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Sample records for congenital corrected transposition

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

    PubMed

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

    1987-01-01

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

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

    PubMed

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

    2013-01-01

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

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

    PubMed

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

    2015-11-01

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

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

    PubMed

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

    2005-12-01

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

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

    PubMed

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

    2017-02-09

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

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

    PubMed

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

    1976-09-01

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

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

    PubMed

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

    2004-06-01

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

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

    PubMed

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

    2006-07-16

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

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

    PubMed

    Gal, R; Port, S C

    1987-01-01

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

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

    PubMed Central

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

    2017-01-01

    Situs inversus with levocardia and congenitally corrected transposition of the great arteries represents a relatively very rare congenital condition and most patients are diagnosed in infancy or early age. This case report describes a 35-year old man with congenitally corrected transposition of the great arteries which presented with a five month history of exertional dyspnea. A diagnosis was confirmed by transesophageal echocardiogram, showing situs inversus, levocardia, atrioventricular and ventriculoarterial discordance. He underwent physiologic repair, and was discharged thirty five days after the operation, in a good general condition. Although management of the corrected transposition of the great arteries patients remains controversial, the recommendation is that physiologic repair may be the procedure of choice for some patients, particularly complicated cases. PMID:28243408

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

    PubMed Central

    Medep, Vikas

    2017-01-01

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

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

    PubMed

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

    1994-08-26

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

  13. 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

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

    PubMed

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

    2013-11-01

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

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

    PubMed

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

    2012-12-01

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

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

    PubMed

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

    2014-01-01

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

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

    PubMed Central

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

    2017-01-01

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

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

    PubMed

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

    2007-08-01

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

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

    PubMed

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

    1989-07-01

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

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

    PubMed

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

    2016-01-01

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

  1. [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.

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

    PubMed

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

    1990-06-01

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

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

    PubMed

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

    1993-08-01

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

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

    PubMed

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

    2017-03-30

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

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

    PubMed

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

    2016-06-01

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

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

    PubMed

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

    1970-03-01

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

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

    PubMed

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

    1996-11-01

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

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

    PubMed

    Deboer, A; Miller, R; Otto, R

    1975-12-01

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

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

    MedlinePlus

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

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

    PubMed

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

    1976-06-01

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

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

    PubMed

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

    2001-01-01

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

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

    PubMed

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

    2008-01-01

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

  13. 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

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

    PubMed Central

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

    1986-01-01

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

  15. 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.

  16. [32 years of Senning's correction for transposition of the great vessels].

    PubMed

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

    1996-01-01

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

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

    PubMed

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

    1995-01-01

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

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

    PubMed Central

    Shenthar, Jayaprakash; Rai, Maneesh K.

    2015-01-01

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

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

    PubMed

    Grolleau, R; Baissus, C; Puech, P

    1977-01-01

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

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

    PubMed

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

    1994-01-01

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

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

    PubMed

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

    1977-09-01

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

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

    PubMed

    Carter, G A

    1976-01-01

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

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

    PubMed

    Avetisov, S E

    2003-01-01

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

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

    PubMed

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

    2011-04-01

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

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

    PubMed

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

    1984-11-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    1987-04-01

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

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

    PubMed

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

    1992-12-01

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

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

    PubMed

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

    2011-08-01

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

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

    PubMed

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

    2000-01-01

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

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

    PubMed

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

    2017-01-01

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

  12. 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.

  13. Transposition of the great arteries

    PubMed Central

    Martins, Paula; Castela, Eduardo

    2008-01-01

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

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

    PubMed

    Danezis, J; Soumplis, A; Papathanassiou, Z

    1978-01-01

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

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

    PubMed

    Joseph, George; Zenios, Michalis

    2014-12-01

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

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

    PubMed

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

    2007-01-01

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

  17. 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

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

    PubMed

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

    2009-09-01

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

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

    PubMed

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

    1970-05-01

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

  20. 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.…

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

    PubMed

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

    1995-01-01

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

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

    PubMed Central

    Millard, D. R.

    1994-01-01

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

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

    PubMed Central

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

    2009-01-01

    INTRODUCTION Congenital glaucoma is frequently associated with visual impairment due to optic nerve damage, corneal opacities, cataracts and amblyopia. Poor vision in childhood is related to global developmental problems, and referral to vision habilitation/rehabilitation services should be without delay to promote efficient management of the impaired vision. OBJECTIVE To analyze data concerning visual response, the use of optical correction and prescribed low vision aids in a population of children with congenital glaucoma. METHOD The authors analyzed data from 100 children with congenital glaucoma to assess best corrected visual acuity, prescribed optical correction and low vision aids. RESULTS Fifty-five percent of the sample were male, 43% female. The mean age was 6.3 years. Two percent presented normal visual acuity levels, 29% mild visual impairment, 28% moderate visual impairment, 15% severe visual impairment, 11% profound visual impairment, and 15% near blindness. Sixty-eight percent received optical correction for refractive errors. Optical low vision aids were adopted for distance vision in 34% of the patients and for near vision in 6%. A manual monocular telescopic system with 2.8 × magnification was the most frequently prescribed low vision aid for distance, and for near vision a +38 diopter illuminated stand magnifier was most frequently prescribed. DISCUSSION AND CONCLUSION Careful low vision assessment and the appropriate prescription of optical corrections and low vision aids are mandatory in children with congenital glaucoma, since this will assist their global development, improving efficiency in daily life activities and promoting social and educational inclusion. PMID:19690654

  4. 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).

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

    PubMed

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

    2012-07-13

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

  6. 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

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

    PubMed

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

    2015-06-01

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

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

    PubMed

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

    2009-10-01

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

  9. Right ventricular failure in congenital heart disease.

    PubMed

    Cho, Young Kuk; Ma, Jae Sook

    2013-03-01

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

  10. Genetics Home Reference: critical congenital heart disease

    MedlinePlus

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

  11. 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.

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

    PubMed

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

    2008-01-01

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

  13. 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

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

    PubMed

    DiNardo, James A

    2011-07-01

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

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

    PubMed

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

    1989-01-01

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

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

    PubMed

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

    2015-01-18

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

  18. 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

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

    PubMed Central

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

    1970-01-01

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

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

    PubMed

    Buchhorn, Reiner

    2014-01-01

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

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

    PubMed

    Rouault, F A

    2002-11-01

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

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

    PubMed

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

    1991-10-01

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

  3. 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.

  4. 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

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

    PubMed

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

    2001-03-01

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

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

    PubMed Central

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

    2016-01-01

    Bilateral mandibular tooth transposition is a relatively rare dental anomaly caused by distal migration of the mandibular lateral incisors and can be detected in the early mixed dentition by radiographic examination. Early diagnosis and interceptive intervention may reduce the risk of possible transposition between the mandibular canine and lateral incisor. This report illustrates the orthodontic management of bilateral mandibular canine-lateral incisor transposition. Correct positioning of the affected teeth was achieved on the left side while teeth on the right side were aligned in their transposed position. It demonstrates the outcome of good alignment of the teeth in the dental arch. PMID:28119788

  7. Curricular Transposition in Citizenship Education

    ERIC Educational Resources Information Center

    McCowan, Tristan

    2008-01-01

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

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

    PubMed

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

    2010-03-01

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

  9. 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.

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

    PubMed Central

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

    2017-01-01

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

  11. 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.

  12. Autonomic Nervous System Function in Infants with Transposition of the Great Arteries

    PubMed Central

    Harrison, Tondi M.; Brown, Roger L.

    2011-01-01

    The ability to maintain homeostasis and respond to challenges to homeostasis is primarily a function of the autonomic nervous system (ANS) and may be impaired in infants with complex congenital heart defects. This study described change in ANS function before and after surgical correction in infants with transposition of the great arteries (TGA) and in healthy infants. Fifteen newborn infants with TGA were matched with 16 healthy infants on age, gender, and feeding type. ANS function was measured using heart rate variability (HRV). Data were collected pre-operatively in the first week of life and post-operatively before, during, and after feeding at two weeks and two months of age. At baseline, infants with TGA demonstrated significantly lower high frequency and low frequency HRV pre-operatively (p <.001) when compared with healthy infants. At two weeks, infants with TGA were less likely than healthy infants to demonstrate adaptive changes in high frequency HRV during-feeding (Wald Z = 2.002, p = .045), and at two months, 40% of TGA infants exhibited delayed post-feeding recovery. Further research is needed to more thoroughly describe mechanisms of a physiologically adaptive response to feeding and to develop nursing interventions supportive of these high risk infants. PMID:21613339

  13. Data Exploration: Transposition Operations in Dynamic Diagrams.

    ERIC Educational Resources Information Center

    Sivasankaran, Vijay K.; Owen, Charles L.

