomy, was uncomplicated and there were no adverse events. Within 1 month of the implant, there was a marked improvement in exercise tolerance and decreases in pulmonary pressures and resistance, so that the patient was able to return to work and became eligible for transplant listing. As of the time of writing, the patient has been supported for 10 months and is awaiting a heart transplant.

  9. Correction of brachymetatarsia with transpositional metatarsal osteotomies.

    PubMed

    Frankel, J P; Fleishman, J H

    1991-01-01

    The authors present a case history that illustrates their surgical procedure to correct congenital hypoplastic metatarsals. The literature is reviewed, and surgical alternatives are discussed. Treatment consisted of transpositional osteotomies performed between the fourth and fifth metatarsals with good results. PMID:2002181

  10. [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.

  11. Effects of morphologic left ventricular pressure on right ventricular geometry and tricuspid valve regurgitation in patients with congenitally corrected transposition of the great arteries.

    PubMed

    Kral Kollars, Catharine A; Gelehrter, Sarah; Bove, Edward L; Ensing, Gregory

    2010-03-01

    Congenitally corrected transposition of the great arteries (CCTGA) is associated with tricuspid regurgitation (TR), which has been postulated to arise from the effect of ventricular septal position on the attachments of the tricuspid valve. This study was performed to determine the effect of left ventricular (LV) pressure on right ventricular (RV) and LV geometry and the degree of TR. Serial echocardiograms were reviewed from, 30 patients with CCTGA who underwent pulmonary artery banding to train the morphologic left ventricle (n = 14) or left ventricle-to-pulmonary artery conduit placement and ventricular septal defect closure in conjunction with physiologic repair (n = 16). The degree of TR, the LV/RV pressure ratio, RV and LV sphericity indexes, and tricuspid valve tethering distance and coaptation length were analyzed. After pulmonary artery banding, an increase in LV systolic pressure to > or =2/3 systemic resulted in a decrease in TR from severe to moderate (p = 0.02). The percentage of patients with severe TR decreased from 64% to 18% (p = 0.06). The RV sphericity index decreased (p = 0.05), and the LV sphericity index increased (p = 0.02). After left ventricle-to-pulmonary artery conduit placement, a decrease in LV pressure to < or =1/2 systemic resulted in an increase in TR from none to mild (p = 0.003). In conclusion, these data indicate that LV pressure in patients with CCTGA affects the degree of TR and that septal shift caused by changes in LV and RV pressure is an important mechanism.

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

    PubMed Central

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

    2014-01-01

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

  13. Surgical repair of lesions associated with corrected transposition. Late results.

    PubMed Central

    Metcalfe, J; Somerville, J

    1983-01-01

    Between 1970 and 1980 19 patients aged 13 months to 47 years (mean 16 years) had surgical repair of lesions associated with corrected transposition. Four had had previous palliative surgery. Operations were performed for ventricular septal defects in 17 (multiple in two), and in addition 10 had relief of pulmonary stenosis, three had atrial septal defects closed, and three had valve replacement for left atrioventricular valve regurgitation. Two patients had annuloplasty for isolated left atrioventricular valve regurgitation. There was a high operative mortality (37%). Twelve survivors left hospital and were followed up for three to eight years. There is concern about the high incidence of left atrioventricular valve regurgitation and progressive postoperative left sided ventricular dysfunction. Heart block after surgical intervention contributes to this, and careful pacemaker policies are necessary as two late deaths were related to this. Only one patient is asymptomatic and without complications 40 months after operation. These disappointing late results are partly related to the onset of heart block, but it seems that independent systemic ventricular function may deteriorate in some patients. Thus surgical treatment of lesions associated with corrected transposition should be recommended only in those with important symptoms or signs of changing systemic ventricular dysfunction. PMID:6639819

  14. 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. PMID:27625528

  15. 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

  16. Transvenous cardiac resynchronization therapy in complex congenital heart diseases: dextrocardia with transposition of the great arteries after Mustard operation.

    PubMed

    Zartner, Peter A; Wiebe, Walter; Volkmer, Marius; Thomas, Daniel; Schneider, Martin

    2009-04-01

    Cardiac resynchronization therapy revealed first promising results in patients with a congenital heart disease and a systemic right ventricle. Contrast-enhanced magnetic resonance imaging showed accessibility of the coronary sinus in an 18-year-old male patient with mirror dextrocardia, d-transposition of the great arteries and ventricular septal defect (VSD) after Mustard operation and VSD patch closure. In literatures, transvenous lead placement is discussed in this anatomical setting, with opposed position of the ventricular leads and reliable lead characteristics.

  17. A case of congenitally protected d-transposition of the great arteries in a very low-birth-weight infant.

    PubMed

    Woodson, K E; Sable, C A; Berger, J T; Slack, M C; Wernovsky, G; Spray, T L

    2003-01-01

    An arterial switch is the corrective procedure of choice for d-transposition of the great arteries but may be associated with increased morbidity and mortality when performed in low-birth-weight infants. Conversely, delaying surgery often leads to left ventricular "deconditioning" as pulmonary arteriolar resistance decreases. We present an infant with a birth weight of 940 g with d-transposition of the great arteries with an intact ventricular septum whose bilateral pulmonary artery branch stenosis allowed for maintenance of near systemic left ventricular pressure, thereby protecting against deconditioning. This case also represents the smallest reported patient to undergo a successful balloon atrial septostomy. PMID:12399905

  18. A novel case of L-transposition with a right-dominant double aortic arch.

    PubMed

    Goldberg, David J; Glatz, Jenifer; Weinberg, Paul M; Gillespie, Matthew J

    2009-01-01

    We describe a case of congenitally corrected transposition with a double aortic arch. This unique combination of lesions highlights the importance of a complete anatomic assessment prior to referral for surgery. PMID:19664032

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

    PubMed Central

    Frescura, Carla; Thiene, Gaetano

    2016-01-01

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

  20. 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.

  1. One-stage neonatal corrective repair for d-transposition of the great arteries and complete atrio-ventricular canal.

    PubMed

    Bautista-Hernandez, Victor; Marx, Gerald R; del Nido, Pedro J

    2007-01-01

    Association of d-transposition of the great arteries and complete atrio-ventricular canal constitutes an uncommon and complex cardiac anomaly usually associated with poor prognosis. We report our experience on one-stage neonatal repair for d-transposition of the great arteries and complete atrio-ventricular canal. Between August 1997 and 2005, four patients (two males and two females) underwent anatomical correction for d-transposition of the great arteries and complete atrio-ventricular canal using an arterial switch procedure and two-patch repair. Mean age and weight at operation were 20 days (range from 3 to 28 days) and 3.2kg (range from 2.7 to 3.5kg), respectively. None of the patients received preoperative palliative procedure. Associated lesions were left outflow tract obstruction in three patients and multiple muscular ventricular septal defects in two patients. All four patients survived the operation. There was one in-hospitality death due to fungal sepsis. One patient required late re-operation for left ventricular outflow tract obstruction and left atrio-ventricular valve regurgitation. For a mean follow-up of 67 months (range from 51 to 90 months) all patients are asymptomatic and with no residual defects. Corrective repair of d-transposition of the great arteries and complete atrio-ventricular canal can be successfully achieved in this very challenging population during the neonatal period. PMID:17110123

  2. [Transposition of Great Artery].

    PubMed

    Konuma, Takeshi; Shimpo, Hideto

    2015-07-01

    Transposition of the great artery is one of common congenital cardiac disease resulting cyanosis. Death occurs easily in untreated patients with transposition and intact ventricular septal defect (VSD) in infancy at a few days of age when posterior descending coronary artery (PDA) closed. Since there are 2 parallel circulations, flow from pulmonary to systemic circulation is necessary for systemic oxygenation, and Balloon atrial septostomy or prostaglandin infusion should be performed especially if patient do not have VSD. Although the advent of fetal echocardiography, it is difficult to diagnose the transposition of the great arteries (TGA) as abnormality of great vessels is relatively undistinguishable. The diagnosis of transposition is in itself an indication for surgery, and arterial switch procedure is performed in the case the left ventricle pressure remains more than 2/3 of systemic pressure. Preoperative diagnosis is important as associated anomalies and coronary artery branching patterns are important to decide the operative indication and timing of surgery.

  3. Echocardiographic evaluation of coronary arteries in congenital heart disease.

    PubMed

    Freire, Grace; Miller, Michelle S

    2015-12-01

    Among populations of patients with the congenital heart disease, there is considerable diversity in the anatomy of the coronary arteries. Understanding these anatomical differences is vitally important in directing interventions and surgical repair. In this report, the authors describe the echocardiographic evaluation of the variants of coronary artery anatomy in the following lesions: transposition of the great arteries, congenitally corrected transposition of the great arteries, double-inlet left ventricle, common arterial trunk, tetralogy of Fallot, and double-outlet right ventricle.

  4. Current techniques in surgical correction of congenital ptosis.

    PubMed

    Allard, Felicia D; Durairaj, Vikram D

    2010-04-01

    Ptosis refers to vertical narrowing of the palpebral fissure secondary to drooping of the upper eyelid to a lower than normal position. Ptosis is considered congenital if present at birth or if it is diagnosed within the first year of life. Correction of congenital ptosis is one of the most difficult challenges ophthalmologists face. Multiple surgical procedures are available including, frontalis sling, levator advancement, Whitnall sling, frontalis muscle flap, and Mullerectomy. Selection of one technique over another depends on the consideration of several factors including the surgeon experience, the degree of ptosis in the patient, as well as the degree of levator muscle function. Current recommendations for the correction of congential ptosis vary based on clinical presentation. Advantages and disadvantages of each of these procedures are presented with recommendations to avoid complications. PMID:20616918

  5. 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

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

    PubMed

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

    2015-01-01

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

  7. Expanding the Limits of Posterior Aortic Translocation: Biventricular Correction of Complex Transposition With Complete Atrioventricular Septal Defect and Heterotaxy.

    PubMed

    Sugiura, Junya; Bierbach, Benjamin; Hraska, Viktor

    2016-02-01

    This case report describes successful repair of d-transposition of the great arteries with severe left ventricular outflow tract obstruction and complete atrioventricular septal defect associated with heterotaxy by the use of posterior aortic translocation combined with repair of the atrioventricular septal defect and systemic venous anomalies. PMID:26777936

  8. Correction of congenital brachymetatarsia by gradual callus distraction.

    PubMed

    Houshian, Shirzad; Skov, Ole; Weeth, Rainer E

    2002-01-01

    Two children with congenital brachymetatarsia of the fourth metatarsal bone were treated by osteotomy of the metatarsal bone and bone lengthening by the Ilizarov technique. Both children were cosmetically improved. PMID:12564818

  9. Adolescents with d-Transposition of the Great Arteries Corrected with the Arterial Switch Procedure: Neuropsychological Assessment and Structural Brain Imaging

    PubMed Central

    Bellinger, David C.; Wypij, David; Rivkin, Michael J.; DeMaso, David R.; Robertson, Richard L.; Dunbar-Masterson, Carolyn; Rappaport, Leonard A.; Wernovsky, Gil; Jonas, Richard A.; Newburger, Jane W.

    2011-01-01

    Background We report on neuropsychological and structural brain imaging assessments at age 16 years in children with d-transposition of the great arteries (d-TGA) who underwent the arterial switch operation (ASO) as infants. Children were randomly assigned to a vital organ support method, deep hypothermia with either total circulatory arrest or continuous low-flow cardiopulmonary bypass. Methods and Results Of 159 eligible adolescents, 139 (87%) participated. Academic achievement, memory, executive functions, visual-spatial skills, attention, and social cognition were assessed. Few significant treatment group differences were found. The occurrence of seizures in the post-operative period was the medical variable most consistently related to worse outcomes. The scores of both treatment groups tended to be lower than those of the test normative populations, with substantial proportions scoring 1 or more standard deviations below the expected mean. Although the test scores of most adolescents in this trial cohort are in the average range, a substantial proportion has received remedial academic or behavioral services (65%). MRI abnormalities were more frequent in the d-TGA group (33%) than in a referent group (4%). Conclusions Adolescents with d-TGA who have undergone the arterial switch operation are at increased neurodevelopmental risk. These data suggest that children with congenital heart disease may benefit from ongoing surveillance to identify emerging difficulties. Clinical Trial Registration NCT00000470, http://clinicaltrials.gov PMID:21875911

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

    PubMed

    Han, B Kelly; Lesser, John R

    2013-01-01

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

  11. 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

  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. 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.…

  14. [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

  15. 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

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

    PubMed Central

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

    2005-01-01

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

  17. 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

  18. Array Transposition in SSD

    NASA Technical Reports Server (NTRS)

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

    1998-01-01

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

  19. Array Transposition in SSD

    NASA Technical Reports Server (NTRS)

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

    1989-01-01

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

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

    PubMed Central

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

    2012-01-01

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

  1. 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

  2. Prenatal diagnosis of congenital anomalies requiring surgical correction. Implications for the future.

    PubMed

    Dibbins, A W; Curci, M R; McCrann, D J

    1985-04-01

    With the use of maternal ultrasonography, 22 infants had an anomaly identified before delivery. Nine had gastrochisis. In all, ultrasonography was performed because of an elevated maternal serum alpha 1 fetoprotein level. Ultrasonography for other indications identified three infants with omphaloceles, three with cystic adenomatoid malformation of the lung, two with duodenal atresia, two with posterior urethral valves, and one each with obstruction of the ureteropelvic junction, a retroperitoneal teratoma, and an ovarian cyst. Infants were delivered in a neonatal center able to provide total care from the time of birth, thus the risks of transport over long distances were avoided. One of the infants with cystic adenomatoid malformation was incorrectly diagnosed as having a congenital diaphragmatic hernia, and the complete posterior urethral valve bilateral hydronephrosis complex was not identified in this infant until after delivery. The ability to diagnose complex anomalies correctly places new responsibilities on the surgeon who must counsel the parents on his ability to successfully treat the identified anomaly. Improved diagnostic accuracy, increased case findings, careful counselling, and delivery of high-risk infants in regional centers must be major priorities to improve neonatal surgical care in the next decade.

  3. Transposition Musical Chairs

    ERIC Educational Resources Information Center

    Yankosky, Bill

    2008-01-01

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

  4. 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

  5. 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

  6. 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.

  7. Pectus excavatum and carinatum: new concepts in the correction of congenital chest wall deformities in the pediatric age group.

    PubMed

    Mavanur, Arun; Hight, Donald W

    2008-01-01

    A wide range of congenital chest wall deformities have been described over the years. The spectrum of severity may range from life threatening deformities such as cordis ectopia to those which pose functional limitations as growth and maturity approach adulthood. Until recently, pectus excavatum (PE) and carinatum(PC) malformations have generally been considered as primarily cosmetic abnormalities. "Open" surgical procedures to correct PE and PC involved extensive resection of cartilage and bone to remove the bony deformity often with lasting growth restriction of the chest wall. Minimally invasive surgery has recently been reported as an effective technique in correcting PE without removing healthy chest wall structures. Nonoperative bracing has been effectively applied to PC eliminating traditional surgical methods. This report presents the experience at the Connecticut Children's Medical Center (CCMC) in the treatment of these two common deformities using new, less invasive methods with excellent long-term results. PMID:18286876

  8. 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

  9. Ectopic Hydrocele After Testicular Transposition.

    PubMed

    Berli, Jens U; Zelken, Jonathan; Schuyler, Kyle; Naslund, Michael; Rasko, Yvonne

    2016-04-01

    A 55-year-old man was treated for Fournier gangrene in 2004 with radical debridement and bilateral testicular transposition to the medial thighs. Eight years later, bilateral hydroceles formed. After conservative measures failed for treatment of the hydroceles, the condition was treated during desired testicular relocation, and creation of a neoscrotum. In the case presented, bilateral thigh hydroceles may have developed from lymphatic injury during testicular transposition. To our knowledge, this is the first case report of bilateral hydrocele testis in the medial thigh pouches following ectopic testicular transposition.

  10. Redundancy and Transposition in English.

    ERIC Educational Resources Information Center

    Sarhady, T.

    2003-01-01

    Investigates the relationship between redundancy and transposition in scientific texts. Highlights different traditional and discoursal theories of redundancy. Analyzed 20 self-contained scientific texts; results show that most of the sample texts follow similar organization. (Author/VWL)

  11. Modified Senning Procedure for Correction of Atrioventricular Discordance With Total Anomalous Pulmonary Venous Return, Atrial Situs Inversus, Dextrocardia, and Bilateral Superior Venae Cavae.

    PubMed

    Sebastian, Vinod A; Guleserian, Kristine J; Juraszek, Amy; Kane, Colin; Hamzeh, Rabih; Forbess, Joseph M

    2015-10-01

    The Senning and Mustard baffles remain important techniques for the treatment of congenitally corrected transposition (cc-TGA), isolated ventricular inversion, and D-transposition of the great arteries with delayed presentation. We describe the treatment of an 8-month old infant with atrioventricular discordance, ventriculoarterial concordance, and dextrocardia with atrial situs inversus. A modified Senning procedure was performed through the "left-sided" atrium. Modifications of the Senning and Mustard baffles remain important tools in the treatment of rare conditions like isolated ventricular inversion.

  12. Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia.

    PubMed

    Neerman-Arbez, M; Honsberger, A; Antonarakis, S E; Morris, M A

    1999-01-01

    Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by the complete absence of detectable fibrinogen. Uncontrolled bleeding after birth from the umbilical cord is common, and spontaneous intracerebral bleeding and splenic rupture can occur throughout life. Patients respond well to fibrinogen replacement therapy, either prophylactically or on demand. Because the half-life of infused fibrinogen is essentially normal, the genetic defect is assumed to be at the level of synthesis, but no responsible locus has been identified. Preliminary studies using Southern blotting suggested that no gross structural changes of the fibrinogen genes were present in patients. We report the identification of causative mutations in a nonconsanguineous Swiss family with congenital afibrinogenemia. The four affected male individuals (two brothers and their two first cousins) have homozygous deletions of approximately 11 kb of the fibrinogen alpha-chain gene (FGA). Haplotype data suggest that these deletions occurred separately, on three distinct ancestral chromosomes, implying that the FGA region of the fibrinogen locus is susceptible to deletion by a common mechanism. Furthermore, our results demonstrate that humans, like mice, may be born without the capacity to synthesize functional fibrinogen.

  13. [3D-navigated high energy shockwave therapy and axis correction after failed distraction treatment of congenital tibial pseudarthrosis].

    PubMed

    Schatz, K D; Nehrer, S; Dorotka, R; Kotz, R

    2002-07-01

    The treatment of congenital tibial pseudarthrosis using a distraction procedure as described by Ilizarov is a standard surgical intervention. Nevertheless, there are problems in achieving bony stability in about 10% of cases even after repeated surgery as reported by Lammens et al. (2000). Traub et al. (1999) found a rate of 50% amputations in 33 cases treated since 1927. To prevent an Ilizarov procedure from resulting in a delayed union or nonunion, Paley et al. (1992) recommended autografting immediately after distraction. Based on the good results in the stimulation of osteogenesis in adults, we started to treat delayed bone union following distraction treatment with high-energy shock wave therapy also in children. In patients suffering from congenital tibial pseudarthrosis with a deviation of the bony axis, we combine this surgery-substituting therapy with fixation of a Taylor spatial frame in order to correct the axis. Using this new method of treatment, we were able to achieve stability in four children who previously had had nonunion even after multiple surgical interventions.

  14. 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

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

    PubMed

    Sodhi, Sandeep S; Cedars, Ari M

    2015-08-01

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

  16. 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

  17. New surgical technique for the correction of congenital muscular torticollis (wry neck).

    PubMed

    Stassen, L F; Kerawala, C J

    2000-04-01

    Congenital muscular torticollis (wry neck) results from shortening of the sternocleidomastoid muscle and may lead to limitation of neck movement and craniofacial deformity. If conservative treatment is started early, with a regimen of passive stretching exercises and active strengthening of the contralateral muscle, about 95% of patients achieve an acceptable range of neck movement. The surgical management of patients who do not respond to physiotherapy remains controversial. Its aim is to provide a long-term, cosmetic restoration of neck mobility while minimizing the development of craniofacial deformity and upper cervical scoliosis; few previously advocated techniques achieve both these goals. We describe a technique that combines subperiosteal lengthening of the sternocleidomastoid muscle at its mastoid insertion, and division of lower fibrotic bands with minimal postoperative fibrosis. As the sternomastoid muscle is reattached lower down on the mastoid process, the lengthening of the muscle is stable, because the tendency to fibrosis and shortening is minimized. Comparison of the results with previous series shows that this technique provides immediate benefit and good long-term results.

  18. Posterior Double Vertebral Column Resections Combined with Satellite Rod Technique to Correct Severe Congenital Angular Kyphosis.

    PubMed

    Sun, Xu; Zhu, Ze-Zhang; Chen, Xi; Liu, Zhen; Wang, Bin; Qiu, Yong

    2016-08-01

    This paper presents a highly challenging technique involving posterior double vertebral column resections (VCRs) and satellite rods placement. This was a young adult case with severe angular thoracolumbar kyphosis of 101 degrees, secondary to anterior segmentation failure from T11 to L1 . There were hemivertebrae at T11 and T12 , and a wedged vertebra at L1 . He received double VCRs at T12 and T11 and instrumented fusion from T6 to L4 via a posterior only approach. Autologous grafts and a cage were placed between the bony surfaces of the osteotomy gap. Once closure of osteotomy was achieved, bilateral permanent CoCr rods were placed with addition of satellite rods. Postoperative X-ray demonstrated marked correction of kyphosis. On the 10(th) days after surgery, the patient was able to walk without assistance. In conclusion, double VCRs are effective to correct severe angular kyphosis, and addition of satellite rods may be imperative to enhance instrumentation strength and thus prevent correction loss. PMID:27627727

  19. 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.

  20. 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

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

    PubMed Central

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

    2016-01-01

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

  2. 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

  3. 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.

  4. [Effects of octreotide acetate on intractable chylothorax after surgery for congenital heart diseases].

    PubMed

    Kaneko, M; Hiramatsu, T; Nishimura, Y; Iwahashi, M; Komori, S; Shibata, M; Yuzaki, M; Okamura, Y; Suzuki, H; Takeuchi, T; Shibuta, S

    2006-07-01

    We experienced 2 infants in whom octreotide acetate was effective on intractable chylothorax after surgery for congenital heart diseases. They were 8- and 5-month-old. They were diagnosed as having corrected transposition of the great arteries (TGA) and tetralogy of Fallot respectively, and underwent bidirectional Glenn anastomosis and right modified Blalock Taussig shunt. Chylothorax was revealed on the 11th and the 1st postoperative day, and was not improved by any conventional therapy in either case. Then octreotide acetate was infused continuously with 0.1-0.6 micorg/kg/hour for 24 and 7 days. Chylothorax disappeared completely without any complications such as disturbance of blood sugar level or growth retardation. Octreotide acetate was effective and safe even in infants in intractable chylothorax after surgery for congenital heart diseases, as long as used for short period.

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

    PubMed

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

    1975-02-01

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

  6. Cardiopulmonary bypass for surgical correction of congenital heart disease in children with sickle cell disease: a case series.

    PubMed

    Harban, F M J; Connor, P; Crook, R; Bingham, R

    2008-06-01

    We present a series of three children with sickle cell disease aged 3 months, 3 weeks and 18 months, all presenting for cardiac surgery requiring cardiopulmonary bypass. The cardiac lesions were atrioventricular septal defect, transposition of the great arteries and ventricular septal defect, with sickle cell loads of 35%, 11% and 39% respectively at presentation. We calculated that the bypass circuit would provide sufficient volume to decrease sickle cell levels to safe values, so we decided to proceed to bypass without pre-operative exchange transfusion, and modified the bypass technique so as to avoid the likely stimulants of a sickle cell crisis. Haemoglobin S levels after the start of bypass were significantly lower than before bypass, and remained low throughout the case and into the second postoperative day. By adopting this approach, we feel that we achieved a successful outcome with minimal distress to the children and their families.

  7. 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…

  8. Factors acting on Mos1 transposition efficiency

    PubMed Central

    Sinzelle, Ludivine; Jégot, Gwenhael; Brillet, Benjamin; Rouleux-Bonnin, Florence; Bigot, Yves; Augé-Gouillou, Corinne

    2008-01-01

    Background Mariner-like elements (MLEs) are widespread DNA transposons in animal genomes. Although in vitro transposition reactions require only the transposase, various factors depending on the host, the physico-chemical environment and the transposon sequence can interfere with the MLEs transposition in vivo. Results The transposition of Mos1, first isolated from drosophila mauritiana, depends of both the nucleic acid sequence of the DNA stuffer (in terms of GC content), and its length. We provide the first in vitro experimental demonstration that MITEs of MLE origin, as small as 80 to 120-bp, are able to transpose. Excessive temperature down-regulates Mos1 transposition, yielding excision products unable to re-integrate. Finally, the super-helicity of the DNA transposon donor has a dramatic impact on the transposition efficiency. Conclusion The study highlights how experimental conditions can bias interpretation of mariner excision frequency and quality. In vitro, the auto-integration pathway markedly limits transposition efficiency to new target sites, and this phenomenon may also limit events in the natural host. We propose a model for small transposons transposition that bypasses DNA bending constraints. PMID:19036139

  9. 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

  10. [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.

  11. 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 ...

  12. 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 ...

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

    PubMed

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

    2003-04-01

    In the congenital malformations of the front chest wall showing depression or protrusion, the cardiorespiratory disorders are inconstant and often not linked with the distortion. On the other hand psychoaffective repercussions are major in adolescents and young adults justifying recourse to surgery with morphological and aesthetic aiming. The authors present the technique of modelling sternochondroplasty by raising with osteosynthesis by slide fastener-handle of Martin-Borrelly, applied to the correction of congenital malformation of the front chest wall in young adult, both of protrusion (pectus carinatum), of thoraxes in funnel (pectus excavatum) types or of mixed types (pectus arcuatum). This surgical replanning intervention is carried out by under-mammary way and aims at reestablishing a normal anatomy of the front chest wall. It leads to a genuine wide sternochondrocostal volet, which is stabilised by a specific, multipurpose, adaptable and reliable osteosynthesis equipment. The results obtained on a series of 14 cases are good or excellent in 86% of the cases and stable over time in the absence of major complications. A good cooperation of the patient is essential to obtain a good result in particular via the continuation of musculation exercises after assembly consolidation, possibly associated with remote mammary plastic surgery in the event of hypoplasia or of associated mammary agenesia. PMID:12801547

  14. 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

  15. 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 ...

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

    PubMed

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

    2013-04-01

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

  17. Orthotopic heart transplantation in patients with transposition of the great arteries.

    PubMed

    Muñoz-Guijosa, Christian; Ginel, Antonino; Montiel, José; Brosa, Vicens; Mirabet, Sonia; Bayés-Genis, Antonio; Padró, José M

    2009-02-01

    Thanks to progress in cardiac surgery and cardiology, pediatric patients with complex congenital heart conditions who would previously have died are now reaching adulthood. Patients with transposition of the great arteries who have undergone atrial repair can present during follow-up with progression towards heart failure as a result of progressive systemic right ventricular failure. In this situation, heart transplantation is a possible therapeutic option. Anatomic abnormalities and the presence of intraatrial conduits ensure that transplantation must involve a number of technical modifications. Here, we present our experience during 1992-2004 with heart transplantations in four patients with transposition of the great arteries and atrial repair. There was no operative mortality. During follow-up (mean period, 75 months), there was one death due to chronic rejection. The other patients remain in New York Heart Association class I, with normally functioning grafts.

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

    PubMed

    Hontanilla, Bernardo; Vila, Antonio

    2012-02-01

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

  19. 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

  20. 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.

  1. [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

  2. Corrections

    NASA Astrophysics Data System (ADS)

    2012-09-01

    The feature article "Material advantage?" on the effects of technology and rule changes on sporting performance (July pp28-30) stated that sprinters are less affected by lower oxygen levels at high altitudes because they run "aerobically". They run anaerobically. The feature about the search for the Higgs boson (August pp22-26) incorrectly gave the boson's mass as roughly 125 MeV it is 125 GeV, as correctly stated elsewhere in the issue. The article also gave a wrong value for the intended collision energy of the Superconducting Super Collider, which was designed to collide protons with a total energy of 40 TeV.

  3. 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

  4. Congenital atrichia associated with situs inversus and mesocardia.

    PubMed

    Sacchidanand, S; Sahana, Ms; Hiremagalore, Ravi; Asha, Gs

    2012-07-01

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

  5. 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.

  6. Aortic valve-sparing in aortic dissection with transposition of great arteries.

    PubMed

    Sharma, Rajiv; Cohen, Brent; Peters, Paul; Shah, Pallav

    2013-04-01

    Patients with transposition of the great arteries have good survival after surgery, but some have complications ranging from heart failure to valve dysfunction. A 42-year-old woman who underwent surgical correction in childhood, presented with aortic dissection and had a valve-sparing root operation, but died immediately postoperatively. Both aortic dissection and valve-sparing root operations in this setting have not been described before. This case highlights facts to consider in the treatment of this presentation. PMID:24532622

  7. Retroviral DNA Transposition: Themes and Variations.

    PubMed

    Skala, Anna Marie

    2014-10-01

    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.