    1992-01-01

    Defines transposition operations (changing the way the display of the model proceeds) in diagrams within computer graphics. Describes transpositions that are spatial (moving the point of view or the point viewed), procedural (changing the flow of time), or organizational (arranging multiple simultaneous views and interjecting auxiliary measuring…

  14. 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…

  15. 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

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

    PubMed

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

    2016-12-01

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed Central

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

    2011-01-01

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

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

    PubMed Central

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

    2013-01-01

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

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

    PubMed

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

    2011-10-01

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

  1. Corrections.

    PubMed

    2015-07-01

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

  2. Correction.

    PubMed

    2016-02-01

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

  3. Congenital Abnormalities

    MedlinePlus

    ... Listen Español Text Size Email Print Share Congenital Abnormalities Page Content Article Body About 3% to 4% ... of congenital abnormalities earlier. 5 Categories of Congenital Abnormalities Chromosome Abnormalities Chromosomes are structures that carry genetic ...

  4. Transposition of teeth: A forensic perspective

    PubMed Central

    Nambiar, Supriya; Mogra, Subraya; Shetty, Surendra

    2014-01-01

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

  5. Correction

    NASA Astrophysics Data System (ADS)

    1998-12-01

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

  6. Permanent magnet machine with windings having strand transposition

    SciTech Connect

    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.

  7. Transposition of the great vessels

    MedlinePlus

    ... blood to mix. A surgery called an arterial switch procedure is used to permanently correct the problem ... the baby's first week of life. This surgery switches the great arteries back to the normal position ...

  8. Transposition of the Greater Arteries (TGA)

    MedlinePlus

    ... rest of the body. According to the National Heart, Lung, and Blood Institute (NHLBI), TGA affects roughly 5 out of every 10,000 babies. The defect is found more frequently in Caucasians. Untreated, more than 50% of infants with transposition will die in the first month ...

  9. Omental transposition for low pelvic anastomoses.

    PubMed

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

    2001-11-01

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

  10. Gender-transposition theory and homosexual genesis.

    PubMed

    Money, J

    1984-01-01

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

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

    PubMed

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

    2016-06-01

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

  12. Managing Heart Failure in Transposition of the Great Arteries

    PubMed Central

    Shah, Sangeeta; Gupta, Tripti; Ahmad, Raza

    2015-01-01

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

  13. Congenital Atrichia Associated with Situs Inversus and Mesocardia

    PubMed Central

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

    2012-01-01

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

  14. Surgical transposition of the ovary: Radiologic appearance

    SciTech Connect

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

    1989-12-01

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

  15. Congenital Hypothyroidism

    MedlinePlus

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

  16. 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.

  17. 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

  18. Congenital heart defect - corrective surgery

    MedlinePlus

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

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

    PubMed

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

    1998-09-01

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

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

    PubMed

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

    2017-03-06

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

  1. 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.

  2. Sleeping Beauty transposition: from biology to applications.

    PubMed

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

    2017-02-01

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

  3. 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

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

    PubMed Central

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

    2015-01-01

    Aims. To report the results of lateral rectus muscle recession, medial rectus muscle resection, and superior oblique muscle transposition in the restoration and maintenance of ocular alignment in primary position for patients with total third-nerve palsy. Methods. The medical records of patients who underwent surgery between March 2007 and September 2011 for total third-nerve palsy were reviewed. All patients underwent a preoperative assessment, including a detailed ophthalmologic examination. Results. A total of 6 patients (age range, 14–45 years) were included. The median preoperative horizontal deviation was 67.5 Prism Diopter (PD) (interquartile range [IQR] 57.5–70) and vertical deviation was 13.5 PD (IQR 10–20). The median postoperative horizontal residual exodeviation was 8.0 PD (IQR 1–16), and the vertical deviation was 0 PD (IQR 0–4). The median correction of hypotropia following superior oblique transposition was 13.5 ± 2.9 PD (range, 10–16). All cases were vertically aligned within 5 PD. Four of the six cases were aligned within 10 PD of the horizontal deviation. Adduction and head posture were improved in all patients. All patients gained new area of binocular single vision in the primary position after the operation. Conclusion. Lateral rectus recession, medial rectus resection, and superior oblique transposition may be used to achieve satisfactory cosmetic and functional results in total third-nerve palsy. PMID:26640703

  5. 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

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

    PubMed

    Alon, E; Baumann, H

    1988-01-01

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

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

    PubMed

    Martínez-Quintana, Efrén; Rodríguez-González, Fayna

    2015-03-01

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

  8. 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.

  9. Transpositionally active episomal hAT elements

    PubMed Central

    2009-01-01

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

  10. [Congenital thrombophilia].

    PubMed

    Kojima, Tetsuhito

    2016-03-01

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

  11. Congenital cataract

    MedlinePlus

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

  12. 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 ...

  13. Congenital rubella

    MedlinePlus

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

  14. 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, ...

  15. 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

  16. [Congenital diarrhoea].

    PubMed

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

    2011-01-01

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

  17. 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.

  18. 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.

  19. Tibiofibula Transposition in High-Energy Fractures

    PubMed Central

    Gledhill, Rebecca A.; Evans, Nick

    2016-01-01

    We report two cases of failed attempts at closed reduction of high-energy tibial fractures with an associated fibula fracture. The first case was a 39-year-old male involved in high-speed motorbike collision, while the second was a 14-year-old male who injured his leg following a fall of three metres. Emergency medical services at the scenes of the accidents reported a 90-degree valgus deformity of the injured limb and both limbs were realigned on scene and stabilized. Adequate alignment of the tibia could not be achieved by manipulation under sedation or anaesthesia. Open reduction and exposure of the fracture sites revealed that the distal fibula fragment was “transposed” and entrapped in the medulla of the proximal tibial fragment. Reduction required simulation of the mechanism of injury in order to disengage the fragments and allow reduction. Tibiofibula transposition is a rare complication of high-energy lower limb fractures which has not previously been reported and may prevent adequate closed reduction. Impaction of the distal fibula within the tibial medulla occurs as the limb is realigned by paramedic staff before transfer to hospital. We recommend that when this complication is identified the patient is transferred to the operating room for open reduction and stabilization of the fracture. PMID:27807487

  20. 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

  1. [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.

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

    PubMed Central

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

    2010-01-01

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

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

    PubMed

    Lopez, J Alberto; Lufschanowski, Roberto

    2007-01-01

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

  4. [Congenital epulis].

    PubMed

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

    2009-01-01

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

  5. Tracheomalacia - congenital

    MedlinePlus

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

  6. 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…

  7. 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."

  8. 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

  9. 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

  10. 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.

  11. 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

  12. [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.

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

    PubMed

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

    1985-01-01

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

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

    PubMed

    Posner, M A

    1984-01-01

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

  15. Congenital scoliosis.

    PubMed

    Kose, Nusret; Campbell, Robert M

    2004-05-01

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

  16. [Congenital ranula].

    PubMed

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

    2010-01-01

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

  17. 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.

  18. [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.

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

    PubMed

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

    2012-10-01

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

  20. Lengthening of congenital forearm stumps.

    PubMed

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

    2006-05-01

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

  1. 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…

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

    PubMed

    György, G; Acosta Alvarez, P

    1993-01-01

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

  3. Cognitive development in transposition of the great vessels.

    PubMed

    Hesz, N; Clark, E B

    1988-02-01

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

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

    DOEpatents

    Gustavson, Fred Gehrung; Gunnels, John A

    2014-02-04

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

  5. Congenital anomalies

    PubMed Central

    Kunisaki, Shaun M.

    2012-01-01

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

  6. 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

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

    PubMed

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

    2014-10-01

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

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

    PubMed

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

    2017-01-09

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

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

    PubMed Central

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

    2017-01-01

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

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

    SciTech Connect

    Xie, Yu; Sengupta, Manajit

    2016-06-02

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

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

    PubMed Central

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

    2013-01-01

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

  13. Congenital anomalies associated with congenital hypothyroidism.

    PubMed

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

    1999-01-01

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

  14. Congenital Heart Disease in Adults

    MedlinePlus

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

  15. 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

  16. [Genetics of congenital cardiopathies].

    PubMed

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

    2000-07-01

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

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

    PubMed

    Rival, Franck

    2015-01-01

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

  18. Congenital Diaphragmatic Hernia

    PubMed Central

    2012-01-01

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

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

    SciTech Connect

    Xie, Yu; Sengupta, Manajit

    2016-06-01

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

  20. 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.

  1. Organization of tn2610 containing two transposition modules.

    PubMed

    Takaya, Akiko; Watanabe, Masato; Yamamoto, Tomoko

    2006-04-01

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

  2. Congenital dystrophic medial rectus muscles

    PubMed Central

    Murthy, Ramesh

    2017-01-01

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

  3. Short stature with congenital ichthyosis.

    PubMed

    Lakhani, Som J; Lakhani, Om J

    2015-12-09

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

  4. 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.

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

    PubMed

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

    1978-02-01

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

  6. Congenital defects of sheep.

    PubMed

    Dennis, S M

    1993-03-01

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

  7. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

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

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

    PubMed

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

    1992-03-01

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

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

    PubMed

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

    2017-02-15

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

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

    PubMed Central

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

    2017-01-01

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

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

    PubMed

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

    1993-03-01

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

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

    PubMed Central

    Chuaqui, B

    1979-01-01

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

  13. Multifocal Congenital Hemangiopericytoma.

    PubMed

    Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

    2017-01-01

    Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported.

  14. 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.

  15. 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

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

    PubMed

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

    2016-12-23

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

  17. Current diagnosis and treatments for critical congenital heart defects

    PubMed Central

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

    2016-01-01

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

  18. Anatomically corrected malposition of great arteries.

    PubMed Central

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

    1975-01-01

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

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

    PubMed

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

    2016-08-19

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

  20. Giant congenital melanocytic nevus*

    PubMed Central

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

    2013-01-01

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

  1. 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

  2. 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.

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

    SciTech Connect

    Kier, R.; Chambers, S.K. )

    1989-11-01

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

  4. 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.

  5. Determinants for hairpin formation in Tn10 transposition

    PubMed Central

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

    2001-01-01

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

  6. [Anatomic and surgical background for splenorenal venous transposition].

    PubMed

    Torgunakov, S A; Torgunakov, A P

    2008-01-01

    Unilateral portalization of adrenal and renal blood is used in clinical practice for arterial hypertension, chronic hepatitis and type 1 diabetes mellitus management. Left-sided renoportal venous anastomosis (RPVA), spleen vessel ligation and unilateral adrenalectomy (if indicated) are the technical backbone of the intervention. This operation was used for 50 patients with chronic hepatitis. Ten of them were investigated 15-19 years postoperatively. Positive effect on the disease progression was found in the absence of negative consequences for liver, kidneys and spleen. Ultrasonography has demonstra-ted patent anastomosis in all patients. In early postoperative period hyperthermia and epigastrial pain were registered in 14.3% of cases as a consequence of thrombosis in ligated spleen vein stump. The paper describes the development of splenorenal venous transposition (SRVT) technique as an improved variant of adrenal and renal blood unilateral portalization, in which spleen vessel ligation is replaced by splenorenal end-to-end anastomosis. The study included 111 cadaveric experiments. The technique of surgical intervention is described, its clinical requirements and potential obstacles. It is shown that SRVT can be fulfilled in 52.1% of cases with autovein graft. SRVT is more laborious and rare intervention, then single left-sided RPVA and must be initially practiced on cadavers. Indications for SRVT may include arterial hypertension, chronic hepatitis and type 1 diabetes mellitus.

  7. Giant congenital nevus

    MedlinePlus

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

  8. Congenital heart disease

    MedlinePlus

    ... defect - heartbeat Patent ductus arteriosis (PDA) - series References Fraser CD, Carberry KE. Congenital heart disease. In: Townsend ... ASD) Coarctation of the aorta Ellis-van Creveld syndrome Fetal alcohol syndrome Hypoplastic left heart syndrome Marfan ...

  9. Congenital complete heart block.

    PubMed Central

    Agarwala, B.; Sheikh, Z.; Cibils, L. A.

    1996-01-01

    Congenital complete heart block in utero has become diagnosed more frequently with the clinical use of fetal echocardiography. The fetus with complete heart block may remain asymptomatic or may develop congestive heart failure. Congenital complete heart block is more frequently seen in infants of mothers with systemic lupus erythematosus, both clinically manifested and subclinical systemic lupus erythematosus with positive antibodies (SS-A and SS-B antibodies). At birth, the neonate with complete heart block may remain asymptomatic and may not require a pacemaker to increase the heart rate. The indications for a pacemaker in neonates with complete heart block have been discussed. Both in-utero and neonatal management of congenital complete heart block are discussed to manage congestive heart failure in a fetus. Four patients with congenital complete heart block are presented covering a broad spectrum of clinical presentation, diagnosis, and management both in the fetal and neonatal period. Images Figure 1 PMID:8961692

  10. Congenital nephrotic syndrome

    MedlinePlus

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  11. Congenital Heart Information Network

    MedlinePlus

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

  12. 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.

  13. Clinical presentation and management of congenital ptosis

    PubMed Central

    Marenco, Marco; Macchi, Ilaria; Macchi, Iacopo; Galassi, Emilio; Massaro-Giordano, Mina; Lambiase, Alessandro

    2017-01-01

    Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed. The grade of ptosis, the eyelid function, and the amblyopic risk are the parameters that affect the ophthalmologist’s decision on timing of surgery and the surgical technique to be used. In fact, there are several types of surgical techniques to correct a congenital ptosis, although very often more than one is needed to obtain an acceptable result. This paper reviews the causes of congenital ptosis and associated diseases. Particular emphasis is given to surgical management and different procedures available to correct the upper eyelid anomaly and avoid permanent damage to visual function. PMID:28280295

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

    NASA Astrophysics Data System (ADS)

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

    2013-04-01

    Spatial and temporal variability of rainfall fields, and their interactions with surface, subsurface, and drainage network properties, are important drivers of flood response. 'Design storms,' which are commonly used for flood risk assessment, however, are assumed to be uniform in space and either uniform or highly idealized in time. The impacts of these and other common assumptions on estimates of flood risk are poorly understood. We present an alternative framework for flood risk assessment based on stochastic storm transposition (SST). In this framework, "storm catalogs" are derived from a ten-year high-resolution (15-minute, 1 km2) bias-corrected radar rainfall dataset for the region surrounding Charlotte, North Carolina, USA. SST-based rainfall frequency analyses are developed by resampling from these storm catalogs to synthesize the regional climatology of extreme rainfall. SST-based intensity-frequency-duration (IFD) estimates are driven by the spatial and temporal rainfall variability from weather radar observations, are specifically tailored to the chosen catchment, and do not require simplifying assumptions of storm structure. We are able to use the SST procedure to reproduce IFD estimates from conventional methods for small urban catchments in Charlotte. We further demonstrate that extreme rainfall can vary substantially in time and in space, with important flood risk implications that cannot be assessed using conventional techniques. When coupled with a physics-based distributed hydrologic model, the Gridded Surface Subsurface Hydrologic Analysis (GSSHA) model, SST enables us to examine the full impact of spatial and temporal rainfall variability on flood response and flood frequency. The interactions of extreme rainfall with spatially distributed land use, soil properties, and stormwater management infrastructure are assessed for several nested urban catchments in Charlotte. Results suggest that these interactions, which cannot be fully accounted for

  15. Endoscopic Transmaxillary Transposition of Temporalis Flap for Recurrent Cerebrospinal Fluid Leak Closure.

    PubMed

    Thomas, Regi; Girishan, Shabari; Chacko, Ari George

    2016-12-01

    Objective To describe the technique of endoscopic transmaxillary temporalis muscle flap transposition for the repair of a persistent postoperative sphenoidal cerebrospinal fluid leak. Design The repair of a recurrent cerebrospinal fluid leak for a patient who had undergone endoscopic transsphenoidal excision of an invasive silent corticotroph Hardy C and Knosp Grade IV pituitary adenoma was undertaken. The patient had completed postoperative radiotherapy for the residual tumor and presented with cerebrospinal fluid leak, 1 year later. The initial two attempts to repair the cerebrospinal fluid leak with free grafts failed. Therefore, an endoscopic transmaxillary transposition of the temporalis muscle flap was attempted to stop the cerebrospinal fluid leak. Results The endoscopic transmaxillary transposition of the vascularized temporalis muscle flap onto the cerebrospinal fluid leak repair site resulted in successful closure of the cerebrospinal fluid leak. Conclusion Endoscopic transmaxillary transposition of the temporalis flap resulted in closure of recurrent cerebrospinal fluid leak in a patient with recurrent pituitary adenoma, who had undergone previous surgery and radiotherapy. This technique has advantages over the endoscopic transpterygoid transposition of the same flap and could be used as a complementary technique in selected patients.

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

    ERIC Educational Resources Information Center

    O'Neill, Edward T.; Aluri, Rao

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

  17. Simple transposition technique for microvascular decompression using an expanded polytetrafluoroethylene "belt": technical note.

    PubMed

    Tanaka, Yuichiro; Uchida, Masashi; Onodera, Hidetaka; Hiramoto, Jun; Yoshida, Yasuyuki

    2014-06-17

    Microvascular decompression (MVD) is a standard surgical procedure for treating vascular compression syndromes. There are two basic ways to perform MVD: interposition using a prosthesis and transposition. With the transposition technique, adhesions and granuloma around the decompression site are avoided, but the required operation is more complex than that for the interposition method. We describe a simple, quick MVD transposition procedure that uses a small "belt" cut from a sheet of 0.3-mm-thick expanded polytetrafluoroethylene membrane. The belt has a hole at the wide end and the other end tapered to a point. The belt is encircled around offending vessels by inserting the pointed end into the hole. The pointed end is then passed through a dural tunnel over the posterior wall of the petrous bone and is tied two or three times. This method avoids the risks involved in handling a surgical needle close to the cranial nerves and vessels.