  8. 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

  9. Congenital heart defect - corrective surgery

    MedlinePlus

    ... is left there to help keep the artery open. The procedure is done in a laboratory with ... arrhythmias. Sometimes, an ASD can be closed without open-heart surgery. First, the surgeon makes a tiny ...

  10. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-09-01

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

  11. 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

  12. 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.

  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. 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

  15. 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

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

    PubMed

    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.

  17. 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

  18. 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

  19. Endoscopically Assisted Anterior Subcutaneous Transposition of Ulnar Nerve.

    PubMed

    Lui, Tun Hing

    2016-06-01

    Ulnar nerve compression at the elbow is the most common neuropathy of the upper extremity. Surgical options include in situ decompression, decompression with anterior transposition of the ulnar nerve, and medial epicondylectomy with or without decompression. With the advancement of endoscopic surgery, techniques of endoscopic in situ decompression of the ulnar nerve and endoscopic anterior transposition of ulnar nerve have been reported. This article describes a technique of endoscopically assisted anterior subcutaneous transposition of ulnar nerve that is composed of an open release and mobilization of the ulnar nerve at and distal to the cubital tunnel and endoscopic release and mobilization of the ulnar nerve proximal to the cubital tunnel. PMID:27656391

  20. 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 ...

  1. Congenital syphilis

    MedlinePlus

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

  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 myopathies.

    PubMed

    Romero, Norma Beatriz; Clarke, Nigel F

    2013-01-01

    Congenital myopathies are a heterogeneous group of inherited muscle disorders, characterized by the predominance of particular histopathological features on muscle biopsy, such as cores (central core disease) or rods (nemaline myopathy). Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor development are common in most forms. As a result, the diagnosis of a subtype of congenital myopathy is largely based on the presence of specific structural abnormalities in the skeletal muscle detected by enzyme-histochemistry and electron microscopy studies. During the last decades there have been significant advances in the identification of the genetic basis of most congenital myopathies. However, there is significant genetic heterogeneity within the main groups of congenital myopathies, and mutations in one particular gene may also cause diverse clinical and morphological phenotypes. Thus, the nosography and nosology in this field is still evolving. PMID:23622357

  4. [Congenital analgesia].

    PubMed

    Accornero, N; Bini, G; Cruccu, G

    1980-01-01

    The case of a 12 years old boy with a congenital anaesthesia covering all cutaneous and visceral districts is reported. There were no other neurological abnormalities apart a light mental retardation and loss of axon reflex after intradermal injection of hystamine. Notwithstanding this last finding a diagnosis of congenital indifference to pain was made. The differential diagnosis between indifference and insensitivity to pain is discussed. PMID:6162189

  5. 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

  6. 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

  7. The Evolution of Self-Regulated Transposition of Transposable Elements

    PubMed Central

    Charlesworth, B.; Langley, C. H.

    1986-01-01

    This paper examines the conditions under which self-regulated rates of transposition can evolve in populations of transposable elements infecting sexually reproducing hosts. Models of the evolution of both cis-acting regulation (transposition immunity) and trans-acting regulation (transposition repression) are analyzed. The potential selective advantage to regulation is assumed to be derived from the deleterious effects of mutations associated with the insertion of newly replicated elements. It is shown that both types of regulation can easily evolve in hosts with low rates of genetic recombination per generation, such as bacteria or bacterial plasmids. Conditions are much more restrictive in organisms with relatively free recombination. In haploids, the main selective force promoting regulation is the induction of lethal or sterile mutations by transposition; in diploids, a sufficiently high frequency of dominant lethal or sterile mutations associated with transpositions is required. Data from Drosophila and maize suggest that this requirement can sometimes be met. Coupling of regulatory effects across different families of elements would also aid the evolution of regulation. The selective advantages of restricting transposition to the germ line and of excising elements from somatic cells are discussed. PMID:3000868

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

    PubMed

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

    2008-09-01

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

  9. Hemi-metatarsal transposition: the use of autogenous bone grafting to treat brachymetatarsia--a unique approach.

    PubMed

    Beaupied, J P; Carrozza, L P; Brynes, M F; Morreale, P F

    1991-01-01

    Many surgical procedures have been developed for relieving symptoms and improving cosmesis for brachymetatarsia. The etiology, clinical consequences, various surgical alternatives, and a unique case report are discussed. Surgical correction, demonstrating the use of autogenous bone grafts in hemimetatarsal transpositions, was performed. The authors believe that this procedure is unique and efficient. It reestablishes the metatarsal parabola, restores function, relieves symptoms, and provides an excellent cosmetic result. PMID:1770206

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

    PubMed

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

    2015-01-01

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

  11. No-Go Zones for Mariner Transposition

    PubMed Central

    2016-01-01

    ABSTRACT The property of transposons to randomly insert into target DNA has long been exploited for generalized mutagenesis and forward genetic screens. Newer applications that monitor the relative abundance of each transposon insertion in large libraries of mutants can be used to evaluate the roles in cellular fitness of all genes of an organism, provided that transposition is in fact random across all genes. In a recent article, Kimura and colleagues identified an important exception to the latter assumption [S. Kimura, T. P. Hubbard, B. M. Davis, M. K. Waldor, mBio 7(4):e01351-16, 2016, doi:10.1128/mBio.01351-16]. They provide evidence that the Mariner transposon exhibits locus-specific site preferences in the presence of the histone-like nucleoid structuring protein H-NS. This effect was shown to bias results for important virulence loci in Vibrio cholerae and to result in misidentification of genes involved in growth in vitro. Fortunately, the bulk of this bacterium’s genome was unaffected by this bias, and recognizing the H-NS effect allows filtering to improve the accuracy of the results. PMID:27729512

  12. Driving DNA transposition by lentiviral protein transduction

    PubMed Central

    Cai, Yujia; Mikkelsen, Jacob Giehm

    2014-01-01

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

  13. [Congenital torticollis].

    PubMed

    Wicart, P

    2012-03-01

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

  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 idiopathic clubfoot deformities.

    PubMed

    Kyzer, S P; Stark, S L

    1995-03-01

    Clubfoot is a birth defect that is marked primarily by a deformed talus (ie, ankle) and calcaneous (ie, heel) that give the foot a characteristic "club-like" appearance. In congenital idiopathic clubfoot (ie, talipes equinovarus), the infant's foot points downward (ie, equinus) and turns inward (ie, varus), while the forefoot curls toward the heel (ie, adduction). This congenital disorder has an incidence of 1 in 400 live births, with boys affected twice as often as girls. Unilateral clubfoot is somewhat more common than bilateral clubfoot and may occur as an isolated defect or in association with other disorders (eg, chromosomal aberrations, cerebral palsy, spina bifida, arthrogryposis). Infantile clubfoot deformity is painless and is correctable with early diagnosis and prompt treatment. PMID:7778903

  16. 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

  17. Congenital hemifacial hyperplasia

    PubMed Central

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

    2011-01-01

    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

  18. 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…

  19. 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

  20. Factors influencing survival after balloon atrial septostomy for complete transposition of great arteries.

    PubMed Central

    Leanage, R; Agnetti, A; Graham, G; Taylor, J; Macartney, F J

    1981-01-01

    Despite balloon atrial septostomy within the first days of life, some patients with complete transposition of the great arteries die before reaching elective definitive surgery in the second six months of life. To discover why, we analysed the fate of 144 patients who had balloon atrial septostomy after 1966, using a modified logrank survival test with multivariate capability. Patients were withdrawn "alive" on reaching definitive surgery. The following largely independent factors were associated with a statistically significant excess mortality: pulmonary hypertension, the presence and size of a ventricular septal defect of persistent ductus arteriosus, relative anaemia, absence of left ventricular outflow tract obstruction, low arterial oxygen saturation, aortic stenosis and coarctation, and balloon atrial septostomy between 1 week and 1 month of life. Those of the above factors which can be determined at balloon atrial septostomy or at routine cardiac catheterisation at 3 months of age were then introduced into discriminant function analysis on survival to 6 months. Hence the probability of any individual patient dying in the first six months was calculated, allowing for these factors. This prediction was correct in 76 per cent of the patients studied. By offering earlier definitive correction to patients thus identified as being at high risk of premature death, it should prove possible to reduce overall mortality in transposition of the great arteries. PMID:7236462

  1. Epidemiology of congenital heart disease in Brazil

    PubMed Central

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

    2015-01-01

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

  2. [Congenital heart diseases in women].

    PubMed

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

    2013-02-01

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

  3. 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

  4. Laparoscopic lateral ovarian transposition: a fertility sparing procedure.

    PubMed

    Ferrari, S; Persico, P; Di Puppo, F; Giardina, P; Ferrari, A

    2009-10-01

    This article reports the case of a 30-year-old woman who, in 2003, had diffuse large B-cell lymphoma of the left vaginal fornix, associated with sclerosis. After six chemoimmunotherapy cycles the patient underwent a laparoscopic procedure for lateral ovarian transposition to spare ovarian function before radiotherapy. Six months after the transposition the evaluation of ovarian function was performed. The hypothalamic-pituitary-ovary axis was normal. Three years after radiation therapy (2006) the patient spontaneously conceived. Her pregnancy proceeded regularly. She had an uneventful vaginal delivery. Lateral ovarian transposition with tubal anatomy preservation, which is an underused technique, can be successfully used to spare ovarian function in women who undergo pelvic radiotherapy and to let them achieve spontaneous pregnancy.

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

    SciTech Connect

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

    1990-11-01

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

  6. [Congenital linear nevus sebaceus].

    PubMed

    Linnemann, Anders; Bygum, Anette; Fenger-Grøn, Jesper

    2011-09-01

    An unusual case of nevus sebaceous is described. Nevus sebaceous is a congenital epidermal hamartoma of the skin and the predilection site is the head or neck. In this case the nevus followed the lines of Blaschko along the back of the left lower extremity. The linear lesion seemed papulovesicular which caused suspicion of incontinentia pigmenti or infection, and the boy received antimicrobial treatment until a biopsy revealed the correct diagnosis. We wish to emphasize this clinical picture to spare the patient and relatives from unnecessary tests, treatment and concern. PMID:21893006

  7. Congenital Hydrocephalus.

    PubMed

    Estey, Chelsie M

    2016-03-01

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

  8. [Congenital aniridia].

    PubMed

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

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

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

    PubMed Central

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

    2016-01-01

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

  10. 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. PMID:27621790

  11. 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.

  12. 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

  13. 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

  14. 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.

  15. 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

  16. 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- ...

  17. 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

  18. Successful term pregnancy after Mustard operation for transposition of the great arteries.

    PubMed

    Rousseil, M P; Irion, O; Béguin, F; Jaques, O; Adamec, R; Lerch, R; Friedli, B; Rifat, K

    1995-03-01

    Transposition of the great arteries is a complex cardiac malformation with poor prognosis without surgical correction. Since the introduction of surgical procedures such as the intra-auricular reorientation of the venous return (Mustard procedure), an increasing number of patients may reach adulthood and experience pregnancy. Because long-term complications after the Mustard operation include systemic heart failure, arrhythmias, venous return stenosis and pulmonary edema, hemodynamic changes during pregnancy and delivery may potentially engender life-threatening complications in these patients. We report the case of a 24-year-old primigravida who underwent a Mustard procedure at the age of 2 years for transposition of the great vessels, and who carried out a full-term pregnancy. The pregnancy was uneventful until the 34th week, when the woman developed signs of moderate right ventricular failure and frequent episodes of accelerated junctional rhythm. Digitalisation improved symptoms and elicited return to normal sinus rhythm. The patient delivered at term by elective cesarean section, under close hemodynamic monitoring. PMID:7781853

  19. 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…

  20. The Meleagrid herpesvirus 1 genome is partially resistant to transposition.

    PubMed

    Hall, Robyn N; Meers, Joanne; Mitter, Neena; Fowler, Elizabeth V; Mahony, Timothy J

    2013-06-01

    The propagation of herpesvirus genomes as infectious bacterial artificial chromosomes (iBAC) has enabled the application of highly efficient strategies to investigate gene function across the genome. One of these strategies, transposition, has been used successfully on a number of herpesvirus iBACs to generate libraries of gene disruption mutants. Gene deletion studies aimed at determining the dispensable gene repertoire of the Meleagrid herpesvirus 1 (MeHV-1) genome to enhance the utility of this virus as a vaccine vector have been conducted in this report. A MeHV-1 iBAC was used in combination with the Tn5 and MuA transposition systems in an attempt to generate MeHV-1 gene interruption libraries. However, these studies demonstrated that Tn5 transposition events into the MeHV-1 genome occurred at unexpectedly low frequencies. Furthermore, characterization of genomic locations of the rare Tn5 transposon insertion events indicated a nonrandom distribution within the viral genome, with seven of the 24 insertions occurring within the gene encoding infected cell protein 4. Although insertion events with the MuA system occurred at higher frequency compared with the Tn5 system, fewer insertion events were generated than has previously been reported with this system. The characterization and distribution of these MeHV-1 iBAC transposed mutants is discussed at both the nucleotide and genomic level, and the properties of the MeHV-1 genome that could influence transposition frequency are discussed. PMID:23901750

  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. Congenital hypoaldosteronism.

    PubMed

    Sethupathi, Vanathi; Vijayakumar, M; Janakiraman, Lalitha; Nammalwar, B R

    2008-08-01

    Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.

  3. 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

  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.

  5. 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

  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. Transposition in pigeons: reassessing Spence (1937) with multiple discrimination training.

    PubMed

    Lazareva, Olga F; Wasserman, Edward A; Young, Michael E

    2005-02-01

    We studied transposition in pigeons, using multiple-pair discrimination training. Four birds discriminated two pairs of circles: 1+ 2- and 5+ 6- or 1 - 2 + and 5- 6 + (digits denote circle diameters and plus and minus signs denote reward and nonreward, respectively). Four other birds discriminated four pairs of circles: 1+ 2-, 1+ 3-, 4+ 6-, and 5+ 6- or 1- 2 +, 1- 3 +, 4- 6+, and 5- 6+. Finally, 4 birds discriminated only one pair of circles: 1+ 2-, 1- 2+, 5+ 6-, or 5- 6+. Testing included five new pairs--1/5, 2/3,2/6,3/4, and 4/5--that distinguished absolute from relational accounts of transposition. The pigeons' relational responding rose from one- to two- to four-pair training. The similarity of the testing stimuli to one another also affected relational responding: Transposition increased with highly dissimilar stimuli. Neither Spence's (1937) theory nor existing relational accounts could predict the obtained pattern of relational responding.

  8. Single strand transposition at the host replication fork

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2013-01-01

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

  10. 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

  11. 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

  12. 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

  13. 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

  14. Transposition of the carbenicillin-hydrolyzing beta-lactamase gene.

    PubMed Central

    Katsu, K; Inoue, M; Mitsuhashi, S

    1982-01-01

    We isolated a new transposon Tn2101, from plasmid Rms433 in Enterobacter cloacae. Tn2101 encoded the formation of type IV (carbenicillin-hydrolyzing) beta-lactamase and multiple resistance to streptomycin, sulfanilamide, spectinomycin, and mercury in addition to ampicillin. Tn2101 was transposable between conjugative (or nonconjugative) plasmids and the host chromosome. Transposition occurred independently of the general recombination ability of the host cell. Tn2101 had a molecular size of 9.5 x 10(6) and contained short inverted repeat terminal sequences. Images PMID:6279559

  15. Bilateral nonfistulous congenital coronary arterial aneurysms.

    PubMed

    Wilson, C S; Weaver, W F; Zeman, E D; Forker, A D

    1975-02-01

    A 15 year old boy collapsed and died after participating in a basketball game. Autopsy revealed bilateral congenital coronary arterial aneurysms. The diagnosis was made post mortem but, retrospectively, might have been suspected during life, even before angiography. The clues to the correct diagnosis were chest pain, a systolic and diastolic murmur and a mass on the right heart border in the chest roentgenogram.

  16. 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.

  17. Storm Transposition- a Tool for Climate Change Adaptation

    NASA Astrophysics Data System (ADS)

    Potter, K. W.; Hayden, N.; Liebl, D.

    2014-12-01

    For much of the world, climate models predict significant increases in the magnitude and frequency of extreme rainfalls. As a result communities are being encouraged to identify and reduce their vulnerability to extreme rainfalls. However, climate model projections of precipitation vary greatly across models. While there exist strategies for accommodating uncertainties in climate model projections, for various reasons seems unlikely that state and local governments will use any of them. For communities that have not experienced extreme storms in recent memory, useful information on their vulnerability can be obtained by hydrologic modeling based on high-resolution rainfall data from one or more extreme storms that have occurred elsewhere in the region. This approach, called storm transposition, was developed in the early 20th century when hydrologic times series were relatively short, and is still used today to estimate Probable Maximum Flood discharges for designing emergency spillways for hazardous dams. We present examples of the use of storm transposition for evaluating extreme rainfall vulnerabilities in Dane County, Wisconsin. Our findings suggest that state and local decision-makers are very receptive to using this approach to anticipate and adapt to impacts from extreme rainfall events.

  18. Interdigital neuroma: intermuscular neuroma transposition compared with resection.

    PubMed

    Colgrove, R C; Huang, E Y; Barth, A H; Greene, M A

    2000-03-01

    This prospective, randomized study compares the treatment of an interdigital neuroma (IDN) by the standard resection operation with a technique in which the IDN is transposed into the inter-muscular space between the adductor hallucis and the interossei muscles after division of the digital nerves distal to the IDN. The resection group contained 22 patients and 22 neuromas and the transposition group contained 22 patients and 23 neuromas. An interviewer, blinded as to the operative technique used, telephoned each patient preoperatively, and at 1 month, 3 months, 6 months, 12 months, and 36-48 months postoperatively. The interviewer recorded the patient's reported pain level on a numerical rating scale of 0 to 100. In the resection group the average pain level was slightly lower through the first 6 month period, but at the 12 month review the resection group had a slightly higher average pain level . At the 36-48 month survey the resection group again reported a greater average pain level and fewer asymptomatic patients. It was concluded that it is unnecessary to excise the IDN to obtain excellent relief of pain. It was also concluded that transposition of the IDN into an intermuscular position between the adductor hallucis and the interossei muscles produced significantly better long term results than did the standard resection operation.

  19. 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

  20. 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

  1. Congenital myopathies: an update.

    PubMed

    Nance, Jessica R; Dowling, James J; Gibbs, Elizabeth M; Bönnemann, Carsten G

    2012-04-01

    Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy. Recent evidence of overlapping clinical and histological features between the classical forms and their different genetic entities suggests that there may be shared pathomechanisms between the congenital myopathies. Animal models, especially mouse and zebrafish, have been especially helpful in elucidating such pathomechanisms associated with the congenital myopathies and provide models in which future therapies can be investigated. PMID:22392505

  2. Congenital dislocation of the patella - clinical case.

    PubMed

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

    2016-01-01

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

  3. 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 ...

  4. Transposition driven genomic heterogeneity in the Drosophila brain*

    PubMed Central

    Perrat, Paola N.; DasGupta, Shamik; Wang, Jie; Theurkauf, William; Weng, Zhiping; Rosbash, Michael; Waddell, Scott

    2014-01-01

    Recent studies in mammals have documented neural expression and mobility of retrotransposons and suggested that neural genomes are diverse mosaics. Here we report transposition in memory-relevant neurons in the Drosophila brain. Cell-type specific gene expression profiling revealed transposon expression is more abundant in mushroom body (MB) αβ neurons than in neighboring MB neurons. The PIWI-RNA (piRNA) proteins Aubergine and Argonaute 3, known to suppress transposons in the fly germline, are expressed in the brain and appear less abundant in αβ MB neurons. Loss of piRNA proteins correlates with elevated transposon expression in brain. Lastly, paired-end deep sequencing identified over 200 de novo transposon insertions in αβ neurons, including events into memory-relevant loci. Our observations indicate that genomic heterogeneity is a conserved feature of the brain. PMID:23559253

  5. 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.

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

    PubMed

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

    1997-05-01

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

  7. 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

  8. 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 ...

  9. 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 ...

  10. 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.

  11. Giant congenital melanocytic nevus.

    PubMed

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

    2013-01-01

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

  12. Genetics of congenital hypothyroidism

    PubMed Central

    Park, S; Chatterjee, V

    2005-01-01

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

  13. 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

  14. 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.

  15. Transposition of a rice Mutator-like element in the yeast Saccharomyces cerevisiae.

    PubMed

    Zhao, Dongyan; Ferguson, Ann; Jiang, Ning

    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.

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

    PubMed Central

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

    2015-01-01

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

  17. 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

  18. Anconeus muscle transposition for chronic lateral epicondylitis, recurrences, and complications.

    PubMed

    Luchetti, Riccardo; Atzei, Andrea; Brunelli, Francesco; Fairplay, Tracy

    2005-06-01

    The use of the anconeus muscle in the treatment of chronic lateral epicondylitis (CLE), recurrences, and infection is presented. In chronic lateral epicondylitis, a wide degenerative area of epicondyle tendon is not frequently found, but when it occurs, its treatment is quite difficult. Recurrences of CLE and superficial or articular infections of the radiohumeral joint after surgical treatment or cortisone infiltrations are 2 more major conditions in which the use of anconeus muscle transposition demonstrated to be a promising technique. The procedure is widely described based on personal experience of 13 cases, 8 of which were CLE (group 1), and 5 recurrences and infection (group 2). Rotation of this muscle close to the epicondyle makes it possible to cover the epicondyle bone and the exposed radiohumeral joint in all cases. Additional surgical time usually requires only an extra 15 minutes. At the mean follow-up of 74 and 55 months, all the patients of the first group were painless, and the patients of the second group showed a decrease in pain from 9 to 3. Patients of the 2 groups returned to their previous work with a complete recovery of elbow range of motion and grip strength.

  19. 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.

  20. Congenital lobar emphysema

    PubMed Central

    Tural-Kara, Tuğçe; Özdemir, Halil; Çiftçi, Ergin; İnce, Erdal

    2016-01-01

    Congenital lobar emphysema is a rare disease, which is characterized by pulmoner hyperinflation. Depending on the degree of bronchial obstruction, the clinical presentation may be variable. We report a rare case with congenital lobar emphysema in a 38-days-old male infant who presented with severe respiratory distress and hypertension. Air trapping in the left upper lung and significant mediastinal shift to the right were observed on the chest x-ray. Emphysematous changes were detected on the thorax computed tomography and considered as congenital lobar emphysema. The upper left lobectomy was successfully performed by pediatric surgeons. On postoperative follow up, no sign of respiratory distress occurred and the patient was normotensive. In this report, a case with congenital lobar emphysema, which is a rare cause of respiratory distress and hypertension is discussed. PMID:27381542

  1. Giant congenital nevus

    MedlinePlus

    ... pigmented nevus; Giant hairy nevus; Giant pigmented nevus; Bathing trunk nevus; Congenital melanocytic nevus - large ... baby grows in the womb. In some families bathing trunk nevi may be inherited. The condition may ...

  2. 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 ...

  3. 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 ...

  4. Congenital platelet function defects

    MedlinePlus

    Platelet storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... disorder may also cause severe bleeding. Platelet storage pool disorder (also called platelet secretion disorder) occurs when ...

  5. 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: ...

  6. IHF is the limiting host factor in transposition of Pseudomonas putida transposon Tn4652 in stationary phase.

    PubMed

    Ilves, Heili; Hõrak, Rita; Teras, Riho; Kivisaar, Maia

    2004-03-01

    Transpositional activity of mobile elements is not constant. Conditional regulation of host factors involved in transposition may severely change the activity of mobile elements. We have demonstrated previously that transposition of Tn4652 in Pseudomonas putida is a stationary phase-specific event, which requires functional sigma S (Ilves et al., 2001, J Bacteriol 183: 5445-5448). We hypothesized that integration host factor (IHF), the concentration of which is increased in starving P. putida, might contribute to the transposition of Tn4652 as well. Here, we demonstrate that transposition of Tn4652 in stationary phase P. putida is essentially limited by the amount of IHF. No transposition of Tn4652 occurs in a P. putida ihfA-defective strain. Moreover, overexpression of IHF results in significant enhancement of transposition compared with the wild-type strain. This indicates that the amount of IHF is a bottleneck in Tn4652 transposition. Gel mobility shift and DNase I footprinting studies revealed that IHF is necessary for the binding of transposase to both transposon ends. In vitro, transposase can bind to inverted repeats of transposon only after the binding of IHF. The results obtained in this study indicate that, besides sigma S, IHF is another host factor that is implicated in the elevation of transposition in stationary phase. PMID:15009901

  7. 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

  8. 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.

  9. Congenital Vascular Anomalies.

    PubMed

    Gravereaux, Edwin C.; Nguyen, Louis L.; Cunningham, Leslie D.

    2004-04-01

    Congenital vascular anomalies are rare. The cardiovascular specialist should nevertheless be aware of the more common types of vascular anomalies and understand the implications for patient treatment and the likelihood of associated morbidity. The presentation of congenital arteriovenous malformations can range from asymptomatic or cosmetic lesions, to those causing ischemia, ulceration, hemorrhage, or high-output congestive heart failure. Treatment of large, symptomatic arteriovenous malformations often requires catheter-directed embolization prior to the attempt at complete surgical excision. Later recurrence, due to collateral recruitment, is frequent. Graded compression stockings and leg elevation are the mainstays of treatment for the predominantly venous congenital vascular anomalies. Most congenital central venous disorders are clinically silent. An exception is the retrocaval ureter. Retroaortic left renal vein, circumaortic venous ring, and absent, left-sided or duplicated inferior vena cava are relevant when aortic or inferior vena cava procedures are planned. The treatment of the venous disorders is directed at prevention or management of symptoms. Persistent sciatic artery, popliteal entrapment syndrome, and aberrant right subclavian artery origin are congenital anomalies that are typically symptomatic at presentation. Because they mimic more common diseases, diagnosis is frequently delayed. Delay can result in significant morbidity for the patient. Failure to make the diagnosis of persistent sciatic artery and popliteal entrapment can result in critical limb ischemia and subsequent amputation. Unrecognized aberrant right subclavian artery origin associated with aneurysmal degeneration can rupture and result in death. The treatment options for large-vessel arterial anomalies are surgical, sometimes in combination with endovascular techniques.

  10. 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: ...

  11. Renal transposition during minimally invasive partial nephrectomy: a safe technique for excision of upper pole tumors.

    PubMed

    Kaplan, Joshua R; Chang, Peter; Percy, Andrew G; Wagner, Andrew A

    2013-09-01

    Minimally invasive partial nephrectomy (MIPN) for upper pole masses, particularly for those located posteriorly, is challenging because of difficult visualization during tumor resection and renorrhaphy. Complete renal transposition facilitates access to and excision of upper pole renal masses during MIPN. Sixteen patients with upper pole renal masses underwent laparoscopic or robot-assisted partial nephrectomy with renal transposition from October 2009 to March 2012 with a mean follow-up of 22 months. Mean operative time was 242.6 minutes, and mean warm ischemic time was 14.7 minutes. No patient needed an intraoperative or postoperative blood transfusion. Five (31%) patients had a postoperative complication (four Clavien grade I, one Clavien grade II). There were no delayed complications, positive surgical margins, or tumor recurrences. Mean postoperative eGFR change within 3 months was -9.4%. These results show that complete renal transposition can be safely used to facilitate excision of upper pole tumors. PMID:23750561

  12. [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

  13. 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

  14. Transposition of Mandibular Lateral Incisor–Canine (Mn.I2.C) Associated with Hypodontia: A Review and Rare Clinical Case

    PubMed Central

    Athimuthu, Anantharaj; Prasanna, Praveen; Jagadeesh, Ramya B

    2014-01-01

    Transposition is a unique and extreme form of ectopic eruption in which a permanent tooth develops and erupts in the position which is normally occupied by other permanent teeth. Tooth transpositions are rare and they can be complete or incomplete. The aetiology of transposition is still obscure. Various populations have been studied, to determine the prevalence of tooth transpositions. 20% of the transpositions which occur on the maxillary arch involve the canine and the lateral incisor. Although they are rare, transpositions may involve the maxillary lateral and central incisors. Among all transpositions, Mandibular Lateral Incisor-Canine (Mn.I2.C) is the rarest, with a prevalence rate of 0.03%. Although various reports have been published on tooth transpositions, very few have noted the agenesis of teeth, particularly Mn.I2.C and its management. We are reporting a rare clinical case with associated hypodontia. PMID:24959525

  15. 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.

  16. Congenital muscular torticollis

    PubMed Central

    Nilesh, Kumar; Mukherji, Srijon

    2013-01-01

    Congenital muscular torticollis (CMT) is a rare congenital musculoskeletal disorder characterized by unilateral shortening of the sternocleidomastoid muscle (SCM). It presents in newborn infants or young children with reported incidence ranging from 0.3% to 2%. Owing to effective shortening of SCM on the involved side there is ipsilateral head tilt and contralateral rotation of the face and chin. This article reports a case of CMT in a 3½-year-old male child successfully managed by surgical release of the involved SCM followed by physiotherapy. PMID:24205484

  17. Congenital 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

  18. 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

  19. Variable transposition of eight maize activator (ac) elements located on the short arm of chromosome 1.

    PubMed

    Sheridan, William F

    2011-09-01

    Eight Activator (Ac) transposable elements mapped to the maize chromosome arm 1S were assessed for Ac transposition rates. For each of the Ac stocks, plants homozygous for the single Ac element and the Ds reporter r1-sc:m3 on chromosome 10 were crossed as females by a homozygous r1-sc:m3 tester color-converted W22 line. The resulting ears produced mostly coarsely spotted kernels and a low frequency of either near-colorless fine-spotted kernels or nonspotted kernels. The relative frequency of these two types of near-colorless kernels differed among the eight Ac stocks. The extent to which increased Ac dosage results in nonspotted kernels may be Ac-specific. Although all of the Ac elements are in near-isogenic inbred W22 lines, they varied to a large extent in their transposition frequency. These differences might possibly result from structural differences among the Ac elements. Because one pair of Ac elements derived from Ac33 on chromosome arm 5S differed about 13-fold in transposition frequency and a second pair of Ac elements derived from Ac12 on chromosome arm 1S differed about 3-fold in transposition frequency, this is not a likely explanation for all eight Ac elements. The data presented here support the notion that the differences in transposition frequency of the eight Ac elements may be a reflection of variability in Ac transcription or accessibility of the transposase to the Ac element, resulting from differences in the chromatin environments wherein the Ac elements are located. This is the first report of variability in transposition rates among different Ac donor lines.

  20. 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.

  1. 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

  2. Persistent institutional difficulties in surgery for transposition of the great arteries in guatemala: analysis with the aristotle basic and comprehensive scores.

    PubMed

    Leon-Wyss, Juan; Lo Rito, Mauro; Barnoya, Joaquin; Castañeda, Aldo R

    2011-07-01

    Background. Neonates with complex congenital cardiac lesions are largely inadequately managed in Guatemala. Methods. Between 1997 and 2009, 79 patients who underwent operations for transposition of the great arteries were identified; 51 (63.3%) had an arterial switch operation (ASO) and 28 (36%) an atrial switch operation (ATSO). The Aristotle Basic Complexity score (ABC score) and the Aristotle Comprehensive Complexity score (ACC score) have been used to aid in the evaluation of quality of care associated with pediatric cardiac surgery by adjusting for operative complexity. Results. In-hospital mortality was 47% for the ASO and 25% for the ATSO group; 36.7% were beyond 1 month of age and many exhibited increased preoperative risk factors. The mean ABC score was 9.75 ± 0.89 and the ACC score was 12.12 ± 2.7, with a mean 2.36-point increase (P < .05). Comparing survivors and nonsurvivors with both scores, significant differences were identified (ABC: P < .04 and ACC: P < .02). Conclusion. During this 13-year period, a low volume of surgery for transposition of the great arteries (TGA) was performed at our institution with a relatively high surgical mortality. Many patients with TGA in Guatemala are either never referred for surgery or referred late. Strategies to improve outcomes for neonates with TGA in Guatemala must include increases in early diagnosis countrywide and prompt referral to our unit. Based on the larger number of neonates with TGA that would be referred to our center, we anticipate that this strategy should substantially improve surgical outcomes and favor overall team-related skills.

  3. Nonextraction treatment of upper canine-premolar transposition in an adult patient.

    PubMed

    Kuroda, Shingo; Kuroda, Yasuko

    2005-05-01

    This article reports the successful treatment of a unilateral maxillary canine and first premolar transposition without the extraction of the premolar in an adult patient. A female patient, 21 years and three months of age, had moderate crowding in the upper arch with complete transposition of the canine and first premolar. After distal movement of the upper molars with a lingual arch and headgear appliance, the upper left first premolar and canine were transposed. Thirty-eight months after the placement of preadjusted appliances, the transposed canine and premolar were reordered in the proper positions. The total active treatment period was 49 months. After two years of retention, the occlusion is generally stable.

  4. 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.

  5. 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

  6. Hemodynamic consequences of a restrictive ductus arteriosus and foramen ovale in fetal transposition of the great arteries.

    PubMed

    Talemal, L; Donofrio, M T

    2016-09-16

    D-transposition of the great arteries (D-TGA) is the most commonly diagnosed cyanotic congenital heart disease presenting in the neonatal period. The survival after an arterial switch operation, with freedom from adverse cardiovascular events, has been reported to be as high as 93% at 25 years. However, despite excellent surgical outcomes, there continues to be significant preoperative morbidity and potential mortality due to compromise in the delivery room from foramen ovale closure requiring urgent balloon atrial septostomy for stabilization in the first minutes of life. The prenatal diagnosis of D-TGA using fetal echocardiography has aided in the perinatal management and delivery planning of these infants, lowering preoperative morbidity and mortality and preventing delivery room compromise. Fetuses with D-TGA have more highly oxygenated blood supplying the pulmonary arteries and ductus arteriosus which likely results in ductal constriction and increased pulmonary blood flow. This may be the cause of foramen ovale restriction or closure in-utero, which then increases the risk for postnatal compromise at delivery. Theories regarding the cause of the abnormal pulmonary vasculature that may be seen in D-TGA, including aorto-pulmonary collateral formation, have been proposed but to our knowledge, observation of the ultrasound findings throughout mid and late gestation describing the progression of the abnormal fetal physiology have not been previously described. We present a case of D-TGA in which serial assessment using fetal echocardiography enabled observation of the in-utero progression of disease, predicting postnatal compromise and facilitating the planning of life-saving specialized delivery room care and intervention. PMID:27589547

  7. Spontaneous closure of congenital coronary artery fistulas

    PubMed Central

    Schleich, J; Rey, C; Gewillig, M; Bozio, A

    2001-01-01

    Six cases of full spontaneous closure of congenital coronary artery fistulas, and one case of near closure, as seen by colour Doppler echocardiography, are presented. It is worth reconsidering the classical view that nearly all cases of spontaneous closure are eligible for surgical or percutaneous correction to prevent the development of significant and potentially fatal complications. As the natural course of coronary artery fistulas is still poorly defined, asymptomatic patients, especially those under 7 years old with small shunts, should be periodically followed up by echocardiography rather than be subjected to operative closure, even by catheterisation.


Keywords: congenital heart disease; coronary artery disease; coronary artery fistula; spontaneous closure PMID:11250983

  8. 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

  9. Congenital abnormalities of the posterior fossa.

    PubMed

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

    2015-01-01

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

  10. Congenital abnormalities of the posterior fossa.

    PubMed

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

    2015-01-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence. PMID:25590398

  11. 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

  12. 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

  13. [Diagnosis of congenital infection].

    PubMed

    Sampedro Martínez, Antonio; Martínez, Luis Aliaga; Teatino, Pablo Mazuelas; Rodríguez-Granger, Javier

    2011-12-01

    In general, congenital diagnosis is based on: a) maternal serologic assays; b) microbiologic study of amniotic fluid or fetal blood sampling; and c) serology in children and microorganism detection by polymerase chain reaction (PCR) or culture. Congenital infections due to cytomegalovirus, herpes simplex, varicella, B19 erythrovirus and toxoplasmosis are usually the result of primary infection in the mother. Therefore, when IgG antibodies are detected before pregnancy, these infections are ruled out. Definitive serologic diagnosis of acute infection in pregnant women requires the demonstration of seroconversion (i.e., from seronegative to seropositive). In these cases, amniotic fluid or fetal blood sampling should be performed to determine the presence of intrauterine congenital infection. Cytomegalovirus, rubella and toxoplasmosis can be diagnosed by detection of specific IgM antibodies in fetal blood. However, PCR in amniotic fluid has replaced conventional prenatal diagnostic techniques, including fetal blood sampling, in the diagnosis of these infections. In the newborn, these infections may be confirmed by measuring IgM specific antibodies. B19 erythrovirus can be detected by PCR in amniotic fluid or fetal blood. Congenital varicella-zoster infection may be diagnosed on the basis of persistence of IgG antibodies after birth. Definitive diagnosis of herpes simplex virus infection requires viral isolation. Swabs or scraping from clinical specimens can be inoculated into susceptible cell lines for isolation. PMID:22305665

  14. Congenital complete atrioventricular block.

    PubMed Central

    Kertesz, N J; Fenrich, A L; Friedman, R A

    1997-01-01

    Congenital complete atrioventricular block is found in 1 of 22,000 live births. Over time, it has become apparent that these patients represent not a single distinct disease process, but several processes with the common manifestation of atrioventricular block. The evaluation of these patients to determine their risk of sudden death and need for pacing is not well defined. Images PMID:9456483

  15. 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

  16. 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 ...

  17. Congenital Heart Information Network

    MedlinePlus

    ... Barmash and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright ©1996 - 2016 C.H.I.N. All rights reserved TX4-390-685 Original site design and HTML by Panoptic Communications

  18. Autism and Congenital Blindness.

    ERIC Educational Resources Information Center

    Hobson, R. Peter; Lee, Anthony; Brown, Rachel

    1999-01-01

    This study compared a group of nine children (ages 3 to 8) with congenital blindness and an autism-like syndrome with nine sighted children. Children with autism had more severe abnormalities in terms of their relationships with people and emotional expressions, and were more impaired in the area of pretend play. (CR)

  19. Multiple congenital coagulation deficiencies.

    PubMed

    BONNIN, J A; HICKS, N D; INNIS, M D; SIMPSON, D A

    1960-07-01

    A 6-week-old infant is presented who suffered from a congenital haemorrhagic disorder which caused death from subdural haemorrhage following mild trauma. Haematological investigation revealed deficiencies of factor VII and Christmas factor. Prower-Stuart factor was probably also deficient although investigation of this clotting factor was carried out only on serum obtained at necropsy.

  20. Congenital craniofacial asymmetry: early treatment.

    PubMed

    Whitaker, L A; Schut, L; Rosen, H M

    1981-01-01

    Congenital craniofacial asymmetry has two dominant causes: isolated synostosis and craniofacial clefts. Treatment considerations in these problems differ from those with isolated cranial or isolated facial defects. Isolated cranial defects are most frequently treated by the neurosurgeon with craniectomy alone. Isolated facial asymmetry when congenital in origin usually manifests as hemifacial microsomia and based on our experience with 40 such patients, is best treated in later childhood. Treatment timing of craniofacial asymmetry varies with the cause, but is best done in the first two years of life. Nasofrontal encephaloceles are usually best treated in the first few weeks of life; synostosis syndromes are treated at six months of age after the facial sutures have had time to stabilize sufficiently for adequate dissection and mobilization; and other craniofacial clefts at approximately two years of age following descent of the teeth and better homeostatic capability of the patient. Based on our series of 58 patients, 40 treated with isolated synostosis at less than one year of age, eight at more than one year of age, and ten patients with craniofacial clefts, the guidelines for timing and methods of treatment have evolved. Liberal use of craniectomy bone with expected regrowth is possible in the first year of life, and more limited use in the second year of life. This bone is used to hold the repositioned orbit, augment hypoplastic zygomas, and reconstruct noses, or for other uses. In isolated synostosis, repositioning provides a form of immediate catch-up growth then proceeds normally. In craniofacial clefts, repositioning puts structures into normal relations and growth likewise proceeds normally. The isolated synostosis syndromes treated at a later age are done with more difficulty, though may be effectively cared for. Complications other than incomplete structural correction have been nonexistent in the group two years of age and less.

  1. 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…

  2. Inferring the History of Interchromosomal Gene Transposition in Drosophila Using n-Dimensional Parsimony

    PubMed Central

    Han, Mira V.; Hahn, Matthew W.

    2012-01-01

    Gene transposition puts a new gene copy in a novel genomic environment. Moreover, genes moving between the autosomes and the X chromosome experience change in several evolutionary parameters. Previous studies of gene transposition have not utilized the phylogenetic framework that becomes possible with the availability of whole genomes from multiple species. Here we used parsimonious reconstruction on the genomic distribution of gene families to analyze interchromosomal gene transposition in Drosophila. We identified 782 genes that have moved chromosomes within the phylogeny of 10 Drosophila species, including 87 gene families with multiple independent movements on different branches of the phylogeny. Using this large catalog of transposed genes, we detected accelerated sequence evolution in duplicated genes that transposed when compared to the parental copy at the original locus. We also observed a more refined picture of the biased movement of genes from the X chromosome to the autosomes. The bias of X-to-autosome movement was significantly stronger for RNA-based movements than for DNA-based movements, and among DNA-based movements there was an excess of genes moving onto the X chromosome as well. Genes involved in female-specific functions moved onto the X chromosome while genes with male-specific functions moved off the X. There was a significant overrepresentation of proteins involving chromosomal function among transposed genes, suggesting that genetic conflict between sexes and among chromosomes may be a driving force behind gene transposition in Drosophila. PMID:22095076

  3. Debating trans inclusion in the feminist movement: a trans-positive analysis.

    PubMed

    Green, Eli R

    2006-01-01

    The debate over whether or not to allow, accept, and embrace transpeople as a segment of the feminist movement has been a tumultuous one that remains unresolved. Prominent authors have argued both sides of the dispute. This article analyzes the anti-inclusion feminist viewpoint and offers a trans-positive perspective for moving toward a potential resolution of the debate.

  4. 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.

  5. Quantitatively increased somatic transposition of transposable elements in Drosophila strains compromised for RNAi.

    PubMed

    Xie, Weiwu; Donohue, Ryan C; Birchler, James A

    2013-01-01

    In Drosophila melanogaster, small RNAs homologous to transposable elements (TEs) are of two types: piRNA (piwi-interacting RNA) with size 23-29nt and siRNA (small interfering RNA) with size 19-22nt. The siRNA pathway is suggested to silence TE activities in somatic tissues based on TE expression profiles, but direct evidence of transposition is lacking. Here we developed an efficient FISH (fluorescence in Situ hybridization) based method for polytene chromosomes from larval salivary glands to reveal new TE insertions. Analysis of the LTR-retrotransposon 297 and the non-LTR retroposon DOC shows that in the argonaut 2 (Ago2) and Dicer 2 (Dcr2) mutant strains, new transposition events are much more frequent than in heterozygous strains or wild type strains. The data demonstrate that the siRNA pathway represses TE transposition in somatic cells. Nevertheless, we found that loss of one functional copy of Ago2 or Dcr2 increases somatic transpositions of the elements at a lower level depending on the genetic background, suggesting a quantitative role for RNAi core components on mutation frequency. PMID:23940807

  6. 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

  7. Canine transposition following trauma and loss of a central incisor: treatment options.

    PubMed

    Lewis, B; Durning, P; McLaughlin, W; Nicholson, P T

    2005-03-01

    The aim of this article is to make clinicians aware of the possibility of canine transposition following loss of the upper central incisor. Using two case reports it considers the opportunities for rehabilitation of the occlusion, and discusses surgical, orthodontic and restorative considerations. PMID:15784937

  8. 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…

  9. Robotic-assisted Laparoscopic Transposition of the Left Renal Vein for Treatment of the Nutcracker Syndrome.

    PubMed

    Wang, Ping; Jing, Taile; Qin, Jie; Xia, Dan; Wang, Shuo

    2015-12-01

    Nutcracker syndrome is a rare condition of left renal vein entrapment manifesting with hematuria and flank pain. We report a case of nutcracker syndrome, where a robotic-assisted laparoscopic transposition of the left renal vein was performed. To our knowledge, this is the first case of robotic-assisted laparoscopic surgery of a nutcracker syndrome.

  10. Political Correctness--Correct?

    ERIC Educational Resources Information Center

    Boase, Paul H.

    1993-01-01

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

  11. 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

  12. 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.

  13. Congenital lipodystrophies and dyslipidemias.

    PubMed

    Prieur, Xavier; Le May, Cedric; Magré, Jocelyne; Cariou, Bertrand

    2014-09-01

    Lipodystrophies are rare acquired and genetic disorders characterized by the selective loss of adipose tissue. One key metabolic feature of patients with congenital inherited lipodystrophy is hypertriglyceridemia. The precise mechanisms by which the lack of adipose tissue causes dyslipidemia remain largely unknown. In recent years, new insights have arisen from data obtained in vitro in adipocytes, yeast, drosophila, and very recently in several genetically modified mouse models of generalized lipodystrophy. A common metabolic pathway involving accelerated lipolysis and defective energy storage seems to contribute to the dyslipidemia associated with congenital generalized lipodystrophy syndromes, although the pathophysiological changes may vary with the nature of the mutation involved. Therapeutic management of dyslipidemia in patients with lipodystrophy is primarily based on specific approaches using recombinant leptin therapy. Preclinical studies suggest a potential efficacy of thiazolidinediones that remains to be assessed in dedicated clinical trials.

  14. Congenital brachymetatarsia: three cases.

    PubMed

    Ferrández, L; Yubero, J; Usabiaga, J; Ramos, L

    1993-01-01

    We report on three cases with congenital brachymetatarsia, one with bilateral affectation, together with the results of a lengthening of the short metatarsal bones by progressive axial distraction using an external minifixator. The method proved to be easy to implement, permitting immediate functionality of the ankle and early load bearing. The immediate results (cosmetic) and later findings (functional) were excellent in all three cases. PMID:8314189

  15. Surgical Treatment of Congenital Hallux Varus

    PubMed Central

    Shim, Jong Sup; Koh, Kyoung Hwan; Lee, Do Kyung

    2014-01-01

    Background The purpose of this study was to report outcomes of congenital hallux varus deformity after surgical treatment. Methods We evaluated ten feet of eight patients with a congenital hallux varus deformity, including four feet combined with a longitudinal epiphyseal bracket (LEB). There were seven male patients and one female patient with a mean age of 33 months (range, 7 to 103 months) at the time of surgery. Two patients were bilaterally involved. The mean duration of follow-up was 5.9 years (range, 2.3 to 13.8 years). Clinical outcomes were assessed according to the criteria of Phelps and Grogan. Surgical procedures included the Farmer procedure, the McElvenny procedure or an osteotomy at the first metatarsal or proximal phalanx. Results The clinical results were excellent in two feet, good in six and poor in two feet. The LEB was associated with hallux varus in four feet and were treated by osteotomy alone or in conjunction with soft tissue procedure. Conclusions Congenital hallux varus was successfully corrected by surgery with overall favorable outcome. Preoperatively, a LEB should be considered as a possible cause of the deformity in order to prevent recurrent or residual varus after surgery. PMID:24900905

  16. 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

  17. Congenital hemangiopericytoma: two case reports.

    PubMed

    Bosch, A M; Hack, W W; Ekkelkamp, S

    1998-03-01

    Congenital hemangiopericytoma is a rare tumor consisting of capillaries surrounded by pericytes. Only histologically can the tumor be distinguished from other vascular hamartomas. For a long time the congenital type was considered benign; however, metastases have recently been described. A histologic diagnosis of all soft-tissue sarcomas should be made. We describe two patients with congenital hemangiopericytomas in whom the diagnosis was not suspected until after histologic examination. Long-term follow-up is indicated.

  18. Congenital Dislocation of the Hip

    PubMed Central

    Premi, J. M.

    1976-01-01

    The implications of a diagnosis of congenital dislocation of the hip and the importance of the role of the family physician in early detection and treatment are identified. A review of the salient clinical features of congenital dislocation of the hip is undertaken. The results of a survey carried out in the author's practice on an unusual incidence of congenital dislocated hip are reviewed. PMID:21308053

  19. 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.

  20. Micropenis and congenital adrenal hypoplasia.

    PubMed

    Bourgeois, M J; Jones, B; Waagner, D C; Dunn, D

    1989-01-01

    Micropenis is often an early sign of congenital hypopituitarism. It has also been associated with congenital adrenal hypoplasia in infants with anencephaly and pituitary agenesis. This report is on two infants with micropenis and congenital adrenal hypoplasia. One presented with a similar clinical course and postmortem findings to previously reported cases of adrenal hypoplasia and pituitary agenesis. The other patient represents the first reported case of an infant with micropenis and congenital adrenal hypoplasia in the absence of pituitary agenesis. The histologic patterns of adrenal hypoplasia, as well as the etiologic and clinical implications of its association with micropenis, are discussed.

  1. 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. PMID:27625883

  2. Congenital optic nerve anomalies and hereditary optic neuropathies.

    PubMed

    Heidary, Gena

    2014-12-01

    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. PMID:27625883

  3. 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 ...

  4. 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) ...

  5. [Dome shaped osteotomy combined with transposition of the ulnar nerve as a treatment for post-traumatic ulnar valgus in a pediatric patient].

    PubMed

    Pino-Almero, L; Mínguez-Rey, M F; Gomar-Sancho, F

    2015-01-01

    A sequel of supracondylar fractures of distal humerus in children is the angular deformity. It is usually more frequent cubitus varus, but there are reported cases of cubitus valgus. The latter may be the cause of the occurrence of a late ulnar nerve neuropathy, which will require treatment. There is controversy as to whether it is possible to successfully treat both problems at the same surgical procedure. This article describes the case of a girl of 11 years old, who has a cubitus valgus deformity secondary to supracondylar fracture of distal humerus of right elbow at the age of seven years, associated with progressive symptoms of ulnar nerve neuropathy. This patient was treated successfully by a single procedure for corrective dome-shaped supracondilar osteotomy associated with subcutaneous anterior transposition of the ulnar nerve through a posterior approach.

  6. New domino transposition/intramolecular Diels-Alder reaction in monocyclic allenols: a general strategy for tricyclic compounds.

    PubMed

    Alcaide, Benito; Almendros, Pedro; Aragoncillo, Cristina; Redondo, María C

    2002-07-21

    A novel and direct synthetic strategy to prepare fused tricycles has been developed from monocyclic allenols, masked functionalized dienes, which underwent a domino allenol transposition/intramolecular Diels-Alder reaction.

  7. [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

  8. 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

  9. 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

  10. 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

  11. Congenital granular cell epulis.

    PubMed

    Conrad, Rachel; Perez, Mia C N

    2014-01-01

    Congenital granular cell epulis is a rarely reported lesion of unknown histogenesis with a strong predilection for the maxillary alveolar ridge of newborn girls. Microscopically, it demonstrates nests of polygonal cells with granular cytoplasm, a prominent capillary network, and attenuated overlying squamous epithelium. The lesion lacks immunoreactivity for S-100, laminin, chromogranin, and most other markers except neuron-specific enolase and vimentin. Through careful observation of its unique clinical, histopathologic, and immunohistochemical features, this lesion can be distinguished from the more common adult granular cell tumor as well as other differential diagnoses.

  12. Neonatal congenital microvillus atrophy

    PubMed Central

    Pecache, N; Patole, S; Hagan, R; Hill, D; Charles, A; Papadimitriou, J

    2004-01-01

    Congenital microvillous atrophy (CMVA) is the leading cause of neonatal secretory diarrhoea with onset either in the first 72 hours of life (early onset) or at 6–8 weeks after birth (late onset). To date over 30 cases have been reported worldwide. The prognosis for this life threatening condition continues to be poor. Therapeutic agents like somatostatin and epidermal growth factor are either ineffective or of marginal benefit. Overall five year survival after small bowel transplantation is currently ∼50%. The following brief review is aimed towards helping neonatologists/perinatologists in the early diagnosis, and management of CMVA and in counselling the parents appropriately. PMID:14970294

  13. 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

  14. Surgical management of congenital coronary artery fistulas.

    PubMed Central

    Lowe, J E; Oldham, H N; Sabiston, D C

    1981-01-01

    Congenital fistulas are the most common of the coronary arterial malformations and with the widespread use of selective coronary arteriography are being recognized with increasing frequency. Twenty-eight patients with congenital coronary fistulas have been evaluated at the Duke University Medical Center between 1960 and 1981. An additional 258 patients have previously been reported in the literature, making a total of 286 available for review. The right coronary artery is most commonly involved, and the fistulous communication is most often to the right ventricle, right atrium or pulmonary artery. Slightly more than half of the patients with coronary fistulas are symptomatic at the time the diagnosis is made. Surgical correction is strongly recommended to prevent the development of congestive heart failure, angina, subacute bacterial endocarditis, myocardial infarction, and pulmonary hypertension, as well as coronary aneurysm formation, with subsequent rupture or embolization. There were no operative or late deaths in the patients who underwent operations. Moreover, there have been no recurrent fistulas during a mean follow-up period of ten years. The risks of operative correction appear to be considerably less than the potential for development of serious and potentially fatal complications, even in asymptomatic patients. Images Fig. 2a. Fig. 2b. Fig. 3. PMID:7283502

  15. Aortic dilatation and aortopathy in congenital heart diseases.

    PubMed

    Zanjani, Keyhan Sayadpour; Niwa, Koichiro

    2013-01-01

    Longer survival after corrective surgery for congenital heart diseases has rendered late complications more important. One of these complications is aortic dilatation which may occur in patients with repaired or unrepaired disease and can progress to aneurysm, dissection, and rupture. This aortic dilatation in various congenital heart diseases does not simply mean anatomical dilatation of the aortic root, but it closely relates to the aortic pathophysiological abnormality, aortic regurgitation, and aortic and ventricular dysfunction; therefore, we can recognize this complex lesion as a new concept: "aortopathy". The pathophysiology of this disease is complex and only partially understood. In this review, we first discuss history, pathophysiology, and clinical features of aortic dilatation and aortopathy of congenital heart disease. Then we provide a review of the evaluation and management of this disease.

  16. Knowledge and Awareness of Congenital Cytomegalovirus Among Women

    DOE PAGES

    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

  17. 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.

  18. 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

  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. Pig transgenesis by piggyBac transposition in combination with somatic cell nuclear transfer.

    PubMed

    Wu, Zhenfang; Xu, Zhiqian; Zou, Xian; Zeng, Fang; Shi, Junsong; Liu, Dewu; Urschitz, Johann; Moisyadi, Stefan; Li, Zicong

    2013-12-01

    The production of animals by somatic cell nuclear transfer (SCNT) is inefficient, with approximately 2% of micromanipulated oocytes going to term and resulting in live births. However, it is the most commonly used method for the generation of cloned transgenic livestock as it facilitates the attainment of transgenic animals once the nuclear donor cells are stably transfected and more importantly as alternatives methods of transgenesis in farm animals have proven even less efficient. Here we describe piggyBac-mediated transposition of a transgene into porcine primary cells and use of these genetically modified cells as nuclear donors for the generation of transgenic pigs by SCNT. Gene transfer by piggyBac transposition serves to provide an alternative approach for the transfection of nuclear donor cells used in SCNT.

  1. 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.

  2. 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.

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

    PubMed

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

    2015-11-26

    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.

  4. 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

  5. Regiochemical control in the metal-catalyzed transposition of allylic silyl ethers.

    PubMed

    Hansen, Eric C; Lee, Daesung

    2006-06-28

    A novel mode of regiochemical control over the allylic [1,3]-transposition of silyloxy groups catalyzed by Re2O7 has been developed. This strategy relies on a cis-oriented vinyl boronate, generated from the Alder-ene reaction of homoallylic silyl ethers and alkynyl boronates, to trap out the allylic hydroxyl group. The resulting cyclic boronic acids are excellent partners for cross-coupling reactions. High chirality transfer is observed for the rearrangement of enantioenriched allylic silyl ethers.