  18. [Esophagectomy and colonic orthotopic transposition by video-assisted thoracoscopy (VATS)].

    PubMed

    Lau Torres, Víctor Eduardo; Salazar Tantaleán, Víctor Augusto

    2009-01-01

    The esophagectomy and colonic transposition by video-assisted thoracoscopy (VATS), still not recommended as a technique of choice for the treatment of benign and malignant esophagus despite good results in hospitalization, morbidity and mortality. This case describes a 24 year old male patient who swallowed muriatic acid, causing severe injuries to the esophagus and stomach. Initially, he performed jejunal transposition which subsequently are causing progressive dysphagia, readmitted 2 years later. This time surgery is performed in 2 stages: (1) rise of the ascending colon and jejunum distal to oesophageal vasculature itself, by open surgery (2) esophagectomy and colonic orthotopic transposition by VATS and posterior hypopharyngeal anastomosis in colon anterior cervical region. Patient was discharged without complications and shorter hospital stay. Currently no evidence of dysphagia, improved nutritional status and ultimately better quality of life.

  19. 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

  20. Genomic parasites or symbionts? Modeling the effects of environmental pressure on transposition activity in asexual populations.

    PubMed

    Startek, Michał; Le Rouzic, Arnaud; Capy, Pierre; Grzebelus, Dariusz; Gambin, Anna

    2013-12-01

    Transposable elements are DNA segments capable of persisting in host genomes by self-replication in spite of deleterious mutagenic effects. The theoretical dynamics of these elements within genomes has been studied extensively, and population genetic models predict that they can invade and maintain as a result of both intra-genomic and inter-individual selection in sexual species. In asexuals, the success of selfish DNA is more difficult to explain. However, most theoretical work assumes constant environment. Here, we analyze the impact of environmental change on the dynamics of transposition activity when horizontal DNA exchange is absent, based on a stochastic computational model of transposable element proliferation. We argue that repeated changes in the phenotypic optimum in a multidimensional fitness landscape may induce explosive bursts of transposition activity associated with faster adaptation. However, long-term maintenance of transposition activity is unlikely. This could contribute to the significant variation in the transposable element copy number among closely related species.

  1. Heart transplantation in adults with congenital heart disease.

    PubMed

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

    2017-02-22

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

  2. 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.

  3. 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.

  4. Bilateral chylothorax complicating Mustard repair of transposition of the great vessels.

    PubMed

    Copeland, J G; Shaut, C

    1982-10-01

    Less than 60 cases of bilateral chylothorax have been previously reported, and only two of these involve complicated Mustard procedures. We describe herein a patient in whom severe bilateral chylothorax developed three weeks after Mustard repair of D transposition. Complete reversal of this condition was obtained with revision of the constricted interatrial baffle and ligation of the thoracic duct. This cases is compared clinically with previously reported instances of chylothorax, and the role of played by obstruction of the superior vena cava after a Mustard procedure for transposition of the great vessels is emphasized.

  5. What Are Congenital Heart Defects?

    MedlinePlus

    ... heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  6. Types of Congenital Heart Defects

    MedlinePlus

    ... heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  7. Environmental aspects of congenital scoliosis.

    PubMed

    Li, Zheng; Yu, Xin; Shen, Jianxiong

    2015-04-01

    Growing evidence has proved that many aspects of our lifestyle and the environment contribute to the development of congenital disease. Congenital spinal deformities are due to anomalous development of the vertebrae including failure of formation and segmentation during embryogenesis. The causes of congenital scoliosis have not been fully identified. A variety of factors are implicated in the development of vertebral abnormalities. Previous studies have demonstrated that both genetics and environmental factors are implicated in the development of vertebral abnormalities. However, no specific cause for congenital scoliosis has been identified. In our review, we focus on the environmental factors for the development of congenital scoliosis. Various maternal exposures during pregnancy including hypoxia, alcohol use, vitamin deficiency, valproic acid, boric acid, and hyperthermia have been observed to be associated with the occurrence of congenital scoliosis. This review describes the major environmental contributors of congenital scoliosis with an emphasis on treatment aspects associated with environmental disposition in congenital scoliosis.

  8. Genetics Home Reference: congenital hyperinsulinism

    MedlinePlus

    ... of infancy Great Ormond Street Hospital for Children (UK) Merck Manual Consumer Version: Hypoglycemia Orphanet: Congenital isolated ... Diseases Congenital Hyperinsulinism International The Children's Hyperinsulinism Fund (UK) GeneReviews (1 link) Familial Hyperinsulinism ClinicalTrials.gov (1 ...

  9. 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

  10. Anterior subcutaneous transposition for persistent ulnar neuropathy after neurolysis.

    PubMed

    van Gent, Jort A N; Datema, Mirjam; Groen, Justus L; Pondaag, Willem; Eekhof, Job L A; Malessy, Martijn J A

    2017-03-01

    OBJECTIVE Little is known about optimal treatment if neurolysis for ulnar nerve entrapment at the elbow fails. The authors evaluated the clinical outcome of patients who underwent anterior subcutaneous transposition after failure of neurolysis of ulnar nerve entrapment (ASTAFNUE). METHODS A consecutive series of patients who underwent ASTAFNUE performed by a single surgeon between 2009 and 2014 was analyzed retrospectively. Preoperative and postoperative complaints in the following 3 clinical modalities were compared: pain and/or tingling, weakness, and numbness. Six-point satisfaction scores were determined on the basis of data from systematic telephonic surveys. RESULTS Twenty-six patients were included. The median age was 56 years (range 22-79 years). The median duration of complaints before ASTAFNUE was 23 months (range 8-78 months). The median interval between neurolysis and ASTAFNUE was 11 months (range 5-34 months). At presentation, 88% of the patients were experiencing pain and/or tingling, 46% had weakness, and 50% had numbness of the fourth and fifth fingers. Pain and/or tingling improved in 35%, motor function in 23%, and sensory disturbances in 19% of all the patients. Improvement in at least 1 of the 3 clinical modalities was found in 58%. However, a deterioration in 1 of the 3 modalities was noted in 46% of the patients. On the patient-satisfaction scale, 62% reported a good or excellent outcome. Patients with a good/excellent outcome were a median of 11 years younger than patients with a fair/poor outcome. No other factor was significantly related to satisfaction score. CONCLUSIONS A majority of the patients were satisfied after ASTAFNUE, even though their symptoms only partly resolved or even deteriorated. Older age is a risk factor for a poor outcome. Other factors that affect outcome might play a role, but they remain unidentified. One of these factors might be earlier surgical intervention. The modest results of ASTAFNUE should be mentioned when

  11. Leber's congenital amaurosis.

    PubMed

    Mizuno, K; Takei, Y; Sears, M L; Peterson, W S; Carr, R E; Jampol, L M

    1977-01-01

    An early stage of Leber's congenital amaurosis, characterized by white spots or lines in the fundus, occurred in two children. Light microscopic examination of eyes obtained from one child, a 16-month-old Japanese girl, revealed subretinal deposits corresponding to the white spots and lines in the fundus deposits. Light and electron microscopic examination of the eye showed distinctive changes in the outer retinal layers and choroid, while the inner retinal layers were nearly normal. Characteristic early lesions of congenital amaurosis appeared to be produced by deposits consisting of loose outer segments and apical processes of the pigmental epithelial cell and macrophages. Undifferentiation in the nuclei of the photoreceptor cell, the inner segment, the pigment epithelial cell, and the choriocapillaris were likely characteristics of the early changes of congenital amaurosis.

  12. Leber's congenital amaurosis.

    PubMed

    De Laey, J J

    1991-01-01

    Leber's congenital amaurosis is an autosomal recessive disorder, characterized by the onset of blindness before the age of 6 months, a variable fundus aspect and an absent or extremely pathological ERG. The disorder may be isolated or associated with systemic involvement, such as nephronophtisis (Senior-Loken syndrome), nephronophtisis, cone-shaped epiphyses of the hand and cerebellar ataxia (Saldino-Mainzer syndrome), vermis hypoplasia, oculomotor anomalies and respiratory problems in the neonatal period (Joubert syndrome) or cardiomyopathy. It should be differentiated from other forms or chorioretinal dystrophies (juvenile retinitis pigmentosa or congenital stationary night blindness), cortical blindness or maturation delay and metabolic disorders. Children with possible congenital Leber amaurosis should not only have a thorough ophthalmological examination, but should also be seen by a paediatrician experienced in metabolic disorders.