  6. 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

  7. 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

  8. 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

  9. A Segmental Deletion Series Generated by Sister-Chromatid Transposition of Ac Transposable Elements in Maize

    PubMed Central

    Zhang, Jianbo; Peterson, Thomas

    2005-01-01

    Certain configurations of maize Ac/Ds transposon termini can undergo alternative transposition reactions leading to chromosome breakage and various types of stable chromosome rearrangements. Here, we show that a particular allele of the maize p1 gene containing an intact Ac element and a nearby terminally deleted Ac element (fAc) can undergo sister-chromatid transposition (SCT) reactions that generate large flanking deletions. Among 35 deletions characterized, all begin at the Ac termini in the p1 gene and extend to various flanking sites proximal to p1. The deletions range in size from the smallest of 12,567 bp to the largest of >4.6 cM; >80% of the deletions removed the p2 gene, a paralog of p1 located ∼60 kb from p1 in the p1-vv allele and its derivatives. Sequencing of representative cases shows that the deletions have precise junctions between the transposon termini and the flanking genomic sequences. These results show that SCT events can efficiently generate interstitial deletions that are useful for in vivo dissection of local genome regions and for the rapid correlation of genetic and physical maps. Finally, we discuss evidence suggesting that deletions induced by alternative transposition reactions can occur at other genomic loci, indicating that this mechanism may have had a significant impact on genome evolution. PMID:15965263

  10. Chooramani technique: A novel method of omental transposition in traumatic spinal cord injury

    PubMed Central

    Chooramani, Gopal S.; Singh, Girish Kumar; Srivastava, Rajeshwar Nath; Jaiswal, Pramod Kumar; Srivastava, Chhitij

    2013-01-01

    Background: Spinal cord injury often results in significant catastrophic disability. Placement of the intact omentum upon a recently traumatized spinal cord was found to be effective. It represents a very suitable organ for revascularization of the ischemic nervous tissue, due to its abundance in blood and lymph vessels and its capability to adhere to the surface of the lesion, with capillary overgrowing in 4-6 h. The traditional method of omentum transposition is a hectic and time-consuming two-stage procedure in which position is changed twice. The major disadvantage of this two-staged procedure is that it takes longer operative time, and there is high risk of infection due to change of position with an open wound. So there is a need for modifications so that the procedure can be made easier and complications can be avoided. Objective: To avoid the complications and to make the procedure easier, a single-staged procedure called ‘chooramani technique’ for omental transposition in spinal cord injury is proposed. Materials and Methods: The study was conducted on 16 patients of post-traumatic thoraco-lumbar spinal cord injury with paraplegia. Results: Complications like wound infection, incisional hernia, and CSF leak were avoided. Operative time reduced to approximately half. Conclusion: This modification of technique is relatively easy and can be adopted for patients undergoing omental transposition for spinal cord injury. PMID:24551001

  11. DNA transposition by protein transduction of the piggyBac transposase from lentiviral Gag precursors

    PubMed Central

    Cai, Yujia; Bak, Rasmus O.; Krogh, Louise Bechmann; Staunstrup, Nicklas H.; Moldt, Brian; Corydon, Thomas J.; Schrøder, Lisbeth Dahl; Mikkelsen, Jacob Giehm

    2014-01-01

    DNA transposon-based vectors have emerged as gene vehicles with a wide biomedical and therapeutic potential. So far, genomic insertion of such vectors has relied on the co-delivery of genetic material encoding the gene-inserting transposase protein, raising concerns related to persistent expression, insertional mutagenesis and cytotoxicity. This report describes potent DNA transposition achieved by direct delivery of transposase protein. By adapting integrase-deficient lentiviral particles (LPs) as carriers of the hyperactive piggyBac transposase protein (hyPBase), we demonstrate rates of DNA transposition that are comparable with the efficiency of a conventional plasmid-based strategy. Embedded in the Gag polypeptide, hyPBase is robustly incorporated into LPs and liberated from the viral proteins by the viral protease during particle maturation. We demonstrate lentiviral co-delivery of the transposase protein and vector RNA carrying the transposon sequence, allowing robust DNA transposition in a variety of cell types. Importantly, this novel delivery method facilitates a balanced cellular uptake of hyPBase, as shown by confocal microscopy, and allows high-efficiency production of clones harboring a single transposon insertion. Our findings establish engineered LPs as a new tool for transposase delivery. We believe that protein transduction methods will increase applicability and safety of DNA transposon-based vector technologies. PMID:24270790

  12. 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

  13. Intense Transpositional Activity of Insertion Sequences in an Ancient Obligate Endosymbiont

    PubMed Central

    Pichon, Samuel; Ling, Alison; Pérez, Philippe; Delaunay, Carine; Vavre, Fabrice; Bouchon, Didier; Grève, Pierre

    2008-01-01

    The streamlined genomes of ancient obligate endosymbionts generally lack transposable elements, such as insertion sequences (IS). Yet, the genome of Wolbachia, one of the most abundant bacterial endosymbionts on Earth, is littered with IS. Such a paradox raises the question as to why there are so many ISs in the genome of this ancient endosymbiont. To address this question, we investigated IS transpositional activity in the unculturable Wolbachia by tracking the evolutionary dynamics and history of ISWpi1 elements. We show that 1) ISWpi1 is widespread in Wolbachia, being present in at least 55% of the 40 sampled strains, 2) ISWpi1 copies exhibit virtually identical nucleotide sequences both within and among Wolbachia genomes and possess an intact transposase gene, 3) individual ISWpi1 copies are differentially inserted among Wolbachia genomes, and 4) ISWpi1 occurs at variable copy numbers among Wolbachia genomes. Collectively, our results provide compelling evidence for intense ISWpi1 transpositional activity and frequent ISWpi1 horizontal transmission among strains during recent Wolbachia evolution. Thus, the genomes of ancient obligate endosymbionts can carry high loads of functional and transpositionally active transposable elements. Our results also indicate that Wolbachia genomes have experienced multiple and temporally distinct ISWpi1 invasions during their evolutionary history. Such recurrent exposition to new IS invasions may explain, at least partly, the unusually high density of transposable elements found in the genomes of Wolbachia endosymbionts. PMID:18562339

  14. [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

  15. Congenital Cytomegalovirus Infection.

    PubMed

    Bale, James F.; Miner, Lonnie; Petheram, Susan J.

    2002-05-01

    Intrauterine infection with cytomegalovirus (CMV), a betaherpesvirus, remains the most frequent congenital virus infection in many regions of the world. Although most CMV-infected newborns lack signs of CMV infection, approximately 10% have signs that can consist of low birth weight, jaundice, hepatosplenomegaly, skin rash, microcephaly, and chorioretinitis. Neonates with signs of CMV infection at birth have high rates of audiologic and neurodevelopmental sequelae. Although postnatal therapy with ganciclovir transiently reduces virus shedding and may lessen the audiologic consequences of CMV in some infected infants, additional strategies are needed to prevent congenital CMV disease and to improve the neurodevelopmental prognosis of infants infected with CMV in utero. Some cases of intrauterine infections can be prevented in susceptible women by avoiding contact with the urine or saliva of young children who may be shedding CMV. Vaccines against CMV remain in the experimental stages of development. Termination of pregnancy can be offered to women whose infants have evidence of intrauterine CMV infection and sonographic signs of central nervous system damage. Infants who survive symptomatic intrauterine infections have high rates of neurodevelopmental sequelae and require comprehensive evaluation and therapy through center and home-based early intervention programs. PMID:11931729

  16. [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.

  17. [Genetics of congenital deafness].

    PubMed

    Faundes, Víctor; Pardo, Rosa Andrea; Castillo Taucher, Silvia

    2012-10-20

    Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.

  18. Autonomic regulation in fetuses with Congenital Heart Disease

    PubMed Central

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

    2015-01-01

    Background Exposure to antenatal stressors affects autonomic regulation in fetuses. Whether the presence of congenital heart disease (CHD) alters the developmental trajectory of autonomic regulation is not known. Aims/Study Design This prospective observational cohort study aimed to further characterize autonomic regulation in fetuses with CHD; specifically hypoplastic left heart syndrome (HLHS), transposition of the great arteries (TGA), and tetralogy of Fallot (TOF). Subjects From 11/2010 – 11/2012, 92 fetuses were enrolled: 41 controls and 51 with CHD consisting of 19 with HLHS, 12 with TGA, and 20 with TOF. Maternal abdominal fetal electrocardiogram (ECG) recordings were obtained at 3 gestational ages: 19-27 weeks (F1), 28-33 weeks (F2), and 34-38 weeks (F3). Outcome measures Fetal ECG was analyzed for mean heart rate along with 3 measures of autonomic variability of the fetal heart rate: interquartile range, standard deviation, and root mean square of the standard deviation of the heart rate (RMSSD), a measure of parasympathetic activity. Results During F1 and F2 periods, HLHS fetuses demonstrated significantly lower mean HR than controls (p<0.05). Heart rate variability at F3, as measured by standard deviation, interquartile range, and RMSSD was lower in HLHS than controls (p<0.05). Other CHD subgroups showed a similar, though non-significant trend towards lower variability. Conclusions Autonomic regulation in CHD fetuses differs from controls with HLHS fetuses most markedly affected. PMID:25662702

  19. Congenital heart malformations in the first year of life--a necropsy study.

    PubMed Central

    Hegerty, A S; Anderson, R H; Ho, S Y

    1985-01-01

    The hearts of 291 babies with congenital heart disease who died before the age of one were examined systematically by sequential segmental analysis to determine the lesions that were present. There was an abnormal connection between the cardiac segments in one third of cases. Patient ductus arteriosus, which is usually a common defect, was not an important finding at necropsy, whereas common arterial trunk (a rare defect) was found in 10%. The clinical and necropsy incidence of complete transposition was similar to that reported in earlier studies. The incidence of some lesions present at necropsy (for example Fallot's tetralogy) has altered over the past 10 years. A decline in the frequency with which a lesion is detected at necropsy may indicate advances in treatment or differences in classification. The presence of additional lesions influences the prognosis and subcategorisation within the major defect groupings gave some insight into the cause of death in many of the cases. Images PMID:4074590

  20. 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

  1. Congenital myopathies and muscular dystrophies.

    PubMed

    Gilbreath, Heather R; Castro, Diana; Iannaccone, Susan T

    2014-08-01

    The congenital muscular dystrophies (CMD) and myopathies (CM) are a diverse group of diseases that share features such as early onset of symptoms (in the first year of life), genetic causes, and high risks for restrictive lung disease and orthopedic deformities. Understanding for disease mechanism is available and a fairly well-structured genotype-phenotype correlation for all the CMDs and CMs is now available. To best illustrate the clinical spectrum and diagnostic algorithm for these diseases, this article presents 5 cases, including Ullrich congenital muscular dystrophy, nemaline myopathy, centronuclear myopathy, merosin deficiency congenital muscular dystrophy, and core myopathy.

  2. Congenital myopathies and muscular dystrophies.

    PubMed

    Gilbreath, Heather R; Castro, Diana; Iannaccone, Susan T

    2014-08-01

    The congenital muscular dystrophies (CMD) and myopathies (CM) are a diverse group of diseases that share features such as early onset of symptoms (in the first year of life), genetic causes, and high risks for restrictive lung disease and orthopedic deformities. Understanding for disease mechanism is available and a fairly well-structured genotype-phenotype correlation for all the CMDs and CMs is now available. To best illustrate the clinical spectrum and diagnostic algorithm for these diseases, this article presents 5 cases, including Ullrich congenital muscular dystrophy, nemaline myopathy, centronuclear myopathy, merosin deficiency congenital muscular dystrophy, and core myopathy. PMID:25037085

  3. Congenital Self-Healing Reticulohistiocytosis

    PubMed Central

    Lee, Young H.; Talekar, Mala K.; Chung, Catherine G.; Bell, Moshe D.

    2014-01-01

    Congenital self-healing reticulohistiocytosis, also known as congenital self-healing Langerhans cell histiocytosis or Hashimoto-Pritzker disease, is a Langerhans cell histiocytosis. It is characterized by skin lesions in the newborn period in an otherwise healthy infant that show a Langerhans cell infiltrate in the skin on histological analysis. These findings subsequently spontaneously involute. This report describes two newborns who presented at birth with differing presentations of congenital self-healing reticulohistiocytosis. A review of the disorder, including diagnosis and evaluation, is presented. PMID:24578781

  4. 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.

  5. 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

  6. Congenital erythropoietic porphyria.

    PubMed

    Fritsch, C; Lang, K; Bolsen, K; Lehmann, P; Ruzicka, T

    1998-01-01

    Congenital erythropoietic porphyria (CEP) is one of the rarest autosomal-recessive disorders of the porphyrin metabolism caused by the homozygous defect of uroporphyrinogen III cosynthase. High amounts of uroporphyrin I accumulate in all cells and tissues, reflected by an increased erythrocyte porphyrin concentration and excretion of high porphyrin amounts in urine and feces. Dermal deposits of uroporphyrin frequently induce a dramatic phototoxic oxygen-dependent skin damage with extensive ulcerations and mutilations. Splenomegaly and hemolytic anemia are typical internal symptoms. Skeletal changes such as osteolysis and calcifications are frequent. Up to date 130 cases of CEP have been published. Splenectomy and erythrocyte transfusions showed some beneficial effect. Bone marrow transplantation was performed in 3 patients and stem cell transplantation in 1. The best therapy is the avoidance of sunlight. We give a report on our latest cases of CEP. PMID:10343205

  7. Gain-of-Function Mutations in Tnsc, an Atp-Dependent Transposition Protein That Activates the Bacterial Transposon Tn7

    PubMed Central

    Stellwagen, A. E.; Craig, N. L.

    1997-01-01

    The bacterial transposon Tn7 encodes five genes whose protein products are used in different combinations to direct transposition to different types of target sites. TnsABC+D directs transposition to a specific site in the Escherichia coli chromosome called attTn7, whereas TnsABC+E directs transposition to non-attTn7 sites. These transposition reactions can also recognize and avoid ``immune'' targets that already contain a copy of Tn7. TnsD and TnsE are required to activate TnsABC as well as to select a target site; no transposition occurs with wild-type TnsABC alone. Here, we describe the isolation of TnsC gain-of-function mutants that activate the TnsA+B transposase in the absence of TnsD or TnsE. Some of these TnsC mutants enable the TnsABC machinery to execute transposition without sacrificing its ability to discriminate between different types of targets. Other TnsC mutants appear to constitutively activate the TnsABC machinery so that it bypasses target signals. We also present experiments that suggest that target selection occurs early in the Tn7 transposition pathway in vivo: favorable attTn7 targets appear to promote the excision of Tn7 from the chromosome, whereas immune targets do not allow transposon excision to occur. This work supports the view that TnsC plays a central role in the evaluation and utilization of target DNAs. PMID:9055068

  8. 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

  9. 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.

  10. Distribution of Unlinked Transpositions of a Ds Element from a T-DNA Locus on Tomato Chromosome 4

    PubMed Central

    Briza, J.; Carroll, B. J.; Klimyuk, V. I.; Thomas, C. M.; Jones, D. A.; Jones, JDG.

    1995-01-01

    In maize, receptor sites for unlinked transpositions of Activator (Ac) elements are not distributed randomly. To test whether the same is true in tomato, the receptor sites for a Dissociation (Ds) element derived from Ac, were mapped for 26 transpositions unlinked to a donor T-DNA locus on chromosome 4. Four independent transposed Dss mapped to sites on chromosome 4 genetically unlinked to the donor T-DNA, consistent with a preference for transposition to unlinked sites on the same chromosome as opposed to sites on other chromosomes. There was little preference among the nondonor chromosomes, except perhaps for chromosome 2, which carried seven transposed Dss, but these could not be proven to be independent. However, these data, when combined with those from other studies in tomato examining the distribution of transposed Acs or Dss among nondonor chromosomes, suggest there may be absolute preferences for transposition irrespective of the chromosomal location of the donor site. If true, transposition to nondonor chromosomes in tomato would differ from that in maize, where the preference seems to be determined by the spatial arrangement of chromosomes in the interphase nucleus. The tomato lines carrying Ds elements at known locations are available for targeted transposon tagging experiments. PMID:8536985

  11. 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

  12. 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

  13. Surgical treatment of congenital coronary artery fistula.

    PubMed Central

    John, S; Perianayagam, W J; Muralidharan, S; Nandakumar, V; Mansfield, R; Krishnaswamy, S; Sukumar, I P; Cherian, G

    1981-01-01

    Six patients with congenital coronary artery fistula underwent successful corrective surgery. Precise diagnosis was established either by retrograde aortography or more recently by selective arteriography. The left coronary artery was involved in four and the right in two cases. The fistula communicated with the right ventricle in three and the right atrium in three subjects. The operative approach is dictated by the site of entry of the vessel into the cardiac chamber. The use of cardiopulmonary bypass for intracardiac repair allows accurate closure of the fistula thereby reducing the chances of recurrence. A follow-up of one to seven years showed that all patients are asymptomatic and leading normal lives. Images PMID:7314003

  14. Visual and perceptual consequences of congenital nystagmus.

    PubMed

    Bedell, Harold E

    2006-01-01

    One way to assess the influence of retinal image motion on visual functioning in congenital nystagmus (CN) is to examine the effects of comparable image motion in observers with normal vision. A second approach is to evaluate visual functioning in subjects with CN when the retinal image motion is reduced. Using these approaches, we determined that spatial contrast sensitivity and visual acuity are not limited by the parameters of retinal image motion in some subjects with CN, but rather by a form of amblyopia. Clinical evidence from patients with bilateral refractive amblyopia suggests that a gradual improvement of visual acuity may be possible in persons with CN, if the optimal refractive correction is worn and parameters of the retinal image motion undergo long-term amelioration. PMID:16702076

  15. [Congenital mesoblastic nephroma with multiple cysts].

    PubMed

    Hamzaoui, Mourad; Essid, Afif; Gasmi, Manef; Ben Attia, Moncef; Houissa, Taoufik

    2003-06-01

    Mesoblastic nephroma is a rare, benign congenital disease with a clinical presentation similar to that of Wilms tumour. It was described for the first time by BOLANDE in 1967. The authors report the case of a 6-month-old infant admitted for investigation of an abdominal mass. The radiological assessment (ultrasonography. CT) concluded on a right intrarenal retroperitoneal tumour occupying almost all of the abdominal cavity, predominantly cystic suggesting a diagnosis of non-metastatic Wilms tumour. Radical ureteronephrectomy was performed. The outcome was favourable with a follow-up of 2 years. Histological examination corrected the diagnosis to mesoblastic nephroma by showing a fibrous tumour composed of spindle cells resembling muscle cells, associated with intracystic haemorrhage. The authors emphasize the clinical and radiological features of this tumour, its treatment (exclusively surgical) and its good prognosis (98% survival).

  16. [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

  17. [Consanguinity and congenital abnormalities].

    PubMed

    Søgaard, Marie; Vedsted-Jakobsen, Agnete

    2003-04-28

    Knowledge of consanguinity is relevant for employees in the Danish national health service, since about 7.5% of the Danish population has another ethnic background than Danish and the majority comes from cultures where consanguineous marriages are not unusual. In the literature it is found that consanguineous couples have a higher risk of having children with congenital malformations. The risk is increased by a factor 2 to 2 1/2. The average risk in Denmark is about 3%. Primarily, the autosomal recessive diseases are expressed in children with consanguineous parents. In order to advise and diagnose it is essential to clarify the consanguinity state. In case of pregnancy with consanguineous parents, we recommend: 1) Counselling to estimate the risk of foetal illness and information about possible examination possibilities. 2) An ultrasound scan at the gestational age of 11-14 weeks in order to measure nuchal translucency and an early malformation scan. 3) An ultrasound scan for malformations at the gestational age of 18-20 weeks. 4) An ultrasound scan especially in order to detect foetal heart malformations at the gestational age of 20-24 weeks.

  18. Congenital mirror movements

    PubMed Central

    Méneret, Aurélie; Depienne, Christel; Riant, Florence; Trouillard, Oriane; Bouteiller, Delphine; Cincotta, Massimo; Bitoun, Pierre; Wickert, Julia; Lagroua, Isabelle; Westenberger, Ana; Borgheresi, Alessandra; Doummar, Diane; Romano, Marcello; Rossi, Simone; Defebvre, Luc; De Meirleir, Linda; Espay, Alberto J.; Fiori, Simona; Klebe, Stephan; Quélin, Chloé; Rudnik-Schöneborn, Sabine; Plessis, Ghislaine; Dale, Russell C.; Sklower Brooks, Susan; Dziezyc, Karolina; Pollak, Pierre; Golmard, Jean-Louis; Vidailhet, Marie; Brice, Alexis

    2014-01-01

    Objective: We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCC and RAD51. Methods: We studied 6 familial and 20 simplex CMM cases. Each patient had a standardized neurologic assessment. Analysis of DCC and RAD51 coding regions included Sanger sequencing and a quantitative method allowing detection of micro rearrangements. We then compared the frequency of rare variants predicted to be pathogenic by either the PolyPhen-2 or the SIFT algorithm in our population and in the 4,300 controls of European origin on the Exome Variant Server. Results: We found 3 novel truncating mutations of DCC that segregate with CMM in 4 of the 6 families. Among the 20 simplex cases, we found one exonic deletion of DCC, one DCC mutation leading to a frameshift, 5 missense variants in DCC, and 2 missense variants in RAD51. All 7 missense variants were predicted to be pathogenic by one or both algorithms. Statistical analysis showed that the frequency of variants predicted to be deleterious was significantly different between patients and controls (p < 0.001 for both RAD51 and DCC). Conclusion: Mutations and variants in DCC and RAD51 are strongly associated with CMM, but additional genes causing CMM remain to be discovered. PMID:24808016

  19. [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

  20. Anatomical variants of transposition of the main vessels and their relationship with the content of chemical elements in heart ventricles.

    PubMed

    Kliver, E E; Okuneva, G N; Levicheva, E N; Nepomnyashchikh, L M; Loginova, I Yu; Volkov, A M; Lushnikova, E L; Trunova, V A; Zvereva, V V

    2008-05-01

    Cardiometrical characteristics of anatomical variants of the main vessels transposition are determined by different functional load of heart compartments and are associated with metabolic processes of different intensity, which is confirmed by the content of chemical elements in the right- and left-ventricular myocardium. It was shown that the content of chemicals was virtually the same in both cardiac ventricles in case of main vessels transposition and isolated atrial septal defect. Positive correlations between the degree of left-ventricular hypertrophy and content of S, K, Fe, and Sr in it and a negative correlation between this hypertrophy and Cu content were revealed. Transposition of the main vessels and defects of atrial and ventricular septa were associated with different levels of chemical elements in both ventricles, particularly of Zn, Mn, Fe, and Ca.

  1. Elimination of the Yeast Rad6 Ubiquitin Conjugase Enhances Base-Pair Transitions and G.c -> T.a Transversions as Well as Transposition of the Ty Element: Implications for the Control of Spontaneous Mutation

    PubMed Central

    Kang, X.; Yadao, F.; Gietz, R. D.; Kunz, B. A.

    1992-01-01

    The RAD6 gene of the yeast Saccharomyces cerevisiae encodes an enzyme that conjugates ubiquitin to other proteins. Defects in RAD6 confer a mutator phenotype due, in part, to an increased rate of transposition of the yeast Ty element. To further delineate the role of protein ubiquitination in the control of spontaneous mutagenesis in yeast, we have characterized 202 mutations that arose spontaneously in the SUP4-o gene carried on a centromere vector in a RAD6 deletion strain. The resulting mutational spectrum was compared to that for 354 spontaneous SUP4-o mutations isolated in the isogenic wild-type parent. This comparison revealed that the rad6 mutator enhanced the rate of single base-pair substitution, as well as Ty insertion, but did not affect the rates of the other mutational classes detected. Relative to the wild-type parent, Ty inserted at considerably more SUP4-o positions in the rad6 strain with a significantly smaller fraction detected at a transposition hotspot. These findings suggest that, in addition to the rate of transposition, protein ubiquitination might influence the target site specificity of Ty insertion. The increase in the substitution rate accounted for approximately 90% of the rad6 mutator effect but only the two transitions and the G.C -> T.A transversion were enhanced. Analysis of the distribution of these events within SUP4-o suggested that the site specificity of the substitutions was influenced by DNA sequence context. Transformation of heteroduplex plasmid DNAs into the two strains demonstrated that the rad6 mutator did not reduce the efficiency of correcting mismatches that could give rise to the transitions or transversion nor did it bias restoration of the mismatches to the incorrect base-pairs. These results are discussed in relation to possible mechanisms that might link ubiquitination of proteins to spontaneous mutation rates. PMID:1311695

  2. 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

  3. 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.

  4. 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

  5. Congenital Heart Disease and Impacts on Child Development

    PubMed Central

    Mari, Mariana Alievi; Cascudo, Marcelo Matos; Alchieri, João Carlos

    2016-01-01

    Objective: To evaluate the child development and evaluate a possible association with the commitment by biopsychosocial factors of children with and without congenital heart disease. Methods: Observational study of case-control with three groups: Group 1 - children with congenital heart disease without surgical correction; Group 2 - children with congenital heart disease who underwent surgery; and Group 3 - healthy children. Children were assessed by socio-demographic and clinical questionnaire and the Denver II Screening Test. Results: One hundred and twenty eight children were evaluated, 29 in Group 1, 43 in Group 2 and 56 in Group 3. Of the total, 51.56% are girls and ages ranged from two months to six years (median 24.5 months). Regarding the Denver II, the children with heart disease had more "suspicious" and "suspect/abnormal" ratings and in the group of healthy children 53.6% were considered with "normal" development (P≤0.0001). The biopsychosocial variables that were related to a possible developmental delay were gender (P=0.042), child's age (P=0.001) and income per capita (P=0.019). Conclusion: The results suggest that children with congenital heart disease are likely to have a developmental delay with significant difference between children who have undergone surgery and those awaiting surgery under clinical follow-up. PMID:27074272

  6. 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

  7. 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

  8. 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

  9. 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

  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.

  11. 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 ...

  12. 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: ...

  13. 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 ...

  14. 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.

  15. Congenital Anomalies of the Limbs

    PubMed Central

    Gingras, G.; Mongeau, M.; Moreault, P.; Dupuis, M.; Hebert, B.; Corriveau, C.

    1964-01-01

    As a preparatory step towards the development of a complete habilitation program for children with congenital limb anomalies associated with maternal ingestion of thalidomide, the medical records of all patients with congenital limb anomalies referred to the Rehabilitation Institute of Montreal in the past decade were studied, and an examination and a thorough reassessment were made of 41 patients (21 males and 20 females). In this paper, Part I, the medical and prosthetic aspects are dealt with and a form of management is described for each type of anomaly. The conclusions are reached that prosthetic fitting and training should be initiated very early in life and that co-operation of the parent is essential to successful habilitation of a child with congenital limb anomalies. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7 PMID:14154297

  16. Infection and White Matter Injury in Infants with Congenital Heart Disease

    PubMed Central

    Glass, Hannah C.; Bowman, Chelsea; Chau, Vann; Moosa, Alisha; Hersh, Adam L.; Campbell, Andrew; Poskitt, Kenneth; Azakie, Anthony; Barkovich, A. James; Miller, Steven P; McQuillen, Patrick S

    2011-01-01

    More than 60 percent of newborns with severe congenital heart disease develop perioperative brain injuries. Known risk factors include: preoperative hypoxemia, cardiopulmonary bypass characteristics, and postoperative hypotension. Infection is an established risk factor for white matter injury in premature newborns. In this study, we examined term infants with congenital heart disease requiring surgical repair to determine whether infection is associated with white matter injury. Acquired infection was specified by site (bloodstream, pneumonia, or surgical site infection) according to strict definitions. Infection was present in 23/127. Pre and post-operative imaging was evaluated for acquired injury by a pediatric neuroradiologist. Overall, there was no difference in newly acquired postoperative white matter injury in infants with infection (30 percent), compared to those without (31 percent). When stratified by anatomy, infants with transposition of the great arteries and bloodstream infection had an estimated doubling of risk of white matter injury that was not significant, whereas those with single ventricle anatomy had no apparent added risk. When considering only infants without stroke, the estimated association was higher, and became significant after adjusting for duration of inotrope therapy. In this study, nosocomial infection was not associated with white matter injury. Nonetheless, when controlling for risk factors, there was an association between bloodstream infection and white matter injury in selected sub-populations. Infection prevention may have the potential to mitigate long-term neurologic impairment as a consequence of white matter injury, which underscores the importance of attention to infection control for these patients. PMID:21554828

  17. Congenital Sialolipoma in an Infant.

    PubMed

    Mazlumoglu, Muhammed Recai; Altas, Enver; Oner, Fatih; Ucuncu, Harun; Calik, Muhammed

    2015-11-01

    Sialolipoma is a newly recognized tumor of the major and minor salivary glands and represents only 0.3% of all salivary gland tumors. Only 3 cases of congenital sialolipoma are available in the literature. In the current case, we performed a total parotidectomy with facial nerve preservation on a 12-week-old infant exhibiting huge mass in the parotid region. Histopathology results showed sialolipoma. There was no recurrence at the 18-month follow-up. Although it is a very rare disease in infants, congenital sialolipoma should be kept in mind in patients with parotid mass. The primary treatment is parotidectomy with facial nerve preservation. PMID:26594977

  18. [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

  19. [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.

  20. Electroweak Corrections

    NASA Astrophysics Data System (ADS)

    Barbieri, Riccardo

    2016-10-01

    The test of the electroweak corrections has played a major role in providing evidence for the gauge and the Higgs sectors of the Standard Model. At the same time the consideration of the electroweak corrections has given significant indirect information on the masses of the top and the Higgs boson before their discoveries and important orientation/constraints on the searches for new physics, still highly valuable in the present situation. The progression of these contributions is reviewed.

  1. [Role of the general practitioner or primary care physician in the management of adult congenital heart disease].