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

    PubMed Central

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

    2015-01-01

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

  14. A Valid Indication and the Effect of Bilateral Inferior Oblique Transposition on Recurrent or Consecutive Horizontal Deviation in Infantile Strabismus

    PubMed Central

    Ha, Suk-Gyu; Na, Gun-Hoo

    2017-01-01

    Purpose To evaluate the effects of bilateral inferior oblique transposition (BIOT) on horizontal deviation from primary position among patients with bilateral dissociated vertical deviation (DVD) associated with inferior oblique overaction (IOOA) in infantile strabismus. Methods Retrospective chart review was conducted among 19 patients with infantile strabismus. All patients had DVD and IOOA with consecutive or recurrent horizontal deviation and underwent modified BIOT surgery. Patients were divided into three subgroups: patients who underwent BIOT (BIOT group, n = 9) alone, BIOT with medial rectus recession or lateral rectus resection simultaneously (ET BIOT group, n = 6), or BIOT with lateral rectus recession or medial rectus resection simultaneously (XT BIOT group, n = 4). Postoperative angle of horizontal deviation (prism diopter, PD) and corrected magnitude of horizontal deviation (PD) at final visit after surgery were analyzed in each group. Results The mean age was 55.11 ± 21.05 months (range, 32 to 115). The mean follow-up period was 8.68 ± 2.87 months (range, 6 to 18). Preoperative horizontal deviation was 4.23 ± 5.99 PD (range, 0 to 16) in BIOT, −17.33 ± 6.76 PD (range, −30 to −10) in ET BIOT, and 17.50 ± 2.52 PD (range, 14 to 20) in XT BIOT. Esodeviation is represented by negative values. DVD and IOOA were reduced less than +1 in all patients. The corrected amount of horizontal deviation was 3.56 ± 5.18 PD (range, 0 to 16) in BIOT surgery alone and larger in XT BIOT (18.50 ± 3.41 PD) than in ET BIOT (12.33 ± 5.57 PD, p = 0.004). Conclusions Minimal exodeviation was corrected by BIOT alone. In addition, secondary eso- or exodeviation at great magnitudes should be corrected with proper horizontal muscle surgery along with BIOT. PMID:28367042

  15. Congenital Hemolytic Anemia.

    PubMed

    Haley, Kristina

    2017-03-01

    Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated.

  16. Congenital brain infections.

    PubMed

    Arbelaez, Andres; Restrepo, Feliza; Davila, Jorge; Castillo, Mauricio

    2014-06-01

    Pediatric congenital intracranial infections are a group of different and important entities that constitute a small percentage of all pediatric infections. The causal factors and clinical presentations are different in children compared with adults. They require early recognition because delay diagnosis and initiation of treatment may have catastrophic consequences. Despite improvements in prenatal screening, vaccine safety, and antibiotics, infections of the central nervous system remain an important cause of neurological disabilities worldwide. This article reviews the most common congenital infections and their imaging findings.

  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. Congenital Toxoplasmosis: A Review.

    PubMed

    Hampton, Marissa Martinez

    2015-01-01

    Acute infection of toxoplasmosis during pregnancy is detrimental to the developing fetus. In the United States, approximately 1 in 10,000 live births are affected by congenital toxoplasmosis. Although multifactorial in etiology, maternal infection is primarily attributed to the consumption of contaminated meat or water. Infection and transmission to the fetus may result in devastating neurologic impairment. Screening methods for all pregnant women should be implemented in routine prenatal care. This article will highlight the inherent dangers of congenital toxoplasmosis, while including general care of the fetus for prevention of transmission, medical management, and long-term outcomes.

  19. Assessment for congenital long QT syndrome.

    PubMed

    Heidenreich, Wayne F

    2003-01-01

    A 29-year-old male presented for an evaluation of his risk for having congenital long QT syndrome. Despite being asymptomatic and having a normal QTc interval on the resting ECG, a suggestive family history was an indication for a thorough cardiac evaluation. A geneticist reviewed this workup and recommended against genetic testing. While up to 10% of affected carriers of a congenital long QT syndrome gene mutation can be asymptomatic with a normal QTc, consideration of all of the clinical factors allowed for further risk stratification. The evaluation of an ECG for the long QT syndrome includes calculating a corrected QT interval for the heart rate and assessing the T-waves for morphology associated with this syndrome.

  20. Management of congenitally missing second premolars in a growing child

    PubMed Central

    Jha, Padmanabh; Jha, Mesha

    2012-01-01

    The second premolars have the highest incidence of congenital absence, after the third molars. The problem resides not in the prevalence of congenitally missing premolars but in the selection of a treatment plan that will yield the best results over the long term. The present study reports a case of a 14 year old female patient with bilaterally congenitally missing second mandibular premolars with associated crowding of teeth. The case has been managed using a multi-speciality approach, in which both deciduous mandibular second molars were sectioned and the distal half retained. The retained half was prepared to receive a full coverage restoration which was contoured as a premolar. The space created was then utilized to correct the crowding by fixed orthodontics. A two year follow up shows retained distal half of the deciduous mandibular second molar with correction of crowding and space closure. PMID:22557822

  1. Management of congenitally missing second premolars in a growing child.

    PubMed

    Jha, Padmanabh; Jha, Mesha

    2012-04-01

    The second premolars have the highest incidence of congenital absence, after the third molars. The problem resides not in the prevalence of congenitally missing premolars but in the selection of a treatment plan that will yield the best results over the long term. The present study reports a case of a 14 year old female patient with bilaterally congenitally missing second mandibular premolars with associated crowding of teeth. The case has been managed using a multi-speciality approach, in which both deciduous mandibular second molars were sectioned and the distal half retained. The retained half was prepared to receive a full coverage restoration which was contoured as a premolar. The space created was then utilized to correct the crowding by fixed orthodontics. A two year follow up shows retained distal half of the deciduous mandibular second molar with correction of crowding and space closure.

  2. Adult Congenital Heart Association

    MedlinePlus

    ... my congenital heart … Read More Let's Talk About Love... BY Kelly DiMaggio Being in love and in a relationship is one of the ... are born they have … Read More Learning to Love the Scar BY Clare Almand I wrote about ...

  3. 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 ...

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

    PubMed Central

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

    2016-01-01

    Transposition mutagenesis is a powerful tool to identify the function of genes, reveal essential genes and generally to unravel the genetic basis of living organisms. However, transposon-mediated mutagenesis has only been successfully applied to a limited number of archaeal species and has never been reported in Thermococcales. Here, we report random insertion mutagenesis in the hyperthermophilic archaeon Pyrococcus furiosus. The strategy takes advantage of the natural transformability of derivatives of the P. furiosus COM1 strain and of in vitro Mariner-based transposition. A transposon bearing a genetic marker is randomly transposed in vitro in genomic DNA that is then used for natural transformation of P. furiosus. A small-scale transposition reaction routinely generates several hundred and up to two thousands transformants. Southern analysis and sequencing showed that the obtained mutants contain a single and random genomic insertion. Polyploidy has been reported in Thermococcales and P. furiosus is suspected of being polyploid. Yet, about half of the mutants obtained on the first selection are homozygous for the transposon insertion. Two rounds of isolation on selective medium were sufficient to obtain gene conversion in initially heterozygous mutants. This transposition mutagenesis strategy will greatly facilitate functional exploration of the Thermococcales genomes. PMID:27824140

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

    PubMed Central

    Chalmers, R M; Kleckner, N

    1996-01-01

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

  6. 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.

  7. 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…

  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. 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

  10. Target DNA bending by the Mu transpososome promotes careful transposition and prevents its reversal

    PubMed Central

    Fuller, James R; Rice, Phoebe A

    2017-01-01

    The transposition of bacteriophage Mu serves as a model system for understanding DDE transposases and integrases. All available structures of these enzymes at the end of the transposition reaction, including Mu, exhibit significant bends in the transposition target site DNA. Here we use Mu to investigate the ramifications of target DNA bending on the transposition reaction. Enhancing the flexibility of the target DNA or prebending it increases its affinity for transpososomes by over an order of magnitude and increases the overall reaction rate. This and FRET confirm that flexibility is interrogated early during the interaction between the transposase and a potential target site, which may be how other DNA binding proteins can steer selection of advantageous target sites. We also find that the conformation of the target DNA after strand transfer is involved in preventing accidental catalysis of the reverse reaction, as conditions that destabilize this conformation also trigger reversal. DOI: http://dx.doi.org/10.7554/eLife.21777.001 PMID:28177285

  11. Transposition of the great vessels: a series of three cases with a review of the literature.

    PubMed

    Yarrow, S; Russell, R

    2000-07-01

    Improvements in surgical techniques have led to increased survival in transposition of the great vessels. We present three women who required anaesthetic management for labour analgesia, instrumental delivery and evacuation of retained products; the literature is reviewed with regard to anaesthetic techniques and maternal outcome, and recommendations made for the management of this increasingly common condition.

  12. Calcified thrombus of the inferior vena cava in transposition of the great vessels.

    PubMed

    Velasquez, G; D'Souza, V J; Glass, T A; Sumner, T E; Formanek, A G

    1986-01-01

    Calcified thrombus of the inferior vena cava (IVC) in children is an entity usually not associated with significant complications. The possibility of pulmonary embolism from the soft thrombus, however, has been suggested but never reported. We give an account of a child with transposition of the great vessels who suffered embolization from a calcified thrombus in the IVC that entered the systemic circulation.