    PubMed

    Thambo, Jean-Benoît

    2013-03-01

    Congenital heart diseases are the most common inborn defect, occurring approximately 0.8% according to the last European Union count. This rate is stable for decades. Nowadays, up to 90% of children born with congenital heart diseases underwent surgical correction and reach adulthood, gratefully to the surgery and interventional cardiology advances, in conjunction to the post-surgery and following cares improvement. Both of this facts results to a growing population of adults with congenital heart diseases, actually exceeding the infant population. This arising population will lead general practitioners and primary care physicians to face more often this kind of patient. The needed cares are specifics, regarding the typical evolutions of this pathologies, as well as because congenital heart diseases wil impact other pathologies or usual cares. The need of an extended knowledge of the adult patients with congenital heart diseases is clearly emerging, and should lead the whole medical corps to work in close network. PMID:23687765

  2. Qualitative and Quantitative Assays of Transposition and Homologous Recombination of the Retrotransposon Tf1 in Schizosaccharomyces pombe.

    PubMed

    Sangesland, Maya; Atwood-Moore, Angela; Rai, Sudhir K; Levin, Henry L

    2016-01-01

    Transposition and homologous recombination assays are valuable genetic tools to measure the production and integration of cDNA from the long terminal repeat (LTR) retrotransposon Tf1 in the fission yeast (Schizosaccharomyces pombe). Here we describe two genetic assays, one that measures the transposition activity of Tf1 by monitoring the mobility of a drug resistance marked Tf1 element expressed from a multi-copy plasmid and another assay that measures homologous recombination between Tf1 cDNA and the expression plasmid. While the transposition assay measures insertion of full-length Tf1 cDNA mediated by the transposon integrase, the homologous recombination assay measures levels of cDNA present in the nucleus and is independent of integrase activity. Combined, these assays can be used to systematically screen large collections of strains to identify mutations that specifically inhibit the integration step in the retroelement life cycle. Such mutations can be identified because they reduce transposition activity but nevertheless have wild-type frequencies of homologous recombination. Qualitative assays of yeast patches on agar plates detect large defects in integration and recombination, while the quantitative approach provides a precise method of determining integration and recombination frequencies.

  3. 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

  4. Impaired Development of Left Anterior Heart Field by Ectopic Retinoic Acid Causes Transposition of the Great Arteries

    PubMed Central

    Narematsu, Mayu; Kamimura, Tatsuya; Yamagishi, Toshiyuki; Fukui, Mitsuru; Nakajima, Yuji

    2015-01-01

    Background Transposition of the great arteries is one of the most commonly diagnosed conotruncal heart defects at birth, but its etiology is largely unknown. The anterior heart field (AHF) that resides in the anterior pharyngeal arches contributes to conotruncal development, during which heart progenitors that originated from the left and right AHF migrate to form distinct conotruncal regions. The aim of this study is to identify abnormal AHF development that causes the morphology of transposition of the great arteries. Methods and Results We placed a retinoic acid–soaked bead on the left or the right or on both sides of the AHF of stage 12 to 14 chick embryos and examined the conotruncal heart defect at stage 34. Transposition of the great arteries was diagnosed at high incidence in embryos for which a retinoic acid–soaked bead had been placed in the left AHF at stage 12. Fluorescent dye tracing showed that AHF exposed to retinoic acid failed to contribute to conotruncus development. FGF8 and Isl1 expression were downregulated in retinoic acid–exposed AHF, and differentiation and expansion of cardiomyocytes were suppressed in cultured AHF in medium supplemented with retinoic acid. Conclusions The left AHF at the early looped heart stage, corresponding to Carnegie stages 10 to 11 (28 to 29 days after fertilization) in human embryos, is the region of the impediment that causes the morphology of transposition of the great arteries. PMID:25929268

  5. Analysis of sequences transposed by complementation of two classes of transposition-deficient mutants of Tn3.

    PubMed Central

    Gill, R; Heffron, F; Dougan, G; Falkow, S

    1978-01-01

    The Tn1 and Tn3 elements are closely related transposons which carry the structural gene for ampicillin resistance. Two classes of deletion mutants of the plasmid pMB8::Tn3 (RSF1050) are unable to transpose ampicillin resistance but can be complemented in trans by a coresident Tn1 or Tn3 element. The analysis of the sequences transposed upon complementation of one class of mutants (type I) showed that the mutant element had undergone bona fide transposition. Complementation of the type II mutants led to the transposition of a sequence analogous to bacteriophage mu-promoted integration of non-mu DNA. The transposed sequence consisted of two Tn3 elements which flanked a single copy of the pMB8 portion of the RSF1050 genome. Complementation data indicated that the type II mutants are defective in at least one trans-acting function which must be supplied for transposition to occur. The nature of sequence transposed from the type II mutant is the consequence of a defective cis-acting function (or site). In addition, the type II mutants were defective in a trans-acting function which regulated the frequency of transposition. Images PMID:361721

  6. Evaluation of congenital dysautonomia other than Riley-Day syndrome.

    PubMed

    Alvarez, E; Ferrer, T; Pérez-Conde, C; López-Terradas, J M; Pérez-Jiménez, A; Ramos, M J

    1996-02-01

    We report on four children, from different families, who suffer from a congenital autonomic disorder, presumably inherited. Three of them have a sensory neuropathy but do not fit any described hereditary sensory and autonomic neuropathy. All four were examined along with some of their immediate family members. We assessed the cardiovagal, sympathetic adrenergic and sympathetic cholinergic functions with a battery of non-invasive tests. Results demonstrated that sudomotor and cardiovascular orthostatic regulation exhibited the greatest abnormalities, pointing to a predominant impairment of sympathetic components, both cholinergic and adrenergic. The overall examination showed a heterogeneous group of congenital dysautonomia, exclusive of Riley-Day or other recognized hereditary sensory and autonomic neuropathies. We emphasize the importance of studying whole family groups to diagnose subclinical impairment and to provide correct genetic counselling.

  7. Congenital Upper Eyelid Coloboma: Clinical and Surgical Management

    PubMed Central

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

    2015-01-01

    Purpose. The goal was to describe our experience in the surgical management and treatment of four patients with congenital upper eyelid colobomas. Methods. A descriptive, observational, retrospective study was performed including patients with congenital eyelid colobomas referred to Asociación para Evitar la Ceguera en México I.A.P. “Dr. Luis Sánchez Bulnes” between 2004 and 2014 and assessed by the Oculoplastics and Orbit Service. Results. The four cases required surgical treatment of the eyelid defects before one year of age and their evolution was monitored from the time of referral to the present day. One of the patients needed a second surgical procedure to repair the eyelid defect and correct the strabismus. Conclusions. Eyelid colobomas are a potential threat to vision at an early age, which requires close monitoring of the visual development of patients. PMID:26366313

  8. 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

  9. 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

  10. Alberta Congenital Anomalies Surveillance System.

    PubMed Central

    Lowry, R B; Thunem, N Y; Anderson-Redick, S

    1989-01-01

    The Alberta Congenital Anomalies Surveillance System was started in 1966 in response to the thalidomide tragedy earlier in the decade. It was one of four provincial surveillance systems on which the federal government relied for baseline statistics of congenital anomalies. The government now collects data from six provinces and one territory. The Alberta Congenital Anomaly Surveillance System originally depended on three types of notification to the Division of Vital Statistics, Department of Health, Government of Alberta: birth notice and certificates of death and stillbirth; increased sources of ascertainment have greatly improved data quality. We present the data for 1980-86 and compare the prevalence rates of selected anomalies with the rates from three other surveillance systems. Surveillance systems do not guarantee that a new teratogen will be detected, but they are extremely valuable for testing hypotheses regarding causation. At the very least they provide baseline data with which to compare any deviation or trend. For many, if not most, congenital anomalies total prevention is not possible; however, surveillance systems can be used to measure progress in prevention. PMID:2819634

  11. Dermatoglyphic's in Congenital Cardiac Disease.

    PubMed

    Brijendra, Singh; Renu, Gupta; Dushyant, Agrawal; Rajneesh, Garg; Sunil, Katri

    2016-02-01

    Various dermatoglyphic parameters like finger print pattern, atd angle, absolute ridge count & ab, bc ,cd, and ad ridge counts were observed in 150 cases of congenital cardiac disease, comprising of 72 cases of Ventricular Septal Defects (VSD), 60 cases of Atrial Septal Defects (ASD), 9 cases of Coarctation of Aorta (COA) & 9 cases of Tetralogy of Fallot's (TOF). Same dermatoglyphic parameters were also studied in 300 controls and statistical comparison of cases and controls was done. In our study it was observed that the congenital cardiac disease cases exhibited preponderance of whorls (55.8%) with decrease in loop pattern (36.2%) as compared to those of controls and the difference was highly significant (P<0.001). The difference in the mean total finger ridge count (TFRC) of the controls and of the cases of Congenital Cardiac Diseases (CCD) was found to be highly significant (P<0.001), while the  mean atd angle in the cases of Congenital Cardiac Disease (CCD) was widen up and was statistically significant too. The mean ab, the mean bc ridge, the mean cd ridge and the mean ad ridge counts were also higher in the various type of CCD as compared to that controls and on statistical comparison, the difference was found to be highly significant.

  12. Angiocardiography in congenital heart malformations

    SciTech Connect

    Soto, B.; Pacifico, A.D.

    1990-01-01

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

  13. 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

  14. 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

  15. 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.

  16. Anterior transposition of the ulnar nerve using a non-compressing fasciodermal sling.

    PubMed

    Eaton, R G; Crowe, J F; Parkes, J C

    1980-07-01

    Sixteen elbows of fourteen patients were analyzed five to sixty months after treatment for ulnar neuritis or neuropathy by anterior transposition of the ulnar nerve using a non-compressing fasciodermal sling to maintain the anterior position. This procedure creates a septum in the mid-lateral plane that lies posterior to the transposed nerve at the level of the medial epicondyle. Unlike previous procedures, no structure other than subcutaneous fat is located superficial to the nerve. Seven patients were baseball pitchers who had experienced transient but severe ulnarnerve paresthesias during the act of throwing. Of the sixteen extremities only one, the limb of a severely diabetic patient with bilateral ulnar neuropathy, was not relieved of preoperative complaints. There were no complications. The procedure is simple, postoperative immobilization is needed for only a brief period, and rehabilitation is rapid.

  17. Rapidly involuting congenital hemangioma with fetal involution.

    PubMed

    Maguiness, Sheilagh; Uihlein, Lily Changchien; Liang, Marilyn G; Kozakewich, Harry; Mulliken, John B

    2015-01-01

    Uncommon congenital hemangiomas differ from common infantile hemangiomas in their appearance, postnatal behavior, histopathology, and immunohistologic staining. Two types are well described in the literature: noninvoluting congenital hemangioma (NICH) and rapidly involuting congenital hemangioma (RICH). We report a series of infants with another presentation of congenital hemangioma that arises prenatally and is nearly regressed at birth. This was a retrospective case series. We describe six infants with unusual congenital vascular tumors. Each lesion presented at birth as a violaceous, atrophic plaque with a surrounding pale halo. The lesions involuted in infancy, fading in color and becoming atrophic, with prominent central veins, similar to RICH in the final stage of regression. The distinctive morphology and behavior suggests that these tumors undergo a life cycle of proliferation and involution during fetal life. We describe a new variant of congenital hemangioma that we refer to as rapidly involuting congenital hemangioma with fetal involution.

  18. Congenital anomalies in the baboon (Papio spp.)

    PubMed Central

    Fox, Benjamin; Owston, Michael A.; Kumar, Shyamesh; Dick, Edward J.

    2011-01-01

    Background A comprehensive survey of the prevalence of congenital anomalies in baboons has not been previously reported. We report the congenital anomalies observed over a 26-year period in a large captive baboon colony. Methods A computer search was performed for all baboon congenital anomalies identified at necropsy and recorded on necropsy submissions. Results We identified 198 congenital anomalies in 166 baboons from 9,972 necropsies (1.66% of total necropsies). The nervous, urogenital, musculoskeletal, and cardiovascular systems were most commonly affected. The most common organs affected were the brain, bone, heart, testicle, kidney, penis, aorta, and skeletal muscle. The most frequent congenital anomalies were blindness, seizures, and hydrocephalus. Conclusions The baboon has an overall frequency of congenital anomalies similar to humans and other nonhuman primates. Although the most frequently affected systems are similar, congenital anomalies involving the digestive system appear to be less common in the baboon. PMID:21332757

  19. 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

  20. CRISPR regulation of intraspecies diversification by limiting IS transposition and intercellular recombination.

    PubMed

    Watanabe, Takayasu; Nozawa, Takashi; Aikawa, Chihiro; Amano, Atsuo; Maruyama, Fumito; Nakagawa, Ichiro

    2013-01-01

    Mobile genetic elements (MGEs) and genetic rearrangement are considered as major driving forces of bacterial diversification. Previous comparative genome analysis of Porphyromonas gingivalis, a pathogen related to periodontitis, implied such an important relationship. As a counterpart system to MGEs, clustered regularly interspaced short palindromic repeats (CRISPRs) in bacteria may be useful for genetic typing. We found that CRISPR typing could be a reasonable alternative to conventional methods for characterizing phylogenetic relationships among 60 highly diverse P. gingivalis isolates. Examination of genetic recombination along with multilocus sequence typing suggests the importance of such events between different isolates. MGEs appear to be strategically located at the breakpoint gaps of complicated genome rearrangements. Of these MGEs, insertion sequences (ISs) were found most frequently. CRISPR analysis identified 2,150 spacers that were clustered into 1,187 unique ones. Most of these spacers exhibited no significant nucleotide similarity to known sequences (97.6%: 1,158/1,187). Surprisingly, CRISPR spacers exhibiting high nucleotide similarity to regions of P. gingivalis genomes including ISs were predominant. The proportion of such spacers to all the unique spacers (1.6%: 19/1,187) was the highest among previous studies, suggesting novel functions for these CRISPRs. These results indicate that P. gingivalis is a bacterium with high intraspecies diversity caused by frequent insertion sequence (IS) transposition, whereas both the introduction of foreign DNA, primarily from other P. gingivalis cells, and IS transposition are limited by CRISPR interference. It is suggested that P. gingivalis CRISPRs could be an important source for understanding the role of CRISPRs in the development of bacterial diversity.

  1. 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

  2. Surgical reconstruction of a congenital foot deformity: hallux varus with brachymetatarsia of the first metatarsal.

    PubMed

    Glickman, S H; Cornfield, R H

    1990-01-01

    A literature review of the etiologies and treatments of both hallux varus and brachymetatarsia is presented. An unusual case report of a young girl with bilateral congenital hallux varus and brachymetatarsia of the first metatarsal is then discussed. A detailed account of the surgical correction consisting of autogenous bone grafts from adjacent metatarsals proved to demonstrate excellent biomechanical and cosmetic results. PMID:2258572

  3. 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

  4. Eyelid switch flap technique for the management of congenital anophthalmos associated with contracted socket.

    PubMed

    Naik, Milind N; Raizada, Kuldeep

    2006-01-01

    Congenital anophthalmos with contracted socket can occasionally present in the second or third decade for cosmetic correction of the deformity. Placement of ocular prosthesis is not possible due to reduced dimensions of the palpebral aperture and contracture of the bony socket. Horizontal widening of the palpebral aperture using an eyelid switch flap technique followed by placement of ocular prosthesis anterior to the hypoplastic orbit achieves good cosmetic correction of this deformity.

  5. Congenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature.

    PubMed

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

    2015-05-01

    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.

  6. Botulinum alignment for congenital esotropia.

    PubMed Central

    Ing, M R

    1992-01-01

    This is the first report of a group of patients with congenital esotropia examined for motor and sensory evidence of binocularity a minimum of 3 years after alignment by botulinum. Evidence for binocularity was clearly present in approximately one half of the patients. Lag time to satisfactory alignment was at least 1 month (average, 5 months) following the initial botulinum injection. The results must be considered preliminary. However, when these results are compared with those of patients with congenital esotropia aligned by incisional surgery by age 2 years and examined with the same testing devices by this same investigator, botulinum alignment appears to be less effective than surgical alignment in establishing evidence for binocularity (P < 0.005). PMID:1494828

  7. Operative treatment of congenital torticollis.

    PubMed

    Shim, J S; Jang, H P

    2008-07-01

    There were 47 patients with congenital muscular torticollis who underwent operative release. After a mean follow-up of 74 months (60 to 90), they were divided into two groups, one aged one to four years (group 1) and the other aged five to 16 years (group 2). The outcomes were assessed by evaluating the following parameters: deficits of lateral flexion and rotation, craniofacial asymmetry, surgical scarring, residual contracture, subjective evaluation and degree of head tilt. The craniofacial asymmetry, residual contracture, subjective evaluation and overall scores were similar in both groups. However, group 2 showed superior results to group 1 in terms of the deficits of movement, surgical scarring and degree of head tilt. It is recommended that operative treatment for congenital muscular torticollis is postponed until the patient can comply successfully with post-operative bracing and an exercise programme.

  8. [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.

  9. 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.

  10. Congenital errors of folate metabolism.

    PubMed

    Zittoun, J

    1995-09-01

    Congenital errors of folate metabolism can be related either to defective transport of folate through various cells or to defective intracellular utilization of folate due to some enzyme deficiencies. Defective transport of folate across the intestine and the blood-brain barrier was reported in the condition 'Congenital Malabsorption of Folate'. This disease is characterized by a severe megaloblastic anaemia of early appearance associated with mental retardation. Anaemia is folate-responsive, but neurological symptoms are only poorly improved because of the inability to maintain adequate levels of folate in the CSF. A familial defect of cellular uptake was described in a family with a high frequency of aplastic anaemia or leukaemia. An isolated defect in folate transport into CSF was identified in a patient suffering from a cerebellar syndrome and pyramidal tract dysfunction. Among enzyme deficiencies, some are well documented, others still putative. Methylenetetrahydrofolate reductase deficiency is the most common. The main clinical findings are neurological signs (mental retardation, seizures, rarely schizophrenic syndromes) or vascular disease, without any haematological abnormality. Low levels of folate in serum, red blood cells and CSF associated with homocystinuria are constant. Methionine synthase deficiency is characterized by a megaloblastic anaemia occurring early in life that is more or less folate-responsive and associated with mental retardation. Glutamate formiminotransferase-cyclodeaminase deficiency is responsible for massive excretion of formiminoglutamic acid but megaloblastic anaemia is not constant. The clinical findings are a more or less severe mental or physical retardation. Dihydrofolate reductase deficiency was reported in three children presenting with a megaloblastic anaemia a few days or weeks after birth, which responded to folinic acid. The possible relationship between congenital disorders such as neural tube defects or

  11. [Congenital heart diseases and sports].

    PubMed

    Martínez Quintana, E; Agredo Muñoz, J; Rodríguez González, F; Nieto Lago, V

    2008-04-01

    Congenital heart diseases are a frequent cause of cardiology consultation. New diagnostic and therapeutic techniques have allowed greater survival and quality of life of patients who wish to participate in sports. What they can do is not always easy to determine. Guidelines are helpful at the time of deciding, although finally is the doctor the one that must determine in each case the situation of the patient and the type of exercise they can do depending on the severity and type of cardiopathy.

  12. Congenital malformations of human dermatoglyphs

    PubMed Central

    David, T. J.

    1973-01-01

    A classification for congenital malformations of dermatoglyphs is presented, dividing them into ridge aplasia, ridge hypoplasia, ridge dissociation, ridges-off-the-end, and a combination of the last two. The medical and genetic significance of these are considered in the light both of previous published cases and of new material. Malformations of dermatoglyphs are important as physical signs in paediatric diagnosis. ImagesFIG. 1FIG. 2FIG. 3FIG. 4FIG. 5FIG. 6FIG. 7 PMID:4693462

  13. Leptin in congenital and HIV-associated lipodystrophy.

    PubMed

    Tsoukas, Michael A; Farr, Olivia M; Mantzoros, Christos S

    2015-01-01

    Leptin is a hormone secreted by adipocytes that regulates energy metabolism via peripheral action on glucose synthesis and utilization as well as through central regulation of food intake. Patients with decreased amounts of fat in their adipose tissue (lipoatrophy) will have low leptin levels, and hypoleptinemic states have been associated with a variety of metabolic dysfunctions. Pronounced complications of insulin resistance, dyslipidemia and fatty liver are observed in patients suffering from congenital or acquired generalized lipodystrophy while somewhat less pronounced abnormalities are associated with human immunodeficiency virus (HIV) and the use of highly active antiretroviral therapy, the so-called HIV-associated lipodystrophy. Previous uncontrolled open-label studies have demonstrated that physiological doses of leptin repletion have corrected many of the metabolic derangements observed in subjects with rare fat maldistribution syndromes such as generalized lipodystrophy. In the much more commonly encountered HIV-associated lipodystrophy, leptin replacement has been shown to decrease central fat mass and to improve insulin sensitivity, dyslipidemia, and glucose levels. The United States Food and Drug Administration has recently granted approval for recombinant leptin therapy for congenital and acquired generalized lipodystrophy, however large, well-designed, placebo-controlled studies are needed to assess long-term efficacy, safety and adverse effects of leptin replacement. In this review, we present the role of leptin in the metabolic complications of congenital and acquired lipodystrophy and discuss current and emerging clinical therapeutic uses of leptin in humans with lipodystrophy.

  14. 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

  15. Pulmonary vascular development goes awry in congenital lung abnormalities.

    PubMed

    Kool, Heleen; Mous, Daphne; Tibboel, Dick; de Klein, Annelies; Rottier, Robbert J

    2014-12-01

    Pulmonary vascular diseases of the newborn comprise a wide range of pathological conditions with developmental abnormalities in the pulmonary vasculature. Clinically, pulmonary arterial hypertension (PH) is characterized by persistent increased resistance of the vasculature and abnormal vascular response. The classification of PH is primarily based on clinical parameters instead of morphology and distinguishes five groups of PH. Congenital lung anomalies, such as alveolar capillary dysplasia (ACD) and PH associated with congenital diaphragmatic hernia (CDH), but also bronchopulmonary dysplasia (BPD), are classified in group three. Clearly, tight and correct regulation of pulmonary vascular development is crucial for normal lung development. Human and animal model systems have increased our knowledge and make it possible to identify and characterize affected pathways and study pivotal genes. Understanding of the normal development of the pulmonary vasculature will give new insights in the origin of the spectrum of rare diseases, such as CDH, ACD, and BPD, which render a significant clinical problem in neonatal intensive care units around the world. In this review, we describe normal pulmonary vascular development, and focus on four diseases of the newborn in which abnormal pulmonary vascular development play a critical role in morbidity and mortality. In the future perspective, we indicate the lines of research that seem to be very promising for elucidating the molecular pathways involved in the origin of congenital pulmonary vascular disease. PMID:25424472

  16. 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

  17. 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.

  18. 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

  19. [Anophthalmia and congenital cataract: case report].

    PubMed

    Santana, Alessandro; Koller, Karine; Waiswol, Mauro

    2005-01-01

    The authors report a case of anophthalmia, congenital cataract and systemic malformations. Male patient, 6 months old, left anophthalmia and congenital posterior polar cataract in the right eye. The patient was treated with manual aspiration of the crystalline lens, with no intraocular lens implantation with primary posterior capsulorhexis and anterior vitrectomy through a small incision. The association of anophthalmia and congenital cataract is rare. The early diagnosis and management in these cases is very important for the best visual rehabilitation.

  20. Congenital generalized terminal hypertrichosis with gingival hyperplasia.

    PubMed

    Guevara-Sanginés, Esther; Villalobos, Alejandra; Vega-Memije, Ma Elisa; Mosqueda-Taylor, Adalberto; Canún-Serrano, Sonia; Lacy-Niebla, Rosa Ma

    2002-01-01

    Congenital generalized terminal hypertrichosis is a rare disease, especially when associated with gingival hyperplasia. Congenital hypertrichosis can be a clinical feature of several syndromes, so these patients must be studied by a multidisciplinary team that should include a dermatologist, geneticist, psychologist, odontologist, and an endocrinologist. We report a 7-year-old girl with congenital generalized hypertrichosis and gingival hyperplasia, and analyze the clinical approach, differential diagnosis, and treatment. PMID:11994171

  1. Congenital infiltrative lipomas in a calf.

    PubMed

    Sickinger, Marlene; Wasieri, Jasmin; Koehler, Kernt; Doll, Klaus; Reinacher, Manfred

    2009-09-01

    The current report describes a case of congenital subcutaneous and intramuscular tumors of the neck and tail base in a 4-week-old female Angus-Charolais crossbred calf. Results of clinical and ultrasound examination are summarized. Biopsy and necropsy findings indicated an infiltrative lipoma. Congenital lipomas are uncommon tumors in bovids. Clinical and morphologic differentials, as well as classification and the possible pathogenesis of congenital neoplasms, are discussed. PMID:19737773

  2. Tn7 transposition in vitro proceeds through an excised transposon intermediate generated by staggered breaks in DNA.

    PubMed

    Bainton, R; Gamas, P; Craig, N L

    1991-05-31

    We have developed a cell-free system in which the bacterial transposon Tn7 inserts at high frequency into its preferred target site in the Escherichia coli chromosome, attTn7; Tn7 transposition in vitro requires ATP and Tn7-encoded proteins. Tn7 transposes via a cut and paste mechanism in which the element is excised from the donor DNA by staggered double-strand breaks and then inserted into attTn7 by the joining of 3' transposon ends to 5' target ends. Neither recombination intermediates nor products are observed in the absence of any protein component or DNA substrate. Thus, we suggest that Tn7 transposition occurs in a nucleoprotein complex containing several proteins and the substrate DNAs and that recognition of attTn7 within this complex provokes strand cleavages at the Tn7 ends.

  3. Brief communication: Additional cases of maxillary canine-first premolar transposition in several prehistoric skeletal assemblages from the Santa Barbara Channel Islands of California.

    PubMed

    Sholts, Sabrina B; Clement, Anna F; Wärmländer, Sebastian K T S

    2010-09-01

    This article identifies and discusses seven new cases of complete maxillary canine-premolar transposition in ancient populations from the Santa Barbara Channel region of California. A high frequency of this tooth transposition has been previously documented within a single prehistoric cemetery on one of the Channel Islands. A total of 966 crania representing 30 local sites and about 7,000 years of human occupation were examined, revealing an abnormally high prevalence of this transposition trait among islanders during the Early period of southern California prehistory ( approximately 5500-600 B.C.). One of the affected crania is from a cemetery more than 7,000-years-old and constitutes the earliest case of tooth transposition in humans so far reported. The results are consistent with findings by other studies that have indicated inbreeding among the early Channel Islands groups. Together with the normal transposition rates among mainland populations, the decreasing prevalence of maxillary canine-first premolar transposition among island populations across the Holocene suggests that inbreeding on the northern Channel Islands had all but ceased by the end of the first millennium B.C., most likely as a result of increased cross-channel migration and interaction.

  4. History of the Congenital Heart Surgeons' Society.

    PubMed

    Mavroudis, Constantine; Williams, William G

    2015-10-01

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

  5. Congenital multiple clustered dermatofibroma and multiple eruptive dermatofibromas - unusual presentations of a common entity*

    PubMed Central

    Pinto-Almeida, Teresa; Caetano, Mónica; Alves, Rosário; Selores, Manuela

    2013-01-01

    Dermatofibroma is one of the most common entities seen in dermatology clinical practice. Several clinical subtypes have nevertheless been described, all of them of uncommon occurrence. The authors present two rare clinical variants of dermatofibromas: congenital multiple clustered dermatofibroma (the presented case is the 4th congenital case to be reported so far) and multiple eruptive dermatofibromas developing in the setting of a Sjögren's syndrome. Since the uncommon subtypes may not be clinically evident, dermatologists should familiarize themselves with their main features and we advise a high level of clinical suspicion in order to reach the correct diagnosis. PMID:24346882

  6. Recanalisation of the closed ductus arteriosus in a critically ill infant with transposition of the great arteries.

    PubMed

    Soo, Kok W; Leong, Ming C; Khalid, Faizah

    2016-02-01

    We describe the case of an infant who was a late presenter of transposition of the great arteries where we proceeded with ductal stenting to improve oxygenation and left ventricle training. Stenting improved the infant's saturation while keeping the left ventricle well trained for 4 months after the procedure. This report demonstrates that intermediate-term left ventricle training can be achieved via ductal stenting.

  7. Counterselection and co-delivery of transposon and transposase functions for Sleeping Beauty-mediated transposition in cultured mammalian cells.

    PubMed

    Converse, Andrea D; Belur, Lalitha R; Gori, Jennifer L; Liu, Geyi; Amaya, Felipe; Aguilar-Cordova, Estuardo; Hackett, Perry B; McIvor, R Scott

    2004-12-01

    Sleeping Beauty (SB) is a gene-insertion system reconstructed from transposon sequences found in teleost fish and is capable of mediating the transposition of DNA sequences from transfected plasmids into the chromosomes of vertebrate cell populations. The SB system consists of a transposon, made up of a gene of interest flanked by transposon inverted repeats, and a source of transposase. Here we carried out a series of studies to further characterize SB-mediated transposition as a tool for gene transfer to chromosomes and ultimately for human gene therapy. Transfection of mouse 3T3 cells, HeLa cells, and human A549 lung carcinoma cells with a transposon containing the neomycin phosphotransferase (NEO) gene resulted in a several-fold increase in drug-resistant colony formation when co-transfected with a plasmid expressing the SB transposase. A transposon containing a methotrexate-resistant dihydrofolate reductase gene was also found to confer an increased frequency of methotrexate-resistant colony formation when co-transfected with SB transposase-encoding plasmid. A plasmid containing a herpes simplex virus thymidine kinase gene as well as a transposon containing a NEO gene was used for counterselection against random recombinants (NEO+TK+) in medium containing G418 plus ganciclovir. Effective counterselection required a recovery period of 5 days after transfection before shifting into medium containing ganciclovir to allow time for transiently expressed thymidine kinase activity to subside in cells not stably transfected. Southern analysis of clonal isolates indicated a shift from random recombination events toward transposition events when clones were isolated in medium containing ganciclovir as well as G418. We found that including both transposon and transposase functions on the same plasmid substantially increased the stable gene transfer frequency in Huh7 human hepatoma cells. The results from these experiments contribute technical and conceptual insight into

  8. 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 ...

  9. 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

  10. 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

  11. 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.

  12. 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

  13. DNA sequence analysis of five genes; tnsA, B, C, D and E, required for Tn7 transposition.

    PubMed Central

    Flores, C; Qadri, M I; Lichtenstein, C

    1990-01-01

    A region of DNA sequence of the bacterial transposon Tn7, which is required for transposition, has been determined. This DNA sequence completes an 8351 base pair (bp) region containing five long open reading frames (ORF's) that correspond to the genetically defined genes, tnsA, B, C, D and E, required for Tn7 transposition. All of the ORF's are oriented in the same direction, ie. inward from the element's right end. The genes are in a very compact arrangement with the presumed initiation codons never more than two bases beyond the preceding termination codon. Domains with similarity to the helix-turn-helix genre of Cro-like, sequence specific DNA binding sites occur within the deduced amino acid (a.a.) sequence of the TnsA, TnsB, TnsD and TnsE proteins. Translation of the tnsC ORF reveals strong homology to a consensus sequence for nucleotide binding sites as well as a region of similarity to a transcriptional activator (MalT). No striking a.a. sequence similarity to other DNA recombinases is observed. The possible roles of these proteins in Tn7 transposition is discussed in light of the analysis presented. PMID:2156235

  14. 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

  15. 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

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

    PubMed

    Hontanilla, Bernardo; Marre, Diego

    2015-12-01

    Incomplete facial paralysis occurs in about a third of patients with Bell's palsy. Although their faces are symmetrical at rest, when they smile they have varying degrees of disfigurement. Currently, cross-face nerve grafting is one of the most useful techniques for reanimation. Transfer of the masseteric nerve, although widely used for complete paralysis, has not to our knowledge been reported for incomplete palsy. Between December 2008 and November 2013, we reanimated the faces of 9 patients (2 men and 7 women) with incomplete unilateral facial paralysis with transposition of the masseteric nerve. Sex, age at operation, cause of paralysis, duration of denervation, recipient nerves used, and duration of follow-up were recorded. Commissural excursion, velocity, and patients' satisfaction were evaluated with the FACIAL CLIMA and a questionnaire, respectively. The mean (SD) age at operation was 39 (±6) years and the duration of denervation was 29 (±19) months. There were no complications that required further intervention. Duration of follow-up ranged from 6-26 months. FACIAL CLIMA showed improvement in both commissural excursion and velocity of more than two thirds in 6 patients, more than one half in 2 patients and less than one half in one. Qualitative evaluation showed a slight or pronounced improvement in 7/9 patients. The masseteric nerve is a reliable alternative for reanimation of the smile in patients with incomplete facial paralysis. Its main advantages include its consistent anatomy, a one-stage operation, and low morbidity at the donor site. PMID:26143295

  17. 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

  18. 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

  19. 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

  20. Tissue culture triggers chromosome alterations, amplification, and transposition of repeat sequences in Allium fistulosum.

    PubMed

    Gernand, Dorota; Golczyk, Hieronim; Rutten, Twan; Ilnicki, Tomasz; Houben, Andreas; Joachimiak, Andrzej J

    2007-05-01

    Structural alterations in nuclei and chromosomes of cells derived from callus culture of Allium fistulosum have been studied with fluorescent in situ hybridization (FISH) using 5S ribosomal DNA (rDNA), 45S rDNA, and 375-bp repeat probes. A high frequency of chromosome abnormalities was found to be caused by the loss of telomere-located 375-bp repeats, chromosome fusion, and subsequent breakage-fusion-bridge cycles. Products of chromosome fusions and monocentric and regularly shaped chromosomes showed additional 375-bp repeat and 45S rDNA clusters at unusual sites, suggesting dynamic copy-number changes and transposition of these repeats. Southern hybridization revealed no differences in the 375-bp repeat and 45S rDNA repeat array order or the degree of methylation between DNA isolated from leaves or tissue-culture cells. In addition, protruding, spike-like structures positive for 375-bp repeats were identified on the surface of different-sized nuclei. Transmission electron microscopy analysis revealed the accumulation of densely packed chromatin within spike-like structures. Because root calyptra cells showed similar structures, it is likely that heterochromatic spike-like structures are a feature of nondividing cells at the onset of programmed cell death. PMID:17612612

  1. 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.

  2. nanos gene control DNA mediates developmentally regulated transposition in the yellow fever mosquito Aedes aegypti.

    PubMed

    Adelman, Zach N; Jasinskiene, Nijole; Onal, Sedef; Juhn, Jennifer; Ashikyan, Aurora; Salampessy, Michael; MacCauley, Todd; James, Anthony A

    2007-06-12

    Transposable elements (TEs) are proposed as a basis for developing drive systems to spread pathogen resistance genes through vector mosquito populations. The use of transcriptional and translational control DNA elements from genes expressed specifically in the insect germ line to mediate transposition offers possibilities for mitigating some of the concerns about transgene behavior in the target vector species and eliminating effects on nontarget organisms. Here, we describe the successful use of the promoter and untranslated regions from the nanos (nos) orthologous gene of the yellow fever mosquito, Aedes aegypti, to control sex- and tissue-specific expression of exogenously derived mariner MosI transposase-encoding DNA. Transgenic mosquitoes expressed transposase mRNA in abundance near or equal to the endogenous nos transcript and exclusively in the female germ cells. In addition, MosI mRNA was deposited in developing oocytes and localized and maintained at the posterior pole during early embryonic development. Importantly, four of five transgenic lines examined were capable of mobilizing a second MosI transgene into the mosquito genome, indicating that functional transposase was being produced. Thus, the nos control sequences show promise as part of a TE-based gene drive system.

  3. 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

  4. Repair of vascular ring with resection of kommerell diverticulum and transposition of aberrant left subclavian artery.

    PubMed

    Samas, John; Manetta, Frank; Meyer, David B

    2013-12-01

    A 32-year-old female presented with dysphagia. Radiographic studies revealed external compression of esophagus by a vascular ring. The anatomy was a right-sided aortic arch with aberrant retroesophageal left subclavian artery, emanating from a large Kommerell diverticulum (KD). Traditional repair with ligamentum division and adhesiolysis leaves a large KD still adjacent to the esophagus with the potential for persistent or recurrent symptoms. The objective of this study was the modification of operative technique to minimize the potential for persistent or recurrent symptoms. The operative repair included resection of KD with transposition of the left subclavian artery into the left carotid artery, in addition to the division of the ligamentum arteriosum and mobilization of the esophagus. The patient's dysphagia resolved and postoperative barium studies showed no residual compression. There were no significant perioperative complications. Resection of KD is a potential adjunct to traditional repair of vascular rings and might offer better long-term palliation by minimizing residual vascular compression of the esophagus.

  5. Repair of Vascular Ring with Resection of Kommerell Diverticulum and Transposition of Aberrant Left Subclavian Artery

    PubMed Central

    Samas, John; Manetta, Frank; Meyer, David B.

    2013-01-01

    A 32-year-old female presented with dysphagia. Radiographic studies revealed external compression of esophagus by a vascular ring. The anatomy was a right-sided aortic arch with aberrant retroesophageal left subclavian artery, emanating from a large Kommerell diverticulum (KD). Traditional repair with ligamentum division and adhesiolysis leaves a large KD still adjacent to the esophagus with the potential for persistent or recurrent symptoms. The objective of this study was the modification of operative technique to minimize the potential for persistent or recurrent symptoms. The operative repair included resection of KD with transposition of the left subclavian artery into the left carotid artery, in addition to the division of the ligamentum arteriosum and mobilization of the esophagus. The patient's dysphagia resolved and postoperative barium studies showed no residual compression. There were no significant perioperative complications. Resection of KD is a potential adjunct to traditional repair of vascular rings and might offer better long-term palliation by minimizing residual vascular compression of the esophagus. PMID:24436620

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

    PubMed

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

    2014-11-01

    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.

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

    PubMed

    Hontanilla, Bernardo; Marre, Diego

    2015-12-01

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

  8. 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.

  9. [Congenital bilateral vocal cord paralysis].

    PubMed

    Meyer, Lars Christian; Godballe, Christian

    2009-01-12

    Congenital bilateral vocal cord paralysis (CBVCP) is a rare but potentially life-threatening condition and awareness of the condition is necessary to ensure early diagnosis and treatment. This case describes a 25-month-old boy suffering from CBVCP. The main symptoms at birth were inspiratory stridor combined with a normal voice and feeding problems. The difficulties in achieving the right diagnosis are demonstrated, and the treatment so far, including tracheotomy and a feeding tube, is outlined. The importance of fibre optic laryngoscopy in both diagnosis and control is stressed. PMID:19174021

  10. 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

  11. Congenital uterine anomalies affecting reproduction.

    PubMed

    Reichman, David E; Laufer, Marc R

    2010-04-01

    The following review seeks to summarise the current data regarding reproductive outcomes associated with congenital uterine anomalies. Such malformations originate from adverse embryologic events ranging from agenesis to lateral and vertical fusion defects. Associated renal anomalies are common both for the symmetric and asymmetric malformations. While fertility is minimally impacted upon by müllerian anomalies in most cases, such malformations have historically been associated with poor obstetric outcomes such as recurrent miscarriage, second trimester loss, preterm delivery, malpresentation and intrauterine foetal demise (IUFD). The following review delineates the existing literature regarding such outcomes and indicates therapies, where applicable, to optimise the care of such patients.

  12. Laboratory Diagnosis of Congenital Toxoplasmosis

    PubMed Central

    Pomares, Christelle

    2016-01-01

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

  13. Laboratory Diagnosis of Congenital Toxoplasmosis.

    PubMed

    Pomares, Christelle; Montoya, Jose G

    2016-10-01

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

  14. Laboratory Diagnosis of Congenital Toxoplasmosis.

    PubMed

    Pomares, Christelle; Montoya, Jose G

    2016-10-01

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

  15. 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

  16. 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.

  17. 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.

  18. 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

  19. Congenital insensitivity to pain with neuroparalytic keratitis.

    PubMed

    Biedner, B; Dagan, M; Gedalia, A; David, R

    1990-08-01

    Congenital insensitivity to pain is a well-defined entity in the group of sensory deficiency syndromes. To the best of our knowledge, unilateral neuroparalytic keratitis associated with congenital insensitivity to pain has not been reported. We report such a case to alert clinicians to this potentially blinding problem.

  20. 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

  1. 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

  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. 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

  4. 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

  5. Congenital toxoplasmosis in premature twins.

    PubMed

    Sibalić, D; Djurković-Djaković, O; Nikolić, R

    1986-01-01

    In the course of the study "Toxoplasmosis and Prematurity" 330 blood samples from twins were examined. Our findings in a series of 21 premature twins (maternal sera were also examined) are reported in this paper. Toxoplasma antibodies were detected by the Sabin-Feldman test and specific IgM antibodies by the Remington test. The classical form of congenital toxoplasmosis was present in five pairs of twins, while toxoplasmosis was subclinical at birth in both twins of three pairs. The pattern of disease varied very much in seven pairs of twins. In one twin of two pairs signs of disease were present, while his cotwin appeared unaffected but with strongly positive result of SFT. The most interesting observation, however, is that in three pairs, one twin was infected and had evident congenital toxoplasmosis, while his cotwin was not, as proven by the disappearance of the Toxoplasma antibodies. This finding undoubtedly indicates the importance of whether the placenta is intact or not for the transmission of the infection.

  6. Congenital dislocation of the knee.

    PubMed

    Ko, J Y; Shih, C H; Wenger, D R

    1999-01-01

    Between February 1988 and June 1995, 24 congenital dislocations of the knee joints (17 patients) were reduced with closed methods including immediate reduction, serial casting, or traction in patients from 10 min to 26 days old. At an average follow-up of 4 years and 10 months, an excellent or good result was achieved if there were no associated anomalies. Fair or poor results were the result of delayed treatment or associated musculoskeletal anomalies including arthrogryposis multiplex congenita or Larsen's syndrome. Routine check of the hip dislocation is suggested. Diagnosis with manual testing was difficult, and other methods such as radiography or sonography were suggested in combination to detect hip dysplasia. The dislocated knee should be reduced before treating the hip dislocation. Concomitant treatment of the congenital dislocation of the knee and the hip with Pavlik harness provided satisfactory results. When late, progressive, genu valgus deformity occurred because of global instability of the knee and asymmetric physeal growth, reconstruction of the medial structures of the knee and prolonged bracing provided good results. PMID:10088699

  7. Congenital Dislocation of the Hip

    PubMed Central

    Specht, Elmer E.

    1976-01-01

    Congenital dislocation or subluxation of the hip (congenital acetabular dysplasia) is a complete or partial displacement of the femoral head out of the acetabulum. The physical signs essential for diagnosis are age related. In newborns the tests for instability are the most sensitive. After the neonatal period, and until the age of walking, tightness of the adductor muscles is the most reliable sign. Early diagnosis is vital for successful treatment of this partially genetically determined condition. Various therapeutic measures, ranging from abduction splinting to open reduction and osteotomy, may be required. Following diagnosis in the first month of life, the average treatment time in one recent series was only 2.3 months from initiation of therapy to attainment of a normal hip. When the diagnosis was not made until 3 to 6 months of age, ten months of treatment was required to achieve the same outcome. When the diagnosis is not made, or the treatment is not begun until after the age of 6, a normal hip will probably not develop in any patient. ImagesFigure 1.Figure 2.Figure 3.Figure 4.Figure 5.Figure 6.Figure 7.Figure 8.Figure 9. PMID:1251603

  8. 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.

  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. 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

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

    PubMed Central

    Aristizabal, Maria J.; Negri, Gian Luca; Kobor, Michael S.

    2015-01-01

    RNA polymerase II (RNAPII) contains a unique C-terminal domain that is composed of heptapeptide repeats and which plays important regulatory roles during gene expression. RNAPII is responsible for the transcription of most protein-coding genes, a subset of non-coding genes, and retrotransposons. Retrotransposon transcription is the first step in their multiplication cycle, given that the RNA intermediate is required for the synthesis of cDNA, the material that is ultimately incorporated into a new genomic location. Retrotransposition can have grave consequences to genome integrity, as integration events can change the gene expression landscape or lead to alteration or loss of genetic information. Given that RNAPII transcribes retrotransposons, we sought to investigate if the RNAPII-CTD played a role in the regulation of retrotransposon gene expression. Importantly, we found that the RNAPII-CTD functioned to maintaining genome integrity through inhibition of retrotransposon gene expression, as reducing CTD length significantly increased expression and transposition rates of Ty1 elements. Mechanistically, the increased Ty1 mRNA levels in the rpb1-CTD11 mutant were partly due to Cdk8-dependent alterations to the RNAPII-CTD phosphorylation status. In addition, Cdk8 alone contributed to Ty1 gene expression regulation by altering the occupancy of the gene-specific transcription factor Ste12. Loss of STE12 and TEC1 suppressed growth phenotypes of the RNAPII-CTD truncation mutant. Collectively, our results implicate Ste12 and Tec1 as general and important contributors to the Cdk8, RNAPII-CTD regulatory circuitry as it relates to the maintenance of genome integrity. PMID:26496706

  12. Functional microRNAs and target sites are created by lineage-specific transposition

    PubMed Central

    Spengler, Ryan M.; Oakley, Clayton K.; Davidson, Beverly L.

    2014-01-01

    Transposable elements (TEs) account for nearly one-half of the sequence content in the human genome, and de novo germline transposition into regulatory or coding sequences of protein-coding genes can cause heritable disorders. TEs are prevalent in and around protein-coding genes, providing an opportunity to impart regulation. Computational studies reveal that microRNA (miRNA) genes and miRNA target sites reside within TE sequences, but there is little experimental evidence supporting a role for TEs in the birth of miRNAs, or as platform for gene regulation by miRNAs. In this work, we validate miRNAs and target sites derived from TE families prevalent in the human genome, including the ancient long interspersed nuclear element 2 (LINE2/L2), mammalian-wide interspersed repeat (MIR) retrotransposons and the primate-specific Alu family. We show that genes with 3′ untranslated region (3′ UTR) MIR elements are enriched for let-7 targets and that these sites are conserved and responsive to let-7 expression. We also demonstrate that 3′ UTR-embedded Alus are a source of miR-24 and miR-122 target sites and that a subset of active genomic Alus provide for de novo target site creation. Finally, we report that although the creation of miRNA genes by Alu elements is relatively uncommon relative to their overall genomic abundance, Alu-derived miR-1285-1 is efficiently processed from its genomic locus and regulates genes with target sites contained within homologous elements. Taken together, our data provide additional evidence for TEs as a source for miRNAs and miRNA target sites, with instances of conservation through the course of mammalian evolution. PMID:24234653

  13. Functional microRNAs and target sites are created by lineage-specific transposition.

    PubMed

    Spengler, Ryan M; Oakley, Clayton K; Davidson, Beverly L

    2014-04-01

    Transposable elements (TEs) account for nearly one-half of the sequence content in the human genome, and de novo germline transposition into regulatory or coding sequences of protein-coding genes can cause heritable disorders. TEs are prevalent in and around protein-coding genes, providing an opportunity to impart regulation. Computational studies reveal that microRNA (miRNA) genes and miRNA target sites reside within TE sequences, but there is little experimental evidence supporting a role for TEs in the birth of miRNAs, or as platform for gene regulation by miRNAs. In this work, we validate miRNAs and target sites derived from TE families prevalent in the human genome, including the ancient long interspersed nuclear element 2 (LINE2/L2), mammalian-wide interspersed repeat (MIR) retrotransposons and the primate-specific Alu family. We show that genes with 3' untranslated region (3' UTR) MIR elements are enriched for let-7 targets and that these sites are conserved and responsive to let-7 expression. We also demonstrate that 3' UTR-embedded Alus are a source of miR-24 and miR-122 target sites and that a subset of active genomic Alus provide for de novo target site creation. Finally, we report that although the creation of miRNA genes by Alu elements is relatively uncommon relative to their overall genomic abundance, Alu-derived miR-1285-1 is efficiently processed from its genomic locus and regulates genes with target sites contained within homologous elements. Taken together, our data provide additional evidence for TEs as a source for miRNAs and miRNA target sites, with instances of conservation through the course of mammalian evolution.

  14. Transposition of the gene encoding a TEM-12 extended-spectrum beta-lactamase.

    PubMed Central

    Heritage, J; Hawkey, P M; Todd, N; Lewis, I J

    1992-01-01

    An isolate of Klebsiella oxytoca from the blood culture of a child with leukemia was found to produce two beta-lactamases, at least one of which conferred resistance to ceftazidime. Genes encoding both enzymes were located on a single self-transmissible 100-kb plasmid, pOZ201. This plasmid was introduced into Escherichia coli UB5201 (pACYC184), and the gene encoding one beta-lactamase was transposed onto plasmid pACYC184 by exploiting a gene dosage effect. The transposable gene was found to encode a TEM-12 enzyme as determined by nucleotide sequencing. This gene was subsequently transposed onto plasmid pUB307. The transposable element encoding the TEM-12 enzyme has been designated Tn841. Both plasmids pACYC184::Tn841 and pUB307::Tn841 were shown to encode a beta-lactamase with the same isoelectric point and substrate profile as the TEM-12 beta-lactamase. Transposon Tn841, at approximately 7 kb, is larger than TnA (4.8 kb) and transposes at a lower frequency. Although it produced a resolvase which can complement the resolvase of Tn3, its transposase function was not able to complement the transposition of a TnA element which lacked transposase. The occurrence of a gene encoding an extended-spectrum beta-lactamase on a transposable element in a clinically significant bacterium is potentially a cause for concern for the spread of resistance to the extended-spectrum cephalosporins. PMID:1329636

  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. 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%.

  17. 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.

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

    PubMed

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

    2015-12-01

    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.

  19. Congenital cholesteatoma of external auditory canal.

    PubMed

    Quantin, Laura; Carrera Fernández, Sandra; Moretti, Jorge

    2002-02-01

    A 7-month-old male child is reported with congenital cholesteatoma of the external auditory canal. We describe the clinical features, computed tomography finding and surgical treatment. Congenital cholesteatomas can occur within the temporal bone. There are six places of location: (1) petrous apex, (2) mastoid, (3) middle ear, (4) both middle ear and mastoid, (5) external ear canal and (6) within the squamous portion of the temporal bone. Congenital cholesteatoma of the external auditory canal is rare. Generally, it appears in the canal floor without lesions in the tympanic membrane. Computed tomography completes the study. Treatment consists of excision of the mass.

  20. Idiopathic congenital chylothorax treated with octreotide

    PubMed Central

    Sousa, Paulo Rego; Leitão, Henrique; Camacho, Maria Carmo; Nunes, José Luis

    2010-01-01

    Idiopathic congenital chylothorax is defined as an abnormal accumulation of lymphatic fluid within the pleural space and is a relatively rare condition. It is a cause of progressive respiratory distress with nutritional and immunological consequences. Treatment of congenital chylothorax has been conservative management and cases unresponsive usually require surgery. We report a case of idiopathic congenital chylothorax treated with octreotide (a somatostatin analogue), avoiding surgery after failed conservative medical treatment. The patient promptly improved after initiation of endovenous octreotide treatment (10 µg/kg/h) with no observed side effects. PMID:22750919

  1. Neonatal sludge: a finding of congenital hypothyroidism.

    PubMed

    Kurtoğlu, Selim; Coban, Dilek; Akın, Mustafa Ali; Akın, Leyla; Yıkılmaz, Ali

    2009-01-01

    Congenital hypothyroidism is one of the most urgent diseases of the neonate. When diagnosed and treated at an early stage, its most important complication, mental retardation, is preventable. The signs of congenital hypothyroidism are nonspecific in neonates. Only 5% of the cases have characteristic clinical findings. One of the most important and earliest signs is prolonged jaundice during the neonatal period. We report herein a case of congenital hypothyroidism, who presented with icterus accompanied with sludge formation into the gallbladder, which disappeared after treatment with L-thyroxine.

  2. Acupuncture Points of the Horse’s Distal Thoracic Limb: A Neuroanatomic Approach to the Transposition of Traditional Points

    PubMed Central

    Lancaster, Lisa S.; Bowker, Robert M.

    2012-01-01

    Simple Summary: Anatomy of the equine foot is not precisely analogous to anatomy of the human hand and foot. Thus acupuncture points transposed from human acupuncture maps may not be functionally similar in the equine digit. Veterinarians strive to select points based on what is currently known about the anatomy and physiology of the equine foot, despite the lack of research evidence to use as guidance. This paper discusses the anatomy and physiology of the horse’s foot and presents a neuroanatomically based modification of some traditional point locations including several newly proposed points. The paper also presents neuroanatomically based clinical suggestions for laminitis treatment. Abstract: Veterinary acupuncture charts were developed based on the concept of transpositional points whereby human acupuncture maps were adapted to animal anatomy. Transpositional acupuncture points have traditionally been placed in specific locations around the horse’s coronet and distal limb believed to be the closest approximation to the human distal limb points. Because the horse has a single digit and lacks several structures analogous to the human hand and foot, precisely transposing all of the human digital points is not anatomically possible. To date there is no published research on the effect of acupuncture treatment of the equine distal limb points. This paper presents a modified approach to equine distal limb point selection based on what is known from research on other species about the neuroanatomic method of acupuncture. A rationale is presented for modification of traditional equine ting points as well as additional points around the hoof and distal limb that do not appear in the standard textbooks of equine acupuncture. The anatomy and physiology of the equine foot likely to be affected by acupuncture are briefly reviewed. Modified neuroanatomic points are proposed that may be more accurate as transpositional points. As an example of clinical application, a

  3. The wing of the enhancer-binding domain of Mu phage transposase is flexible and is essential for efficient transposition.

    PubMed

    Clubb, R T; Mizuuchi, M; Huth, J R; Omichinski, J G; Savilahti, H; Mizuuchi, K; Clore, G M; Gronenborn, A M

    1996-02-01

    A tetramer of the Mu transposase (MuA) pairs the recombination sites, cleaves the donor DNA, and joins these ends to a target DNA by strand transfer. Juxtaposition of the recombination sites is accomplished by the assembly of a stable synaptic complex of MuA protein and Mu DNA. This initial critical step is facilitated by the transient binding of the N-terminal domain of MuA to an enhancer DNA element within the Mu genome (called the internal activation sequence, IAS). Recently we solved the three-dimensional solution structure of the enhancer-binding domain of Mu phage transposase (residues 1-76, MuA76) and proposed a model for its interaction with the IAS element. Site-directed mutagenesis coupled with an in vitro transposition assay has been used to assess the validity of the model. We have identified five residues on the surface of MuA that are crucial for stable synaptic complex formation but dispensable for subsequent events in transposition. These mutations are located in the loop (wing) structure and recognition helix of the MuA76 domain of the transposase and do not seriously perturb the structure of the domain. Furthermore, in order to understand the dynamic behavior of the MuA76 domain prior to stable synaptic complex formation, we have measured heteronuclear 15N relaxation rates for the unbound MuA76 domain. In the DNA free state the backbone atoms of the helix-turn-helix motif are generally immobilized whereas the residues in the wing are highly flexible on the pico- to nanosecond time scale. Together these studies define the surface of MuA required for enhancement of transposition in vitro and suggest that a flexible loop in the MuA protein required for DNA recognition may become structurally ordered only upon DNA binding. PMID:8577730

  4. Congenital epulis of the newborn.

    PubMed

    Kumar, R Mahesh; Bavle, Radhika M; Umashankar, D N; Sharma, Rashi

    2015-01-01

    Congenital epulis, a benign tumor of the oral cavity, is an extremely rare condition in newborn. It may lead to mechanical obstruction, therefore resulting in respiratory distress and difficulty in feeding. Addressing the problem may need a multidisciplinary team approach at the time of birth. Antenatal ultrasonography and perinatal magnetic resonance imaging are an adjunct to treatment planning. Prenatal diagnosis remains difficult as the findings are nonspecific due to the late development of the tumor. Surgical excision is, therefore, the treatment of choice. Our report discusses this condition and the treatment thereafter on a newborn, with an epulis originating from the upper alveolar ridge discovered at birth. Histological examination confirmed the diagnosis of large polygonal granular cells. The mass was excised under general anesthesia, and the outcome was good after surgery allowing regular feeds on the second postoperative day. PMID:26980979

  5. 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

  6. Congenital duplication of the gallbladder.

    PubMed

    Safioleas, Michael C; Papavassiliou, Vassilios G; Moulakakis, Konstantinos G; Angouras, Dimitrios C; Skandalakis, Panagiotis

    2006-03-01

    Duplication of the gallbladder is a rare congenital anomaly of the biliary system. In this article, two cases of gallbladder duplication are presented. The first case is a patient with double gallbladder and concomitant choledocholithiasis. The probable diagnosis of double gallbladder was made preoperatively by computed tomography. The patient underwent a successful open cholecystectomy and common bile duct exploration. In the second case, two cystic formations in the place of gallbladder are demonstrated with ultrasound scan in a woman with acute cholecystitis. At surgery, two gallbladders were found. A brief review of epidemiology and anatomy of double gallbladder is included, along with a discussion of the difficulties in diagnosis and treatment of this condition.

  7. X-linked congenital retinoschisis.

    PubMed

    Kellner, U; Brümmer, S; Foerster, M H; Wessing, A

    1990-01-01

    The natural history and electrophysiological findings of 52 patients with X-linked congenital retinoschisis with a follow-up of up to 26 years are described. The mean visual acuity was reduced to 0.24 +/- 0.2 and remained unchanged in most patients during this time. If visual loss occurred, it usually happened in the first decennium. The complications were retinal detachments in 11% and vitreous hemorrhages in 4% of the eyes. In general, the vitreous hemorrhages resolved spontaneously. Retinal detachments were treated successfully with conventional buckling procedures. Redetachments occurred in about 40%. Prophylactic laser coagulation was of no use because it was complicated by detachment in 43% of our series. The electro-oculogram was usually normal. In addition to the known electrorentinographic findings of normal a-wave and reduced b-wave amplitudes, we found prolonged b-wave latencies and implicit times, as well as a reduced 30 Hz flicker response.