  13. Enterococcus durans endocarditis in a patient with transposition of the great vessels.

    PubMed

    Stepanović, S; Jovanović, M; Lavadinović, L; Stosović, B; Pelemis, M

    2004-03-01

    A case of native valve endocarditis caused by Enterococcus durans in a patient with transposition of the great vessels is reported. The patient was treated initially with gentamicin and ceftriaxone; after isolation of enterococci, ceftriaxone was switched to ampicillin. The only virulence factors established in the strain were haemolytic activity and biofilm formation.

  14. [Subtotal esophagus resection and stomach tube transposition in laryngectomized patients without loss of esophageal speech].

    PubMed

    Lörken, M; Jansen, M; Schumpelick, V

    1999-03-01

    We report the case of a 71-year-old patient who had a laryngectomy 16 years ago because of a laryngeal carcinoma and achieved voice restoration by esophageal speech. Now a squamous cell carcinoma of the esophagus had been diagnosed and was treated with a subtotal esophagectomy, stomach transposition, and collar anastomosis. Postoperatively, the patient remained esophageal speech without loss of quality.

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

    PubMed

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

    2006-08-01

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

  16. 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.

  17. 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.

  18. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.

    PubMed

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

    2011-10-01

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

  19. Congenital omental cyst

    PubMed Central

    Gupta, Rakesh Kumar; Sah, Suresh; Sah, Panna Lal; Shah, Birendra Prasad

    2012-01-01

    Congenital omental cysts are rare intra-abdominal pathology, which are difficult to diagnose preoperatively; as such a high index of suspicion is required for accurate preoperative diagnosis. We present a case of congenital omental cyst in a 3-year-old girl who presented with huge abdominal distension. We performed diagnostic examinations including ultrasonography and CT of the abdomen. An omental cyst was diagnosed because of its position and connection to the surrounding tissues. She was operated and cyst was excised completely. Histological examination revealed an omental cyst with endothelial lining and haemorrhagic fluid inside. She had an uneventful recovery and doing well, without recurrence at follow-up of 24 months. Clinicians must rigorously pursue a preoperative diagnosis, as it may prevent a surprise upon laparotomy and result in proper management. PMID:22865812

  20. Congenital Orbital Teratoma

    PubMed Central

    Pellerano, Fernando; Guillermo, Elvis; Garrido, Gloreley; Berges, Pedro

    2017-01-01

    We report a case of congenital orbital teratoma. A 3-day-old male, born at 39 weeks’ gestation without relevant prenatal history, presented with a large vascularized proptotic mass distorting the left midface. Laboratory studies showed elevated serum alpha-fetoprotein (12,910 ng/ml). Computed tomography showed a multiloculated heterogeneous lesion composed of hypodense and hyperdense calcified areas encompassing the whole orbital cavity with expansion of the bony walls, as well as forward displacement and compression of the eyeball without extension to surrounding structures. Clinical, imaging and laboratory features were consistent with congenital orbital teratoma. Due to pronounced proptosis with exposure keratopathy and corneal perforation, no motility of the globe and no vision in the affected eye in a resource-limited setting, the patient underwent orbital exenteration. Histopathological examination confirmed the diagnosis of mature cystic teratoma. We describe the clinical course, radiographic and histopathological findings of this rare orbital tumor. PMID:28275597

  1. Congenital Orbital Teratoma.

    PubMed

    Pellerano, Fernando; Guillermo, Elvis; Garrido, Gloreley; Berges, Pedro

    2017-01-01

    We report a case of congenital orbital teratoma. A 3-day-old male, born at 39 weeks' gestation without relevant prenatal history, presented with a large vascularized proptotic mass distorting the left midface. Laboratory studies showed elevated serum alpha-fetoprotein (12,910 ng/ml). Computed tomography showed a multiloculated heterogeneous lesion composed of hypodense and hyperdense calcified areas encompassing the whole orbital cavity with expansion of the bony walls, as well as forward displacement and compression of the eyeball without extension to surrounding structures. Clinical, imaging and laboratory features were consistent with congenital orbital teratoma. Due to pronounced proptosis with exposure keratopathy and corneal perforation, no motility of the globe and no vision in the affected eye in a resource-limited setting, the patient underwent orbital exenteration. Histopathological examination confirmed the diagnosis of mature cystic teratoma. We describe the clinical course, radiographic and histopathological findings of this rare orbital tumor.

  2. 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

  3. [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.

  4. Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.

    PubMed

    Mendes, Sílvia; Beselga, Diana; Campos, Sónia; Neves, Arminda; Campos, Joana; Carvalho, Sílvia; Silva, Eduardo; Castro Sousa, João Paulo

    2015-01-01

    Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD).

  5. Leber congenital amaurosis.

    PubMed

    Perrault, I; Rozet, J M; Gerber, S; Ghazi, I; Leowski, C; Ducroq, D; Souied, E; Dufier, J L; Munnich, A; Kaplan, J

    1999-10-01

    Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born to affected parents. In 1995, we localized the first disease causing gene, LCA1, to chromosome 17p13 and confirmed the genetic heterogeneity. In 1996, we ascribed LCA1 to mutations in the photoreceptor-specific guanylate cyclase gene (retGC1). RetGC1 is an essential protein implicated in the phototransduction cascade, especially in the recovery of the dark state after the excitation process of photoreceptor cells by light stimulation. In 1997, mutations in a second gene were reported in LCA, the RPE65 gene, which is the first specific retinal pigment epithelium gene. The protein RPE65 is implicated in the metabolism of vitamin A, the precursor of the photoexcitable retinal pigment (rhodopsin). Finally, a third gene, CRX, implicated in photoreceptor development, has been suspected of causing a few cases of LCA. Taken together, these three genes account for only 27% of LCA cases in our series. The three genes encode proteins that are involved in completely different physiopathologic pathways. Based on these striking differences of physiopathologic processes, we reexamined all clinical physiopathological discrepancies and the results strongly suggested that retGC1 gene mutations are responsible for congenital stationary severe cone-rod dystrophy, while RPE65 gene mutations are responsible for congenital severe but progressive rod-cone dystrophy. It is of tremendous importance to confirm and to refine these genotype-phenotype correlations on a large scale in order to anticipate the final outcome in a blind infant, on the one hand, and to further guide genetic studies in older patients on the other hand.

  6. Congenital amaurosis of Leber.

    PubMed

    Gillespie, F D

    1966-05-01

    In two families with congenital amaurosis of Leber, keratoglobus was found in all affected members and posterior subcapsular cataracts in most of them. Consanguinity was present in one family. Pathologic findings in one enucleated eye were presented. The literature on this disease was briefly reviewed. Whether the disease is a definite clinical or genetic entity and whether it might be an agenesis or an abiotrophy, or both, were discussed.

  7. Congenital hearing loss.

    PubMed

    Korver, Anna M H; Smith, Richard J H; Van Camp, Guy; Schleiss, Mark R; Bitner-Glindzicz, Maria A K; Lustig, Lawrence R; Usami, Shin-Ichi; Boudewyns, An N

    2017-01-12

    Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing screening programmes enable early detection; early intervention will prevent delays in speech and language development and has long-lasting beneficial effects on social and emotional development and quality of life. A diagnosis of hearing loss is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus infection, are also a common risk factor for hearing loss. Genetic causes probably account for the majority of cases in developed countries; mutations can affect any component of the hearing pathway, in particular, inner ear homeostasis (endolymph production and maintenance) and mechano-electrical transduction (the conversion of a mechanical stimulus into electrochemical activity). Once the underlying cause of hearing loss is established, it might direct therapeutic decision making and guide prevention and (genetic) counselling. Management options include specific antimicrobial therapies, surgical treatment of craniofacial abnormalities and implantable or non-implantable hearing devices. An improved understanding of the pathophysiology and molecular mechanisms that underlie hearing loss and increased awareness of recent advances in genetic testing will promote the development of new treatment and screening strategies.

  8. [Congenital insensitivity to pain].

    PubMed

    Popko, Janusz; Karpiński, Michał; Guszczyn, Tomasz

    2014-02-01

    Congenital insensitivity to pain belongs to rare diseases called hereditary sensory neuropathy (HSN). The disturbance of sense and secondary harms are creating clinical picture. The aim of this report was to describe therapeutic problems with which we met with a three siblings with congenital insensitivity to pain. The authors have described three children with congenital insensitivity to pain. The disease was diagnosed at the age of 3-5. These children painlessly have broken their lower limbs. These fractures were late diagnosed what resulted in a badly healed deformation of legs. For this reason, the right knee of the oldest boy had to be stiffened. This boy had also late diagnosed the left hip luxation, and hematomas had arisen, which become filled with pus. The boy was in sepsis and a dramatic life-and-death struggle was performed. A purulent focuses were removed from abdomen and femoral head was also resected. The other two siblings had fractures and infections, but not such severe as the oldest boy. It is well known that a causal treatment of this disease in unknown. Patients must learn to avoid mechanical and thermal trauma. It is the only way to prevent complications of this disease.