  8. Congenital lateral abdominal wall hernia.

    PubMed

    Montes-Tapia, Fernando; Cura-Esquivel, Idalia; Gutiérrez, Susana; Rodríguez-Balderrama, Isaías; de la O-Cavazos, Manuel

    2016-08-01

    Congenital abdominal wall defects that are located outside of the anterior wall are extremely rare and difficult to classify because there are no well accepted guidelines. There are two regions outside of the anterior wall: the flank or lateral wall; and the lumbar region. We report the case of a patient with an oval 3 cm-diameter hernia defect located above the anterior axillary line, which affects all layers of the muscular wall. An anorectal malformation consisting of a recto-vestibular fistula was also identified, and chest X-ray showed dextrocardia. The suggested treatment is repair of the defect before 1 year of age. Given that the anomalies described may accompany lateral abdominal wall hernia, it is important to diagnose and treat the associated defects.

  9. 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

  10. Management of Congenital Tracheal Stenosis.

    PubMed

    Hofferberth, Sophie C; Watters, Karen; Rahbar, Reza; Fynn-Thompson, Francis

    2015-09-01

    Congenital tracheal stenosis (CTS) is a serious and rare condition. In most cases, stenotic lesions are composed of complete tracheal rings of cartilage.The severity of symptoms correlates with the length of affected trachea, the presence of concomitant respiratory conditions, degree of luminal narrowing,and any bronchial involvement. Critically, CTS is a disorder that can lead to life-threatening respiratory insufficiency in children. Thus, it is a clinical entity that demands timely diagnosis and treatment. This review will firstly discuss the anatomy and pathophysiology of CTS and outline the various clinical presentations associated with the disorder. In addition, methods of diagnosis and treatment strategies will be reviewed, with a focus on contemporary surgical techniques. Finally, postoperative care of patients with CTS will be reviewed, and a contemporary multidisciplinary management approach will be presented.

  11. Congenital epulis of the newborn

    PubMed Central

    Kumar, R Mahesh; Bavle, Radhika M; Umashankar, DN; Sharma, Rashi

    2015-01-01

    Congenital epulis, a benign tumor of the oral cavity, is an extremely rare condition in newborn. It may lead to mechanical obstruction, therefore resulting in respiratory distress and difficulty in feeding. Addressing the problem may need a multidisciplinary team approach at the time of birth. Antenatal ultrasonography and perinatal magnetic resonance imaging are an adjunct to treatment planning. Prenatal diagnosis remains difficult as the findings are nonspecific due to the late development of the tumor. Surgical excision is, therefore, the treatment of choice. Our report discusses this condition and the treatment thereafter on a newborn, with an epulis originating from the upper alveolar ridge discovered at birth. Histological examination confirmed the diagnosis of large polygonal granular cells. The mass was excised under general anesthesia, and the outcome was good after surgery allowing regular feeds on the second postoperative day. PMID:26980979

  12. Mandibular fracture after endosseous implant placement in conjunction with inferior alveolar nerve transposition: a patient treatment report.

    PubMed

    Kan, J Y; Lozada, J L; Boyne, P J; Goodacre, C J; Rungcharassaeng, K

    1997-01-01

    A patient with a severely atrophic right posterior mandible had three endosseous implants placed in conjunction with transposition of the inferior alveolar nerve. Three weeks following implant placement surgery, the patient experienced a spontaneous fracture of the mandible involving the two anterior implants. The two implants were removed, and the fracture was treated with open reduction and fixation with titanium mesh. The fracture healed, and the posterior implant integrated. This report suggests that the buccolingual and superior-inferior position of the mandibular canal can increase the possibility of mandibular fracture by increasing the size of the buccal cortical plate that is removed to expose the nerve during surgery. PMID:9337027

  13. [Dynamic rehabilitation in facial paralysis with the surgical flap and temporalis muscle transposition without muscle lengthening: review and case report].

    PubMed

    Shipkov, Kh; Anastasov, Iu

    2005-01-01

    There are various surgical procedures for the reanimation of patients with long-standing facial paralysis. Temporalis muscle transfer is reliable for the reanimation of long-standing facial paralysis often employed when facial nerve reinnervation. It can be used as well for the immediate treatment of complete facial paralysis (more than 1 year) because temporalis muscle transposition does not interfere with neuronal regeneration. During the last few years the techniques employing the tendon of the temporalis muscle for the rehabilitation of the oral commissure gain increasing importance. The authors analyse the different options for reanimation after facial paralysis and report on a case of facial reanimation via temporalis muscle transfer.

  14. Orthodontic management of bilateral maxillary canine-first premolar transposition and bilateral agenesis of maxillary lateral incisors: a case report

    PubMed Central

    Palma, Elena Di; Giuseppe, Biagio Di; Tepedino, Michele; Chimenti, Claudio

    2015-01-01

    INTRODUCTION: Maxillary canine-first premolar transposition (Mx.C.P1) is an uncommon dental positional anomaly that may create many orthodontic problems from both esthetic and functional points of view. OBJECTIVE: In this report we show the orthodontic management of a case of Mx.C.P1 associated with bilateral maxillary lateral incisor agenesis and unilateral mandibular second premolar agenesis METHODS: The patient was treated with a multibracket appliance and the extraction of the lower premolar. RESULTS: treatment was completed without the need for any prosthetic replacement. PMID:25992994

  15. Congenital cystic eye with multiple dermal appendages and intracranial congenital anomalies.

    PubMed

    Tsitouridis, Ioannis; Michaelides, Michael; Tsantiridis, Christos; Spyridi, Styliani; Arvanity, Mary; Efstratiou, Ioannis

    2010-06-01

    Congenital cystic eye (anophthalmia with cyst) is an extremely rare anomaly discovered at birth with few reported cases in the literature, resulting from partial or complete failure during invagination of the primary optic vesicle during fetal development. Herein we present the radiographic, ultrasound, and magnetic resonance imaging findings of a unique case of congenital cystic eye associated with dermal appendages and advanced intracranial congenital anomalies in a 3-month-old boy.

  16. Follow-up and physical activity in postoperative congenital heart disease.

    PubMed

    Colonna, Pierluigi; Manfrin, Marcello; Cecconi, Moreno; Perna, Gian Piero; Picchio, Fernando Maria

    2007-01-01

    During the past three decades, interventional cardiology and cardiac surgery have found solutions even for the most complex congenital heart malformations with an overall low operative mortality. A careful clinical and instrumental follow-up of postoperative congenital heart disease patients is fundamental not only to prevent complications and/or to treat eventual residua and sequelae, but also to modify future surgical strategies on the basis of long-term results. To be able to give a correct prognostic meaning to the data collected during the follow-up, the cardiologist should have an excellent knowledge of the native defect, the surgical technique and the post-surgical anatomy and physiology. Major cardiological concerns during a follow-up after corrective surgery are: arrhythmias; heart failure; cyanosis and erythrocytosis; and infective endocarditis. Psychosocial needs, such as employment, contraception, pregnancy and physical exercise, are very important to enable a 'normal' life, complying with the postoperative hemodynamic situation of the patients.

  17. Differentiating between Traumatic Pathology and Congenital Variant: A Case Report of Butterfly Vertebra

    PubMed Central

    Karargyris, Orestis; Morassi, Lampros-Guiseppe; Stathopoulos, Ioannis P.; Chatziioannou, Sofia N.; Pneumaticos, Spyros G.

    2015-01-01

    Butterfly vertebra is a rare congenital malformation of the spine, which is usually reported in the literature as an isolated finding. We describe a 40-year-old woman that presented to our emergency department with back pain and sciatica. Initial radiological evaluation revealed an incidental finding of a L4 butterfly vertebra in the anteroposterior and lateral view radiographs. The patient presented with no neurological deficit. This rare congenital anomaly is usually asymptomatic, and awareness of its non-traumatic nature is critical in order to establish a correct diagnosis. Further evaluation of the patient is necessary to exclude pathologic fracture, infection, or associated vertebral anomalies and syndromes, such as Alagille, Jarcho-Levin, Crouzon, and Pfeiffer syndromes. Furthermore, in the emergency setting, awareness of this entity is needed so that a correct diagnosis can be established. PMID:26330967

  18. [Congenital heart disease in adults: residua, sequelae, and complications of cardiac defects repaired at an early age].

    PubMed

    Oliver Ruiz, José María

    2003-01-01

    Nowadays, it is estimated that 85% of the infants born with congenital heart disease (CHD) will survive to adulthood, thanks mainly to surgical or therapeutic procedures performed during infancy or childhood. The clinical profile and disease pattern of adults with CHD is changing. The prevalence of certain adult CHDs, such as tetralogy of Fallot, transposition of the great arteries or univentricular heart, is rising, but these conditions have practically become new diseases as a result of therapy. Most surviving patients present residua, sequelae, or complications, which can progress during adult life. These disorders can present electrophysiological disturbances, valvular disease, persistent shunts, myocardial dysfunction, pulmonary or systemic vascular disease, problems caused by prosthetic materials, infectious complications, thromboembolic events, or extravascular disorders involving multiple organs or systems. In tetralogy of Fallot, the most striking problems that affect long-term prognosis are pulmonary valve regurgitation, right ventricle dysfunction, and atrial or ventricular arrhythmias. The main problems appearing after physiological atrial repair of transposition of the great arteries are related to right ventricular function, since it is structurally unprepared for systemic circulation, and atrial arrhythmias. Surgical repair of univentricular heart using Fontan techniques should be considered a palliative procedure that does not modify the underlying structural disorder and exposes the postoperative patient to severe complications and problems. The increase in the number of patients with CHD who will reach adulthood in the coming decades makes it necessary to carefully consider the new healthcare demands that are being generated, who should be responsible for them, and how and where solutions can be found.

  19. Increase in IS256 transposition in invasive vancomycin heteroresistant Staphylococcus aureus isolate belonging to ST100 and its derived VISA mutants.

    PubMed

    Di Gregorio, Sabrina; Fernandez, Silvina; Perazzi, Beatriz; Bello, Natalia; Famiglietti, Angela; Mollerach, Marta

    2016-09-01

    In Staphylococcus aureus, transposition of IS256 has been described to play an important role in biofilm formation and antibiotic resistance. This study describes the molecular characterization of two clinical heterogeneous vancomycin-intermediate S. aureus (hVISA) isolates recovered from the same patient (before and after antibiotic treatment) and two VISA derivatives obtained by serial passages in the presence of vancomycin. Our results showed that antibiotic treatment (in vivo and in vitro) could enhance IS256 transposition, being responsible for the eventual loss of agr function. As far as we know this is the first study that reports the increase of IS256 transposition in isogenic strains after antibiotic treatment in a clinical setting.

  20. 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.

  1. 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

  2. An uncommon congenital anomaly of the ribs

    PubMed Central

    Padmanabhan, Arjun; Zunimol, Mohamed Puthiyaveettil

    2016-01-01

    Intrathoracic rib is an extremely rare congenital anomaly of the ribs. Here, we present the case of a 10-year-old boy with asthma who, on routine evaluation, was found to have this anomaly. PMID:27051123

  3. Congenital lung lesions: Postnatal management and outcome.

    PubMed

    Parikh, Dakshesh H; Rasiah, Shree Vishna

    2015-08-01

    Antenatal diagnosis of lung lesion has become more accurate resulting in dilemma and controversies of its antenatal and postnatal management. Majority of antenatally diagnosed congenital lung lesions are asymptomatic in the neonatal age group. Large lung lesions cause respiratory compromise and inevitably require urgent investigations and surgery. The congenital lung lesion presenting with hydrops requires careful postnatal management of lung hypoplasia and persistent pulmonary hypertension. Preoperative stabilization with gentle ventilation with permissive hypercapnia and delayed surgery similar to congenital diaphragmatic hernia management has been shown to result in good outcome. The diagnostic investigations and surgical management of the asymptomatic lung lesions remain controversial. Postnatal management and outcome of congenital cystic lung lesions are discussed. PMID:26051048

  4. 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

  5. Pregnancy and adult congenital heart disease.

    PubMed

    Karamermer, Yusuf; Roos-Hesselink, Jolien W

    2007-09-01

    Increasing numbers of women with complex congenital heart disease are reaching childbearing age. Pregnancy is a major issue in the management of adult congenital heart disease. Cardiac disease is one of the most common causes of maternal morbidity and mortality. Complications, such as growth retardation, preterm and premature birth and even fetal and neonatal mortality, are more frequent among children of women with congenital heart disease. The risk of complications is determined by the severity of the cardiac lesion, the presence of cyanosis, the maternal functional class and the use of anticoagulation. However, the pathophysiology of these complications is not completely understood and may be related to a diminished increase in cardiac output and/or endothelial dysfunction. The management of pregnant cardiac patients is based on limited clinical information. This article reviews pre-pregnancy counseling and management during pregnancy in patients with congenital heart disease.

  6. 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 ...

  7. 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 ...

  8. 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

  9. 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 ...

  10. 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 ...

  11. 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 ...

  12. 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 ...

  13. 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)

  14. 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 ...

  15. 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

  16. 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 ...

  17. Interventional treatment of congenital heart disease patients.

    PubMed

    Marini, D; Agnoletti, G

    2010-02-01

    During the last 10 years the interventional treatment of congenital and structural heart diseases has known enormous changes in techniques, methods and patients management. Lesions previously treated surgically are now approached in the catheterization laboratory. The advent of multidisciplinary approach of congenital heart disease has made possible the development of hybrid techniques, of fetal medicine and of magnetic resonance imaging (MRI)- guided cardiac catheterization. Technological innovation has introduced new concepts in treatment of congenital heart disease patients and has allowed to adapt different techniques to single patients. The knowledge of the evolution of structural heart disease has allowed to chose the best percutaneous and/ or surgical technique and the best materials to optimize long term results. Improvement in non invasive imaging modality has allowed to diminish the radiation exposure and to provide useful information to interventional cardiologists and cardiac surgeons. Absorbable, drug eluting tools will change the treatment and probably the natural history of congenital and structural cardiac and vascular diseases.

  18. Congenital hemangiopericytoma: two cases of familiar presentation.

    PubMed

    Margarit, J; Rodó, J; Costa, J M; Vives, E; Escorihuela, F; Cardesa, A; Ribalta, T

    1997-08-01

    We report two cases of congenital hemangiopericytoma localized in the abdominal wall in the first patient and scalp in the second. The treatment of both cases consisted in the complete resection of the tumor mass. Four and two years later the patients remain asymptomatic. The special interest in this case report lies in the extremely low incidence of congenital hemangiopericytoma and that this is the first reference to affected siblings.

  19. 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

  20. Analysis of a large cluster of nonessential genes deleted from a vaccinia virus terminal transposition mutant.

    PubMed

    Kotwal, G J; Moss, B

    1988-12-01

    The principal objectives of this study were to analyze the structure and coding potential of a long segment of DNA missing from a previously isolated (B. Moss, E. Winters, and J. A. Cooper (1981) J. Virol. 40, 387-395) attenuated variant of vaccinia virus strain WR and to examine the precise changes in the genome accompanying the deletion. The sequences of a 14.5-kbp region located at the left end of the standard vaccinia virus genome, extending from within the inverted terminal repetition (ITR) of the HindIII C fragment to the end of the HindIII N fragment, and of a 3-kbp segment from a corresponding region of the variant genome were determined. A comparison of these sequences revealed that the variant contained a deletion of 12 kbp and an insertion of 2.1 kbp. The origin of the inserted DNA was traced to the HindIII B region by using oligonucleotide probes indicating that a transposition of unique DNA located adjacent to the right ITR had occurred. Structural analysis indicated no extensive homologies, nucleotide substitutions, additions, or deletions at the boundaries of the transposed DNA. Examination of the right end of the variant genome indicated that a copy of the transposed DNA was still present and, therefore, the length of the ITR had been increased by 2.1 kbp. The variant genome could have formed by a mechanism that resulted in the replacement of a 22-kbp left-terminal fragment with a 12-kbp right-terminal fragment. The DNA missing from the variant and contained within the standard vaccinia virus WR genome contains 17 contiguous open reading frames (ORFs), all of which are directed leftward and apparently not required for replication in cultured cells. One deleted ORF has a 60% sequence similarity to another gene encoding a 42,000-Da protein present within the ITR suggesting that duplications have previously occurred during the evolution of vaccinia virus. Another deleted ORF has a 39% sequence similarity to a complement 4b binding protein. The

  1. Congenital Kyphoscoliosis in Monozygotic Twins: Ten-Year Follow-up Treated by Posterior Vertebral Column Resection (PVCR)

    PubMed Central

    Chang, Dong-Gune; Yang, Jae Hyuk; Lee, Jung-Hee; Kim, Young-Hoon; Kim, Jin-Hyok; Suh, Seung-Woo; Ha, Kee-Yong; Suk, Se-Il

    2016-01-01

    Abstract The etiology of congenital scoliosis and its development remains unclear and has not yet been fully identified, even there are theories that congenital scoliosis could be derived from the failure of formation or failure of segmentation, which are etiologically heterogeneous with genetic, epigenetic, and environmental factors contributing to their occurrence. We reported a case of long-term follow-up after posterior vertebral column resection (PVCR) in both identical twins with similar congenital kyphoscoliosis at thoracolumbar levels. Twin I had been noticed by his parents to have asymmetry of his back at age 5 years, but no treatment was given. Twin II was first noticed to have a spinal problem at 11 years of age by his parents. Overtime, spine of both twins became further deviated to the left with kyphosis and was referred to our hospital. Both monozygotic twins were treated by PVCR and satisfactory results were demonstrated at 10-year follow-up. This case is the first report on the surgical treatment with PVCR, almost simultaneously, in both identical twins who had similar congenital vertebral anomalies causing kyphoscoliosis. Both identical twins with congenital kyphoscoliosis had undergone surgical correction by PVCR, anterior support with a mesh cage and posterior fusion using pedicle screws at the age of 14 years and achieved a satisfactory correction and a stable spine without curve progression with 10-year follow-up. PMID:27124052

  2. EXPERIENCE OF TREATMENT OF CONGENITAL DIAPHRAGMATIC HERNIA AMONG BABIES.

    PubMed

    Savvina, V A; Tarasov, A Yu; Varfolomeyev, A R; Nikolaev, V N; Petrova, N e; Emeliynova, Z E; Grigoriev, V A; Sleptsov, A A

    2015-01-01

    The article presents our experience of treatment of congenital diaphrogmatic hernia at newborns and hernia of an esophageal opening of a diaphragm among children of early age. Since 2010 surgical tactics has been changed: the prolonged preoperative preparation with use of the device of high-frequency ventilation of lungs, correction of symptoms of pulmonary hypertensia is carried out, operation is carried out according to plan after stabilization of the patient in parameters of oxygenation and an acid-base state, operative treatment is executed by method of low-invasive endosurgery. Over the last 5 years 25 children with good functional and cosmetic results have been operated. The lethality in the case of congenital diaphragmatic hernia at newborns decreased to 12%, it was noted generally among patients with the expressed hypoplasia of lungs which died during preoperative preparation. In recent years we place emphasis on antenatal diagnosis of pathology and prenatal diagnostics of degree of a hypoplasia of a lung on indicators of a pulmonary and head index at a fetus. It wasn't noted a postoperative lethality. PMID:26887143

  3. [Development of the iridocorneal angle and congenital glaucoma].

    PubMed

    Tamm, E R

    2011-07-01

    The trabecular meshwork originates from cells of the neural crest which migrate to the iridocorneal angle during embryonic and fetal development of the eye. Correct morphogenesis of trabecular outflow pathways requires the differentiation of the cells to a porous and lamellate meshwork as well as the ingrowth of Schlemm's canal and posterior movement of the iris root. A failure in these processes is responsible for primary congenital or infantile glaucoma which presents with increased resistance to aqueous humor outflow resulting in increased intraocular pressure. Most cases appear to be of a sporadic nature but hereditary cases are often caused by mutations in the CYP1B1 gene which encodes for the enzyme cytochrome P450 1B1. Mutations cause a reduction in enzymatic activity which probably leads to diminished turnover of an as yet unidentified metabolite taking part in the signaling processes essential for formation of the trabecular meshwork and Schlemm's canal. More rarely, mutations in latent transforming growth factor beta binding protein 2 (LTBP2) or in the transcription factor FOXC1 have been described as causative for primary congenital glaucoma.

  4. Transcatheter coil embolization of multiple bilateral congenital coronary artery fistulae.

    PubMed

    Iglesias, Juan F; Thai, Hoa Tran; Kabir, Tito; Roguelov, Christan; Eeckhout, Eric

    2010-03-01

    Coronary artery fistulae represent the most frequent congenital anomalies of the coronary arteries, but remain a relatively uncommon clinical problem. Moreover, multiple fistulae originating from both the left and the right coronary arteries and draining into the left ventricular chamber are a rare condition. Due to the low prevalence of these anomalies, the appropriate management of patients with symptomatic coronary artery fistulae is controversial. Transcatheter closure approaches have emerged as a less invasive strategy and are nowadays considered a valuable alternative to surgical correction with similar effectiveness, morbidity and mortality. The percutaneous management, however, is mainly limited by the individual anatomic features of the fistula and an appropriate patient's selection is considered as a key determining factor to achieve complete occlusion. Thus, success rates of transcatheter closure techniques reported in the literature are extremely variable and highly dependent upon the nature of the follow up, which, at present, is not standardized. The optimal management of symptomatic patients with multiple coronary artery fistulae still remains a challenging problem and has been traditionally considered as an indication for cardiac surgery. We report here the case of a patient with double bilateral congenital coronary artery fistulae arising from both the left and right coronary arteries and draining individually into the left ventricular chamber. This patient underwent successful transcatheter anterograde closure of both fistulae using a microcoil embolization technique.

  5. Sphingolipids in Congenital Diaphragmatic Hernia; Results from an International Multicenter Study

    PubMed Central

    Snoek, Kitty G.; Reiss, Irwin K. M.; Tibboel, Jeroen; van Rosmalen, Joost; Capolupo, Irma; van Heijst, Arno; Schaible, Thomas; Post, Martin; Tibboel, Dick

    2016-01-01

    Background Congenital diaphragmatic hernia is a severe congenital anomaly with significant mortality and morbidity, for instance chronic lung disease. Sphingolipids have shown to be involved in lung injury, but their role in the pathophysiology of chronic lung disease has not been explored. We hypothesized that sphingolipid profiles in tracheal aspirates could play a role in predicting the mortality/ development of chronic lung disease in congenital diaphragmatic hernia patients. Furthermore, we hypothesized that sphingolipid profiles differ between ventilation modes; conventional mechanical ventilation versus high-frequency oscillation. Methods Sphingolipid levels in tracheal aspirates were determined at days 1, 3, 7 and 14 in 72 neonates with congenital diaphragmatic hernia, born after > 34 weeks gestation at four high-volume congenital diaphragmatic hernia centers. Data were collected within a multicenter trial of initial ventilation strategy (NTR 1310). Results 36 patients (50.0%) died or developed chronic lung disease, 34 patients (47.2%) by stratification were initially ventilated by conventional mechanical ventilation and 38 patients (52.8%) by high-frequency oscillation. Multivariable logistic regression analysis with correction for side of the defect, liver position and observed-to-expected lung-to-head ratio, showed that none of the changes in sphingolipid levels were significantly associated with mortality /development of chronic lung disease. At day 14, long-chain ceramides 18:1 and 24:0 were significantly elevated in patients initially ventilated by conventional mechanical ventilation compared to high-frequency oscillation. Conclusions We could not detect significant differences in temporal sphingolipid levels in congenital diaphragmatic hernia infants with mortality/development of chronic lung disease versus survivors without development of CLD. Elevated levels of ceramides 18:1 and 24:0 in the conventional mechanical ventilation group when compared

  6. High-frequency intracellular transposition of a defective mammalian provirus detected by an in situ colorimetric assay.

    PubMed Central

    Tchenio, T; Heidmann, T

    1992-01-01

    We devised an indicator gene for retrotransposition, nlsLacZRT, which contains the Escherichia coli lacZ gene fused to a nuclear location signal (nlsLacZ), engineered in such a way that the gene is expressed only if the structure in which it has been inserted transposes itself through an RNA intermediate. A cloned murine leukemia retrovirus with an ecotropic host range (Moloney murine leukemia virus), rendered defective by a large deletion encompassing the three viral gag, pol, and env open reading frames, was marked with this indicator gene and introduced by transfection into heterologous feline cells. No beta-galactosidase activity could be detected among the clonal cell population, unless the defective provirus was complemented in trans by the gag-pol gene products. Under these conditions, cell variants which disclosed an easily detectable nuclear blue coloration upon in situ 5-bromo-4-chloro-3-indolyl-beta-D-galactopyranoside staining were observed. Fluorescence-activated cell sorting of the beta-galactosidase-positive cells, followed by Southern blot analysis, demonstrated an unambiguous correlation between nlsLacZRT activation and retrotransposition of the marked provirus. Transposition occurs at a high frequency (up to 10(-4) events per cell per generation), which is dependent on the level of expression of the gag-pol gene and is concomitant with the release of noninfectious retroviruslike particles which are the hallmarks, but not the intermediates, of the intracellular transposition process. Images PMID:1371167

  7. Interaction of the Tn7-encoded transposition protein TnsB with the ends of the transposon.

    PubMed Central

    Arciszewska, L K; Craig, N L

    1991-01-01

    We have used several high resolution methods to examine the interaction of TnsB, a transposition protein encoded by the bacterial transposon Tn7, with its binding sites at the ends of the transposon. These binding sites lie within the DNA segments that are directly involved in transposition. We show that the binding of TnsB to DNA can promote DNA bending, suggesting that the interaction of TnsB with the ends may result in formation of a highly organized protein-DNA complex. We also identify likely positions of close contact between of TnsB and its binding sites. Analysis of the interaction of TnsB with intact Tn7 ends reveals TnsB occupies its binding sites in a particular order, the sites immediately adjacent to the transposon termini being occupied only after other inner sites are bound. Such ordered occupancy suggests that the various binding sites have differing apparent affinities for TnsB. Images PMID:1656385

  8. Medial transposition of split lateral rectus augmented with fixation sutures in cases of complete third nerve palsy.

    PubMed

    Saxena, Rohit; Sharma, Medha; Singh, Digvijay; Dhiman, Rebika; Sharma, Pradeep

    2016-05-01

    Surgical management of complete third nerve paralysis is a challenge. While several techniques have been described over the years, they result in less than satisfactory outcomes with residual deviations in primary gaze or postoperative drifts. One of the described techniques for management of oculomotor palsy has been medial transposition of the lateral rectus muscle which provides a good surgical alternative but often can result in undercorrection. We describe a modification of the existing technique of medial transposition of the split lateral rectus by force augmentation through the use of equatorial fixation sutures resulting in an improved outcome in primary gaze alignment. The modified technique involves splitting of the lateral rectus into two halves followed by transposing the superior half from below the superior oblique and superior rectus and inferior half from below the inferior oblique and inferior rectus to attach them at the superior and inferior edge of the medial rectus insertion, respectively. This is followed by placing non-absorbable sutures to fix each split belly of the transposed muscles to the sclera at the equator adjacent to the medial rectus such that the split muscles lie nearly parallel to the medial rectus till the equator before reflecting away. These sutures augment the force of the transposed muscles by redirecting the force vectors in the direction of action of the medial rectus. Satisfactory postoperative primary gaze alignment was achieved in three cases of complete third nerve paralysis.

  9. Infraorbital nerve transpositioning into orbital floor: a modified technique to minimize nerve injury following zygomaticomaxillary complex fractures

    PubMed Central

    Kotrashetti, Sharadindu Mahadevappa; Kale, Tejraj Pundalik; Bhandage, Supriya

    2015-01-01

    Objectives Transpositioning of the inferior alveolar nerve to prevent injury in lower jaw has been advocated for orthognathic, pre-prosthetic and for implant placement procedures. However, the concept of infra-orbital nerve repositioning in cases of mid-face fractures remains unexplored. The infraorbital nerve may be involved in trauma to the zygomatic complex which often results in sensory disturbance of the area innervated by it. Ten patients with infraorbital nerve entrapment were treated in similar way at our maxillofacial surgery centre. Materials and Methods In this article we are reporting three cases of zygomatico-maxillary complex fracture in which intra-operative repositioning of infra-orbital nerve into the orbital floor was done. This was done to release the nerve from fractured segments and to reduce the postoperative neural complications, to gain better access to fracture site and ease in plate fixation. This procedure also decompresses the nerve which releases it off the soft tissue entrapment caused due to trauma and the organized clot at the fractured site. Results There was no evidence of sensory disturbance during their three month follow-up in any of the patient. Conclusion Infraorbital nerve transposition is very effective in preventing paresthesia in patients which fracture line involving the infraorbital nerve. PMID:25922818

  10. Heterogeneous constrictional deformation in a ductile shear zone resulting from the transposition of a lineation-parallel fold

    NASA Astrophysics Data System (ADS)

    Xypolias, P.; Chatzaras, V.; Beane, R.; Papadopoulou, S.