  9. Transposition of the great vessels. Pathophysiologic considerations based upon a study of the lungs.

    PubMed

    Ferencz, C

    1966-02-01

    A microscopic study of the lungs of 106 patients with transposition of the great vessels has revealed early and severe hypertensive alterations in the pulmonary arteries. These striking changes, associated in almost all instances with normal pulmonary veins, indicate a state of high resistance of the arterial bed. Pulmonary arterial damage was, in general, most advanced in the patients with a large ventricular septal defect, but in spite of this these were the patients who lived longest. It seemed obvious, therefore, that their relatively favorable course was due to a greater beneficial than damaging effect of the ventricular septal defect. Consideration of these findings in the light of known physiologic data has led to a clarification of the physiologic variations of the transposition circulation. Using the recognized physiologic definitions of flows and shunts the transposition circulation is characterized by a diminished effective flow and a bidirectional but predominantly left-to-right shunt. The effect of a large intracardiac communication is to increase the effective flow and to lessen the shunts. With increasing size of the intracardiac communication the spectrum is completed when the circulatory characteristics of a single ventricle are reached in which the anatomic position of the great vessels becomes physiologically insignificant. The effect of a common systolic ejectile force in patients with a large ventricular septal defect will be similar in the transposition circulation and in the normal circulation. Three physiologic states are possible which depend upon the relative magnitude of the systemic and pulmonary resistances. The early appearance and malignant nature of the hypertensive alterations in the pulmonary arteries of patients with transposition of the great vessels suggest that the impact upon the lungs of high blood flow and pressure is aggravated by arterial vasoconstriction. This may be initiated by anoxia and a lowered blood pH. Elevation

  10. Complicated Congenital Dislocation of the Knee: A Case Report

    PubMed Central

    Madadi, Firooz; Tahririan, Mohammad A.; Karami, Mohsen; Madadi, Firoozeh

    2016-01-01

    Congenital dislocation of the knee (CDK) is a rare disorder. We report the case of a 7-year-old girl with bilateral knee stiffness, marked anterior bowing of both legs, and inability to walk without aid. Radiologic investigation revealed bilateral knee joint dislocation accompanied by severe anterior bowing of both tibia proximally and posterior bowing of both femur distally, demonstrating a complicated congenital knee dislocation. Two-staged open reduction with proximal tibial osteotomy was performed to align the reduced knee joints. The patient was completely independent in her daily activities after surgical correction. PMID:27847857

  11. 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.

  12. [Congenital knee dislocation: case report].

    PubMed

    Arvinius, C; Luque, R; Díaz-Ceacero, C; Marco, F

    2016-01-01

    Congenital knee dislocation is an infrequent condition with unknown etiology. In some cases it occurs as an isolated condition, while in others it coexists with associated conditions or syndromes. The treatment of congenital knee dislocation is driven by the severity and flexibility of the deformity. The literature includes from serial casting or the Pavlik harness to quadriceps tendon plasty or femoral osteotomies. We report herein the case of a congenital dislocation treated with serial casting with a good outcome.

  13. Radiology of congenital heart disease

    SciTech Connect

    Amplatz, K.

    1986-01-01

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

  14. Neuropsychological and Psychiatric Outcomes in Dextro-Transposition of the Great Arteries across the Lifespan: A State-of-the-Art Review.

    PubMed

    Kasmi, Leila; Bonnet, Damien; Montreuil, Michèle; Kalfa, David; Geronikola, Nikoletta; Bellinger, David C; Calderon, Johanna

    2017-01-01

    Advances in prenatal diagnosis, perioperative management, and postoperative care have dramatically increased the population of survivors of neonatal and infant heart surgery. The high survival rate of these patients into adulthood has exposed the alarming prevalence of long-term neuropsychological and psychiatric morbidities. Dextro-transposition of the great arteries (d-TGA) is one of the most extensively studied cyanotic congenital heart defect (CHD) with regard to neurodevelopmental outcomes. Landmark studies have described a common neurodevelopmental and behavioral phenotype associated with d-TGA. Children with d-TGA display impairments in key neurocognitive areas, including visual-spatial and fine motor abilities, executive functioning, processing speed, and social cognition. As they grow older, they may face additional challenges with a worsening of deficits in higher order cognitive skills, problems in psychosocial adjustment and a higher-than-expected rate of psychiatric disorders, such as attention-deficit hyperactivity disorder, depression, and anxiety. The aim of this review is to summarize the available recent data on neuropsychological and psychiatric outcomes in individuals with d-TGA after the arterial switch operation. We present findings within a life-span perspective, with a particular emphasis on the emerging literature on adolescent and young adult outcomes. Finally, we propose avenues for future research in the CHD adult neuropsychology field. Among these avenues, we explore the potential mechanisms by which pediatric neurodevelopmental impairments may have lifelong adverse effects as well as alternative interventions that could optimize outcomes.

  15. Neuropsychological and Psychiatric Outcomes in Dextro-Transposition of the Great Arteries across the Lifespan: A State-of-the-Art Review

    PubMed Central

    Kasmi, Leila; Bonnet, Damien; Montreuil, Michèle; Kalfa, David; Geronikola, Nikoletta; Bellinger, David C.; Calderon, Johanna

    2017-01-01

    Advances in prenatal diagnosis, perioperative management, and postoperative care have dramatically increased the population of survivors of neonatal and infant heart surgery. The high survival rate of these patients into adulthood has exposed the alarming prevalence of long-term neuropsychological and psychiatric morbidities. Dextro-transposition of the great arteries (d-TGA) is one of the most extensively studied cyanotic congenital heart defect (CHD) with regard to neurodevelopmental outcomes. Landmark studies have described a common neurodevelopmental and behavioral phenotype associated with d-TGA. Children with d-TGA display impairments in key neurocognitive areas, including visual–spatial and fine motor abilities, executive functioning, processing speed, and social cognition. As they grow older, they may face additional challenges with a worsening of deficits in higher order cognitive skills, problems in psychosocial adjustment and a higher-than-expected rate of psychiatric disorders, such as attention-deficit hyperactivity disorder, depression, and anxiety. The aim of this review is to summarize the available recent data on neuropsychological and psychiatric outcomes in individuals with d-TGA after the arterial switch operation. We present findings within a life-span perspective, with a particular emphasis on the emerging literature on adolescent and young adult outcomes. Finally, we propose avenues for future research in the CHD adult neuropsychology field. Among these avenues, we explore the potential mechanisms by which pediatric neurodevelopmental impairments may have lifelong adverse effects as well as alternative interventions that could optimize outcomes. PMID:28393063

  16. Glomuvenous malformation in a boy with transposition of the great vessels: a case report and review of literature.

    PubMed

    Chen, Amy Y Y; Eide, Melody; Shwayder, Tor

    2009-01-01

    We report a case of glomuvenous malformation (GVM) in an 11-year-old boy with a history of transposition of the great vessels. The glomulin gene was discovered in 1999, and multiple mutations have been identified with some of the mutations resulting in GVM. The molecular genetics, clinical presentation, histopathology, differential diagnosis, and management of GVM are reviewed. To our knowledge, no case of glomuvenous malformation in the setting of transposition of the great vessels has ever been reported in the literature.

  17. 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

  18. 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

  19. 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.

  20. Feasibility of large-current capacity YBCO conductors with on-demand transposition

    NASA Astrophysics Data System (ADS)

    Yanagi, Nagato; Mito, Toshiyuki; Noguchi, Hiroki; Terazaki, Yoshiro; Tamura, Hitoshi; Iwakuma, Masataka; Aoki, Yuji; Izumi, Teruo; Shiohara, Yuh

    We propose a new idea for fabricating a large-current capacity YBCO conductor having a Roebel-type transposition formed by joining tapes. If the joule heating generated by joints is smaller than other heat sources, such as AC losses, this type of conductor may work as a quasi-superconductor. We note that the Roebel-type transposition can be included on demand in coil windings, not over the whole conductor length but rather locally, such as at terminals and coil edges to secure uniform current distribution among tapes. We fabricated a 1.2 m-long conductor sample based on this idea using 20 YBCO tapes. The Roebel-assembled tapes having joints with a 600-mm pitch length for meandering were imbedded in a copper jacket and soldered. The sample was tested in liquid nitrogen under the self magnetic field and the critical current was measured. The joint resistance was evaluated and compared with the expected value.

  1. Lateral femoral cutaneous nerve transposition: Renaissance of an old concept in the light of new anatomy.

    PubMed

    Hanna, Amgad S

    2017-04-01

    Meralgia paresthetica causes pain in the anterolateral thigh. Most surgical procedures involve nerve transection or decompression. We conducted a cadaveric study to determine the feasibility of lateral femoral cutaneous nerve (LFCN) transposition. In three cadavers, the LFCN was exposed in the thigh and retroperitoneum. The two layers of the LFCN canal superficial and deep to the nerve were opened. The nerve was then mobilized medially away from the ASIS, by cutting the septum medial to sartorius. It was possible to mobilize the nerve for 2 cm medial to the ASIS. The nerve acquired a much straighter course with less tension. A new technique of LFCN transposition is presented here as an anatomical feasibility study. The surgical technique is based on the new understanding of the LFCN canal. Clin. Anat. 30:409-412, 2017. © 2017 Wiley Periodicals, Inc.