    2013-07-01

    We use new (micro-)structural, petrofabric, strain and vorticity data to analyze the deformation path in a mesoscopic quartz mylonite zone. The mylonite zone resulted from the complete transposition of a stretching lineation-parallel isoclinal fold. Symmetric cleft-girdle quartz c-axis fabrics were recorded in the middle domain, which occupies the inner limbs of the precursor isoclinal fold, while asymmetric cleft- and crossed-girdle fabrics were observed in the upper and lower domains that represent the outer limbs. Constrictional strain, with increasing k values towards the middle domain, is inferred from petrofabric and 3D strain data. Oblique grain shape fabrics yield vorticity estimates of 0.72-0.90 in the zone. However, in the middle domain, pure shear dominated deformation is suggested by orthorhombic crystallographic fabrics. Strain rate is constant throughout the zone; a strain decrease towards the zone center implies that deformation ceased earlier in the middle domain. The data indicates that fold transposition and subsequent mylonitization started as pure-shear-dominated constrictional deformation and progressively changed to simple-shear-dominated, plane strain. During this flow path the asymmetric quartz c-axis fabrics likely developed by depopulation of cleft-girdle maxima rather than from the synthetic rotation of fabric maxima itself.

  11. Cubital compressive neuropathy in the elbow: in situ neurolysis versus anterior transposition – comparative study☆☆☆

    PubMed Central

    Sousa, Marco; Aido, Ricardo; Trigueiros, Miguel; Lemos, Rui; Silva, César

    2014-01-01

    Objective To compare the results from two of the most commonly used surgical techniques: in situ decompression and subcutaneous transposition. The processes of patients treated surgically in a public university hospital between January 2004 and December 2011 were reviewed. Cases of proximal compression of the nerve, angular deformity of the elbow and systemic diseases associated with non-compressive neuropathy were excluded. Methods Ninety-seven cases were included (96 patients). According to the modified McGowan score, 14.4% of the patients presented grade Ia, 27.8% grade II, 26.8% grade IIb and 30.9% grade III. In situ neurolysis of the cubital was performed in 64 cases and subcutaneous anterior transposition in 33. Results According to the modified Wilson and Knout score, the results were excellent in 49.5%, good in 18.6%, only satisfactory in 17.5% and poor in 14.4%. In comparing the two techniques, we observed similar numbers of excellent and good results. Grades IIb and III were associated with more results that were less satisfactory or poor, independent of the surgical technique. Conclusion Both techniques were shown to be efficient and safe for treating cubital tunnel syndrome. PMID:26229876

  12. Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

    PubMed Central

    2012-01-01

    Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology. PMID:22731118

  13. Understanding and treating pulmonary hypertension in congenital diaphragmatic hernia.

    PubMed

    Pierro, M; Thébaud, B

    2014-12-01

    Lung hypoplasia and pulmonary hypertension are classical features of congenital diaphragmatic hernia (CDH) and represent the main determinants of survival. The mechanisms leading to pulmonary hypertension in this malformation are still poorly understood, but may combine altered vasoreactivity, pulmonary artery remodeling, and a hypoplastic pulmonary vascular bed. Efforts have been directed at correcting the "reversible" component of pulmonary hypertension of CDH. However, pulmonary hypertension in CDH is often refractory to pulmonary vasodilators. A new emerging pattern of late (months after birth) and chronic (months to years after birth) pulmonary hypertension are described in CDH survivors. The true incidence and implications for outcome and management need to be confirmed by follow-up studies from referral centers with high patient output. In order to develop more efficient strategies to treat pulmonary hypertension and improve survival in most severe cases, the ultimate therapeutic goal would be to promote lung and vascular growth. PMID:25456753

  14. [Congenital muscular dystrophies in children].

    PubMed

    Scavone-Mauro, Cristina; Barros, Graciela

    2013-09-01

    From the clinical and genetic point of view, congenital muscular dystrophies (CMD) are a heterogenic group of diseases within neuromuscular pathologies. The best known forms are: merosin deficiency CMD, collagen VI deficiency CMD, LMNA-related CMD, selenoprotein-related CMD (SEPN1) and alpha-dystroglycan-related CMD. They present with a broad spectrum of clinical phenotypes. Most of them are transmitted by recessive autosomal inheritance. The initial manifestations very often begin in infancy or in the neonatal period. There are clinical suspicions of the existence of hypotonia and paresis, and they are characterised by a dystrophic pattern in the muscular biopsy (muscle replaced by fibroadipose tissue, with necrosis and cell regeneration). Advances in the understanding of the molecular pathogenesis of CMD have made it possible to make further progress in the classification of the different subtypes. The aim of this review is to comment on the advances made in recent years as regards the classification of CMD in terms of genetics, the proteins involved and their clinical presentation.

  15. Diagnosis of congenital fibrinogen disorders.

    PubMed

    Lebreton, Aurélien; Casini, Alessandro

    2016-08-01

    Congenital fibrinogen disorders comprise quantitative disorders defined by a complete absence (afibrinogenemia) or by a decreased level (hypofibrinogenemia) of circulating fibrinogen and qualitative disorders characterized by a discrepancy between the activity and the antigenic levels of fibrinogen (dysfibrinogenemia and hypodysfibrinogenemia). The biological diagnosis is based on a standard haemostasis assessment. All the coagulation tests that depend on the formation of fibrin as the end point are affected; although in dysfibrinogenemia the specificity and sensitivity of routine test depend on reagent and techniques. A genetic exploration permits to confirm the diagnosis and may enhance the prediction of the patient's phenotype. Homozygous or composite heterozygous null mutations are most often responsible for afibrinogenemia while hypofibrinogenemic patients are mainly heterozygous carrier of an afibrinogenemic allele. Heterozygous missense mutations are prevalent in dysfibrinogenemia, with two hot spot localized in exon 2 of the FGA and in the exon 8 of the FGG. The correlation between phenotype and genotype has been identified in some fibrinogen variants, including six mutations clustered in exons 8 and 9 of the FGG leading to hypofibrinogenemia with hepatic inclusions of abnormal fibrinogen aggregates as well as a few mutations associated with an increase risk of thrombotic events. A familial screening and additional functional assays should be carried out when possible.

  16. 77 FR 72199 - Technical Corrections; Correction

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-12-05

    ...) is correcting a final rule that was published in the Federal Register on July 6, 2012 (77 FR 39899), and effective on August 6, 2012. That final rule amended the NRC regulations to make technical... COMMISSION 10 CFR Part 171 RIN 3150-AJ16 Technical Corrections; Correction AGENCY: Nuclear...

  17. Symptoms of autism among children with congenital deafblindness.

    PubMed

    Dammeyer, Jesper

    2014-05-01

    Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism. PMID:24127166

  18. Congenital malaria in Urabá, Colombia

    PubMed Central

    2011-01-01

    Background Congenital malaria has been considered a rare event; however, recent reports have shown frequencies ranging from 3% to 54.2% among newborns of mothers who had suffered malaria during pregnancy. There are only a few references concerning the epidemiological impact of this entity in Latin-America and Colombia. Objective The aim of the study was to measure the prevalence of congenital malaria in an endemic Colombian region and to determine some of its characteristics. Methods A prospective, descriptive study was carried out in the mothers who suffered malaria during pregnancy and their newborns. Neonates were clinically evaluated at birth and screened for Plasmodium spp. infection by thick smear from the umbilical cord and peripheral blood, and followed-up weekly during the first 21 days of postnatal life through clinical examinations and thick smears. Results 116 newborns were included in the study and 80 umbilical cord samples were obtained. Five cases of congenital infection were identified (four caused by P. vivax and one by P. falciparum), two in umbilical cord blood and three in newborn peripheral blood. One case was diagnosed at birth and the others during follow-up. Prevalence of congenital infection was 4.3%. One of the infected newborns was severely ill, while the others were asymptomatic and apparently healthy. The mothers of the newborns with congenital malaria had been diagnosed with malaria in the last trimester of pregnancy or during delivery, and also presented placental infection. Conclusions Congenital malaria may be a frequent event in newborns of mothers who have suffered malaria during pregnancy in Colombia. An association was found between congenital malaria and the diagnosis of malaria in the mother during the last trimester of pregnancy or during delivery, and the presence of placental infection. PMID:21846373

  19. Corrective Jaw Surgery

    MedlinePlus

    ... and Craniofacial Surgery Cleft Lip/Palate and Craniofacial Surgery A cleft lip may require one or more ... find out more. Corrective Jaw Surgery Corrective Jaw Surgery Orthognathic surgery is performed to correct the misalignment ...

  20. Endodontic treatment of a maxillary lateral incisor presenting dens invaginatus and transposition to the region of the canine--case report.

    PubMed

    Pécora, J D; Saquy, P C; de Souza, J E; Sousa Neto, M D

    1991-01-01

    Endodontic treatment was performed in a maxillary lateral incisor presenting two different types of anomalies: dens invaginatus and transposition to the region of the canine. The two transposed teeth were subsequently restored with light-cured composite, bringing dental esthetics to normal in a single session.

  1. Functional dissection of the cis-acting sequences of the Arabidopsis transposable element Tag1 reveals dissimilar subterminal sequence and minimal spacing requirements for transposition.

    PubMed Central

    Liu, D; Mack, A; Wang, R; Galli, M; Belk, J; Ketpura, N I; Crawford, N M

    2001-01-01

    The Arabidopsis transposon Tag1 has an unusual subterminal structure containing four sets of dissimilar repeats: one set near the 5' end and three near the 3' end. To determine sequence requirements for efficient and regulated transposition, deletion derivatives of Tag1 were tested in Arabidopsis plants. These tests showed that a 98-bp 5' fragment containing the 22-bp inverted repeat and four copies of the AAACCX (X = C, A, G) 5' subterminal repeat is sufficient for transposition while a 52-bp 5' fragment containing only one copy of the subterminal repeat is not. At the 3' end, a 109-bp fragment containing four copies of the most 3' repeat TGACCC, but not a 55-bp fragment, which has no copies of the subterminal repeats, is sufficient for transposition. The 5' and 3' end fragments are not functionally interchangeable and require an internal spacer DNA of minimal length between 238 and 325 bp to be active. Elements with these minimal requirements show transposition rates and developmental control of excision that are comparable to the autonomous Tag1 element. Last, a DNA-binding activity that interacts with the 3' 109-bp fragment but not the 5' 98-bp fragment of Tag1 was found in nuclear extracts of Arabidopsis plants devoid of Tag1. PMID:11156999

  2. [Evaluation of congenital heart disease in adults].

    PubMed

    Oliver Ruiz, José María; Mateos García, Marta; Bret Zurita, Montserrat

    2003-06-01

    Improvements in the diagnosis and surgical treatment of congenital heart disease during infancy and childhood have resulted in an outstanding increase in the prevalence of these entities during adulthood. Congenital heart disease in the adult represents a new diagnostic challenge to the consultant cardiologist, unfamiliar with the anatomical and functional complexities of cardiac malformations. Assessment of adult congenital heart disease with imaging techniques can be as accurate as in children. However, these techniques cannot substitute for a detailed clinical assessment. Physical examination, electrocardiography and chest x-rays remain the three main pillars of bedside diagnosis. Transthoracic echocardiography is undoubtedly the imaging technique which provides most information, and in many situations no additional studies are needed. Nevertheless, ultrasound imaging properties in adults are not as favorable as in children, and prior surgical procedures further impair image quality. Despite recent advances in ultrasound technologies such as harmonic or contrast imaging, other diagnostic procedures are sometimes required. Fortunately, transesophageal echocardiography and magnetic resonance imaging are easily performed in the adult, and do not require anaesthetic support, in contrast to pediatric patients. These techniques, together with nuclear cardiology and cardiac catheterization, complete the second tier of diagnostic techniques for congenital heart disease. To avoid unnecessary repetition of diagnostic procedures, the attending cardiologist should choose the sequence of diagnostic techniques carefully; although the information this yields is often redundant, it is also frequently complementary. This article aims to compare the diagnostic utility of different imaging techniques in adult patients with congenital heart disease, both with and without prior surgical repair.

  3. [Congenital heart disease in Mexico. Regionalization proposal].

    PubMed

    Calderón-Colmenero, Juan; Cervantes-Salazar, Jorge Luis; Curi-Curi, Pedro José; Ramírez-Marroquín, Samuel

    2010-01-01

    Congenital cardiopathies are the most frequent congenital malformations. Reports of its prevalence around the world range from 2.1 to 12.3 for every 1000 newborns. Prevalence in our country remains unknown, but it probably occupies sixth place for mortality in infants less than a year old, and third place for mortality in those aged between 1 and 4 years. Based on birthrate, it is calculated that 10 to 12 000 infants in our country have some cardiac malformation. To understand the magnitude of the problem, it is important to identify the global number of newborns with some congenital cardiopathy each year and the type of malformation that they have, in order to determine the necessary resources and to plan their distribution. The main objective of regionalization is the justification of the resources with an emphasis in the specialized medical services to provide the best results for the patients. Hence, reason, based on the resources of each state, as well as their natality and infant mortality rates related to congenital cardiovascular pathology, we should proceed to regionalize the attention, and to simultaneously create a trustworthy database of the congenital cardiopathies. This should have many benefits, such as increase the number of total attended cases, improve the quality of attention, use appropriately the existent resources, and -surely- decrease the infant mortality.

  4. Congenital scoliosis: an up-to-date.

    PubMed

    Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, R A; Dughilă, C; Japie, E M; Onilă, A

    2015-01-01

    Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon.

  5. [Congenital heart disease, heterotaxia and laterality].

    PubMed

    Icardo, José Manuel; García Rincón, Juan Manuel; Ros, María Angeles

    2002-09-01

    Congenital heart disease occurs in about 0,8% of all newborns. Many cardiac malformations occur among relatives and have a polymorphic presentation. The origin of most congenital heart disease is thought to be multifactorial, implying both anomalous expression of genes and the influence of epigenetic factors. However, in a small number of cases, the origin of congenital heart disease has been directly related to chromosomal anomalies or to defects in a single gene. Curiously, defects in a single gene can explain a polymorphic presentation if the anomalous gene controls a basic embryonic process that affects different organs in time and space. Some of these genes appear to control the establishment of laterality. The establishment of the left-right asymmetry starts at the Hensen node. Here, the initial embryonic symmetry is broken by cascades of gene activation that confer specific properties on the left and right sides of the embryo. Although there are variations between species, some basic patterns of gene expression (Nodal, Pitx2) appear to be maintained along the phylogenetic scale. Anomalous expression of these genes induces the heterotaxia syndrome, which usually courses with congenital heart disease. The development of heart malformations is illustrated with the mouse mutant iv/iv, which is a model for the heterotaxia syndrome and the associated congenital heart disease.

  6. Genetic Syndromes associated with Congenital Heart Disease

    PubMed Central

    2015-01-01

    Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy and childhood. This review introduces common genetic syndromes showing various types of congenital heart disease, including Down syndrome, Turner syndrome, 22q11 deletion syndrome, Williams syndrome, and Noonan syndrome. Although surgical techniques and perioperative care have improved substantially, patients with genetic syndromes may be at an increased risk of death or major complications associated with surgery. Therefore, risk management based on an accurate genetic diagnosis is necessary in order to effectively plan the surgical and medical management and follow-up for these patients. In addition, multidisciplinary approaches and care for the combined extra-cardiac anomalies may help to reduce mortality and morbidity accompanied with congenital heart disease. PMID:26413101

  7. Transpositional reactivation of the Dart transposon family in rice lines derived from introgressive hybridization with Zizania latifolia

    PubMed Central

    2010-01-01

    Background It is widely recognized that interspecific hybridization may induce "genome shock", and lead to genetic and epigenetic instabilities in the resultant hybrids and/or backcrossed introgressants. A prominent component involved in the genome shock is reactivation of cryptic transposable elements (TEs) in the hybrid genome, which is often associated with alteration in the elements' epigenetic modifications like cytosine DNA methylation. We have previously reported that introgressants derived from hybridization between Oryza sativa (rice) and Zizania latifolia manifested substantial methylation re-patterning and rampant mobilization of two TEs, a copia retrotransposon Tos17 and a MITE mPing. It was not known however whether other types of TEs had also been transpositionally reactivated in these introgressants, their relevance to alteration in cytosine methylation, and their impact on expression of adjacent cellular genes. Results We document in this study that the Dart TE family was transpositionally reactivated followed by stabilization in all three studied introgressants (RZ1, RZ2 and RZ35) derived from introgressive hybridization between rice (cv. Matsumae) and Z. latifolia, while the TEs remained quiescent in the recipient rice genome. Transposon-display (TD) and sequencing verified the element's mobility and mapped the excisions and re-insertions to the rice chromosomes. Methylation-sensitive Southern blotting showed that the Dart TEs were heavily methylated along their entire length, and moderate alteration in cytosine methylation patterns occurred in the introgressants relative to their rice parental line. Real-time qRT-PCR quantification on the relative transcript abundance of six single-copy genes flanking the newly excised or inserted Dart-related TE copies indicated that whereas marked difference in the expression of all four genes in both tissues (leaf and root) were detected between the introgressants and their rice parental line under both normal

  8. Tissue culture-induced transpositional activity of mPing is correlated with cytosine methylation in rice

    PubMed Central

    Ngezahayo, Frédéric; Xu, Chunming; Wang, Hongyan; Jiang, Lily; Pang, Jinsong; Liu, Bao

    2009-01-01

    Background mPing is an endogenous MITE in the rice genome, which is quiescent under normal conditions but can be induced towards mobilization under various stresses. The cellular mechanism responsible for modulating the activity of mPing remains unknown. Cytosine methylation is a major epigenetic modification in most eukaryotes, and the primary function of which is to serve as a genome defense system including taming activity of transposable elements (TEs). Given that tissue-culture is capable of inducing both methylation alteration and mPing transposition in certain rice genotypes, it provides a tractable system to investigate the possible relationship between the two phenomena. Results mPing transposition and cytosine methylation alteration were measured in callus and regenerated plants in three rice (ssp. indica) genotypes, V14, V27 and R09. All three genotypes showed transposition of mPing, though at various frequencies. Cytosine methylation alteration occurred both at the mPing-flanks and at random loci sampled globally in callus and regenerated plants of all three genotypes. However, a sharp difference in the changing patterns was noted between the mPing-flanks and random genomic loci, with a particular type of methylation modification, i.e., CNG hypermethylation, occurred predominantly at the mPing-flanks. Pearson's test on pairwise correlations indicated that mPing activity is positively correlated with specific patterns of methylation alteration at random genomic loci, while the element's immobility is positively correlated with methylation levels of the mPing's 5'-flanks. Bisulfite sequencing of two mPing-containing loci showed that whereas for the immobile locus loss of CG methylation in the 5'-flank was accompanied by an increase in CHG methylation, together with an overall increase in methylation of all three types (CG, CHG and CHH) in the mPing-body region, for the active locus erasure of CG methylation in the 5'-flank was not followed by such a

  9. Newborn screening for congenital hypothyroidism.

    PubMed

    Büyükgebiz, Atilla

    2006-11-01

    Most neonates born with congenital hypothyroidism (CH) have normal appearance and no detectable physical signs. Hypothyroidism in the newborn period is almost always overlooked and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Blood spot T4 or TSH or both can be used in neonatal screening for CH. The latter, which is more sensitive, is not cost effective, so the first two are used in different programs in the world. TSH screening was shown to be more specific in the diagnosis of CH; T4 screening is more sensitive in detecting newborns especially with rare hypothalamic-pituitary hypothyroidism, but less specific with a high frequency of false positives mainly in low birth weight and premature infants. The time at which the sample is taken may vary between centers, with the majority taking blood from a heel prick after 24 hours of age to minimize the false positive high TSH due to the physiological neonatal TSH surge that elevates TSH levels and causes dynamic T4 and T3 changes in the first 1 or 2 days after birth. Early discharge of mothers postpartum has increased the ratio of false positive TSH elevations. Although transient hypothyroidism may occur frequently, all suspected infants should be treated as having CH for the first 3 years of life, taking into account the risks of mental retardation. A reevaluation after 3 years is needed in such patients. The goal of initial therapy in CH is to minimize neonatal central nervous system exposure to hypothyroidism by normalizing thyroid function, as reflected by T4 and TSH levels, as rapidly as possible. Iodine deficiency is the most important cause of CH worldwide. Iodine is essential for thyroid hormone synthesis and is present in soil, water and air. Prevention of iodine deficiency can be by iodized salt, iodized oil, iodized bread or iodine tablets. PMID:17220056

  10. Handicapping Conditions Associated with the Congenital Rubella Syndrome.

    ERIC Educational Resources Information Center

    Vernon, McCay; And Others

    1980-01-01

    The authors discuss the incidence of impairments diagnosed among children with congenital rubella syndrome. Approximately 73 percent are hearing impaired, at least 35 percent have congenital heart disorders, and 33 percent have visual defects. (Author)

  11. Congenital camptodactyly associated with the 48,XXYY syndrome.

    PubMed

    Bosch, A M; Hack, W W; Schrander-Stumpel, C T

    1998-01-01

    A male premature infant presented with slow development and congenital camptodactyly of both hands. Chromosome analysis showed a 48,XXYY karyotype. As far as we know, this is the first report describing congenital camptodactyly associated with the 48,XXYY syndrome.

  12. Neonatal hypoglycemia caused by hypopituitarism in infants with congenital syphilis.

    PubMed

    Daaboul, J J; Kartchner, W; Jones, K L

    1993-12-01

    Two infants with congenital syphilis and persistent hypoglycemia were found to have hypopituitarism. Hypopituitarism should be recognized as a potential complication of congenital syphilis; affected infants with persistent hypoglycemia should receive a prompt evaluation of pituitary function.

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

    MedlinePlus

    ... stationary night blindness autosomal dominant congenital stationary night blindness Enable Javascript to view the expand/collapse boxes. ... Close All Description Autosomal dominant congenital stationary night blindness is a disorder of the retina , which is ...

  14. Genetics Home Reference: congenital bile acid synthesis defect type 1

    MedlinePlus

    ... bile acid synthesis defect type 1 congenital bile acid synthesis defect type 1 Enable Javascript to view ... PDF Open All Close All Description Congenital bile acid synthesis defect type 1 is a disorder characterized ...

  15. Genetics Home Reference: congenital bile acid synthesis defect type 2

    MedlinePlus

    ... bile acid synthesis defect type 2 congenital bile acid synthesis defect type 2 Enable Javascript to view ... PDF Open All Close All Description Congenital bile acid synthesis defect type 2 is a disorder characterized ...

  16. E mu/S mu transposition into Myc is sometimes a precursor for T(12;15) translocation in mouse B cells.

    PubMed

    Kovalchuk, Alexander L; Kim, Joong Su; Janz, Siegfried

    2003-05-01

    Misguided immunoglobulin (Ig) class switch recombination (CSR) has been implicated in the origin of Myc-activating chromosomal translocations, T(12;15), in BALB/c mouse plasmacytomas (PCTs). CSR has also been involved in the progression of T(12;15); for example, the approximation of Myc to the 3'-C alpha enhancer. This study provides evidence for an additional mechanism by which aberrant CSR may facilitate T(12;15): transposition of Ig heavy-chain (IgH) sequences to Myc. Five IgH transposons containing the intronic heavy-chain enhancer, E mu, and a truncated switch mu region, S mu, were found in the first intron of Myc in lymph node cells of IL-6 transgenic BALB/c mice. In two cases E mu/S mu transposition primed Myc to get involved in apparent trans-chromosomal CSR to C gamma 1, presumably leading to T(12;15). Translocations preceded by E mu/S mu transposition can sometimes be distinguished from de novo translocations by molecular fingerprints in translocation breakpoint regions (Ig switch region [S] inversions and unusual gene orders in composite S regions). The presence of such fingerprints in some PCTs suggests that the tumors sometimes evolve from transposition-bearing precursors. We propose that E mu/S mu transposition to Myc may facilitate plasmacytomagenesis by sensitizing Myc to undergo T(12;15) translocation. T(12;15), in turn, juxtaposes Myc to the 3'-C alpha enhancer, which appears to be required for deregulating Myc in a manner that is conducive to PCT development.

  17. Transcription of AAT•ATT Triplet Repeats in Escherichia coli Is Silenced by H-NS and IS1E Transposition

    PubMed Central

    Pan, Xuefeng; Liao, Lingni; Yang, Li; Li, Hongquan

    2010-01-01

    Background The trinucleotide repeats AAT•ATT are simple DNA sequences that potentially form different types of non-B DNA secondary structures and cause genomic instabilities in vivo. Methodology and Principal Findings The molecular mechanism underlying the maintenance of a 24-triplet AAT•ATT repeat was examined in E.coli by cloning the repeats into the EcoRI site in plasmid pUC18 and into the attB site on the E.coli genome. Either the AAT or the ATT strand acted as lagging strand template in a replication fork. Propagations of the repeats in either orientation on plasmids did not affect colony morphology when triplet repeat transcription using the lacZ promoter was repressed either by supplementing LacIQ in trans or by adding glucose into the medium. In contrast, transparent colonies were formed by inducing transcription of the repeats, suggesting that transcription of AAT•ATT repeats was toxic to cell growth. Meanwhile, significant IS1E transposition events were observed both into the triplet repeats region proximal to the promoter side, the promoter region of the lacZ gene, and into the AAT•ATT region itself. Transposition reversed the transparent colony phenotype back into healthy, convex colonies. In contrast, transcription of an 8-triplet AAT•ATT repeat in either orientation on plasmids did not produce significant changes in cell morphology and did not promote IS1E transposition events. We further found that a role of IS1E transposition into plasmids was to inhibit transcription through the repeats, which was influenced by the presence of the H-NS protein, but not of its paralogue StpA. Conclusions and Significance Our findings thus suggest that the longer AAT•ATT triplet repeats in E.coli become vulnerable after transcription. H-NS and its facilitated IS1E transposition can silence long triplet repeats transcription and preserve cell growth and survival. PMID:21151567

  18. Intra-isthmus reentry associated with uncorrected double inlet left ventricle and transposition of the great arteries.

    PubMed

    Dhillon, Paramdeep S; Li, Anthony; Gonna, Hanney; Ward, David E

    2013-01-01

    A 62-year-old man with uncorrected cyanotic congenital heart disease involving double inlet left ventricle with visceral and atrial situs solitus, L-looped ventricles, L-transposed great vessels, and pulmonary stenosis, presented with recurrent atrial tachycardia. Entrainment mapping revealed the arrhythmia mechanism to be an uncommon micro-reentrant cavotricuspid isthmus-dependent circuit (intra-isthmus reentry), which was amenable to radiofrequency ablation. This uncommon right atrial arrhythmia is yet to be reported in patients with complex congenital heart disease and was amenable to radiofrequency ablation.

  19. Combined cataract phacoemulsification and aniridia endocapsular rings implantation in a patient with bilateral congenital aniridia and cataract: A case report

    PubMed Central

    Gonzalez-Salinas, Roberto; Pena-Guani, Fabiola

    2015-01-01

    The objective of this article was to determine the long-term outcome of surgical treatment in a patient with bilateral congenital aniridia and congenital cataracts. The patient was treated by cataract removal and implantation of a single piece IOL in both eyes. Two aniridia rings were also implanted in the capsular bag. The best-corrected visual acuity (BCVA), intraocular pressure (IOP), stability of the intraocular lens (IOL) and subjective glare reduction were measured for two years after the surgery. After 10 months, the IOP in the left eye had increased to 26 mmHg despite the fact that anti-glaucoma medication was added. Therefore, the patient was scheduled for an Ahmed valve implantation. These results suggest that good visual outcomes can be achieved in patients with bilateral congenital aniridia and cataracts. Nevertheless, the IOPs must be continuously monitored, and glaucoma screening performed to prevent further complications. PMID:26949363

  20. A resurgence of congenital rubella in Australia?

    PubMed

    Forrest, Jill M; Burgess, Margaret; Donovan, Tim

    2003-01-01

    Two infants with congenital rubella defects (congenital rubella syndrome) have been reported from Queensland in 2003, after an increase in rubella in that State in 2001-2002. The national Measles Control Campaign in 1998 aimed to give measles-mumps-rubella (MMR) vaccine to all unvaccinated preschoolers and a second dose to primary schoolchildren. Following the Campaign no children with congenital rubella defects were born to Australian-born mothers during the five years 1998 to 2002, according to reports to the Australian Paediatric Surveillance Unit. However, three imported cases occurred. Broad immunisation coverage and detection and vaccination of susceptible women of child-bearing age before they become pregnant are necessary to prevent further cases.