  2. DNA recognition and the precleavage state during single-stranded DNA transposition in D. radiodurans

    PubMed Central

    Hickman, Alison Burgess; James, Jeffrey A; Barabas, Orsolya; Pasternak, Cécile; Ton-Hoang, Bao; Chandler, Michael; Sommer, Suzanne; Dyda, Fred

    2010-01-01

    Bacterial insertion sequences (ISs) from the IS200/IS605 family encode the smallest known DNA transposases and mobilize through single-stranded DNA transposition. Transposition by one particular family member, ISDra2 from Deinococcus radiodurans, is dramatically stimulated upon massive γ irradiation. We have determined the crystal structures of four ISDra2 transposase/IS end complexes; combined with in vivo activity assays and fluorescence anisotropy binding measurements, these have revealed the molecular basis of strand discrimination and transposase action. The structures also show that previously established structural rules of target site recognition that allow different specific sequences to be targeted are only partially conserved among family members. Furthermore, we have captured a fully assembled active site including the scissile phosphate bound by a divalent metal ion cofactor (Cd2+) that supports DNA cleavage. Finally, the observed active site rearrangements when the transposase binds a metal ion in which it is inactive provide a clear rationale for metal ion specificity. PMID:20890269

  3. Hip transposition as a universal surgical procedure for periacetabular tumors of the pelvis.

    PubMed

    Gebert, Carsten; Gosheger, Georg; Winkelmann, Winfried

    2009-03-01

    Surgical treatment of pelvic tumors represents one of the most challenging problems in musculoskeletal oncology, especially in the periacetabular region. Because of the complex anatomy and demanding biomechanical situation, surgery leads to a considerable disability while all possible types of reconstruction are often associated with high complication rates. Nevertheless, it is known that wide resection of the tumor is one of the key points for long-term survival in sarcoma therapy. Therefore, hip transposition was established in our clinic as a universal tool for periacetabular tumors excelling in small foreign parts and resulting in acceptable complication rates with good functional outcome. The following article gives an overview of the technique and the indications of different types of hip transposition, which were developed from the first procedure, described and published by Winkelmann in 1988.

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

    PubMed

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

    2013-12-01

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

  5. Vertical muscle transposition with silicone band belting in VI nerve palsy

    PubMed Central

    Freitas, Cristina

    2016-01-01

    A woman aged 60 years developed a Millard-Gubler syndrome after a diagnosis of a cavernous angioma in the median and paramedian areas of the pons. In this context, she presented a right VI nerve palsy, right conjugate gaze palsy, facial palsy and left hemiparesis. To improve the complete VI nerve palsy, we planned a modified transposition approach, in which procedure we made a partial transposition of vertical rectus with a silicone band that was fixated posteriorly. After the procedure, the patient gained the ability to slightly abduct the right eye. We found no compensatory torticollis in the primary position of gaze. There was also an improvement of elevation and depression movements of the right eye. We obtained satisfactory results with a theoretically reversible technique, which is adjustable intraoperatively with no need of muscle detachment, preventing anterior segment ischaemia and allowing simultaneous recession of the medial rectus muscles, if necessary. PMID:27974341

  6. Transposition of the yeast retroviruslike element Ty3 is dependent on the cell cycle.

    PubMed Central

    Menees, T M; Sandmeyer, S B

    1994-01-01

    Host cell cycle genes provide important functions to retroviruses and retroviruslike elements. To define some of these functions, the cell cycle dependence of transposition of the yeast retroviruslike element Ty3 was examined. Ty3 is unique among retroviruslike elements because of the specificity of its integration, which occurs upstream of genes transcribed by RNA polymerase III. A physical assay for Ty3 transposition which takes advantage of this position-specific integration was developed. The assay uses PCR to amplify a product of Ty3 integration into a target plasmid that carries a modified tRNA gene. By using the GAL1 upstream activating sequence to regulate expression of Ty3, transposition was detected within one generation of cell growth after Ty3 transcription was initiated. This physical assay was used to show that Ty3 did not transpose when yeast cells were arrested in G1 during treatment with the mating pheromone alpha-factor. The restriction of transposition was not due to changes in transcription of either Ty3 or tRNA genes or to aspects of the mating pheromone response unrelated to cell cycle arrest. The block of the Ty3 life cycle was reversed when cells were released from G1 arrest. Examination of Ty3 intermediates during G1 arrest indicated that Ty3 viruslike particles were present but that reverse transcription of the Ty3 genomic RNA into double-stranded DNA had not occurred. In G1, the Ty3 life cycle is blocked after particle assembly but before the completion of reverse transcription. Images PMID:7969160

  7. Prenatal exposure to oral contraceptives and transposition of the great vessels in man.

    PubMed

    Yasuda, M; Miller, J R

    1975-12-01

    The hypothesis that female sex hormones in the first trimester of pregnancy are causally related to transposition of the great vessels (TGV) was tested by a retrospective study of 135 cases of TGV ascertained through the British Columbia Health Surveillance Registry. During 1962-1972 there was no increase in the annual incidence rates of TGV. Analysis of questionnaires completed on 58 cases revealed no definite association between inadvertent use of oral contraceptives or other sex hormones during early pregnancy and TGV.

  8. ISEcp1-mediated transposition of qnrB-like gene in Escherichia coli.

    PubMed

    Cattoir, Vincent; Nordmann, Patrice; Silva-Sanchez, Jesus; Espinal, Paula; Poirel, Laurent

    2008-08-01

    A novel QnrB-like plasmid-mediated resistance determinant, QnrB19, was identified from an Escherichia coli clinical isolate from Colombia. Its gene was associated with an ISEcp1-like insertion element that did not act as a promoter for its expression. Using an in vitro model of transposition, we showed that the ISEcp1-like element was able to mobilize the qnrB19 gene.

  9. Lip commissure to eyelid transposition for repair of feline eyelid agenesis.

    PubMed

    Whittaker, C J G; Wilkie, David A; Simpson, D J; Deykin, A; Smith, J S; Robinson, C L

    2010-05-01

    Repair of eyelid agenesis in nine eyes of five cats using a lip commissure to eyelid transposition is described. The procedure is a modification of the technique described by Pavletic for reconstruction of the canine inferior eyelid and provides skin, mucosa, a mucocutaneous junction, and muscle to reconstruct the superior and inferior eyelid and lateral canthus. The technique was successful in all eyes and resulted in improvement in corneal protection, cosmesis and in several cats a return of the palpebral reflex.

  10. ISEcp1-Mediated Transposition of qnrB-Like Gene in Escherichia coli▿

    PubMed Central

    Cattoir, Vincent; Nordmann, Patrice; Silva-Sanchez, Jesus; Espinal, Paula; Poirel, Laurent

    2008-01-01

    A novel QnrB-like plasmid-mediated resistance determinant, QnrB19, was identified from an Escherichia coli clinical isolate from Colombia. Its gene was associated with an ISEcp1-like insertion element that did not act as a promoter for its expression. Using an in vitro model of transposition, we showed that the ISEcp1-like element was able to mobilize the qnrB19 gene. PMID:18519717

  11. Molecular and Genetic Studies of Congenital Myopathies

    ClinicalTrials.gov

    2016-12-08

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

  12. 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

  13. 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.

  14. Knowledge and Awareness of Congenital Cytomegalovirus Among Women

    DOE PAGES

    Jeon, Jiyeon; Victor, Marcia; Adler, Stuart P.; ...

    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

  15. [Complex diagnosis of congenital cranial dysostosis in children].

    PubMed

    Iakubov, R K; Azimov, M I

    2002-01-01

    Ten patients (aged 3-15 years) with congenital cranial dysostosis were examined by a pediatrician, geneticist, gastroenterologist, neuropathologist, ophthalmologist, endocrinologist, and orthopaedist. In addition to the clinical signs characteristic of hereditary multiple developmental defects, the study revealed changes in the jaws and temporomandibular joint and local factors promoting the progress of deformations of the jaws. Manifest and inapparent pathological changes and dysfunctions in gastrointestinal organs were paralleled by dysfunctions of the central and autonomic nervous systems, risk of maxillofacial and general deformations, and signs of congenital disorders in calcium, lactic acid, and pyridoxine metabolism. The results necessitate analyses of the blood and urine and development of new methods for the diagnosis of congenital cranial dysostosis and improvement of methods for the correction of this condition.

  16. 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

  17. ELBOW ULNAR NEUROPATHY: TREATMENT BY ANTERIOR TRANSPOSITION OF THE ULNAR NERVE

    PubMed Central

    Neder, Antonio Tufi; Alves, Regina de Azevedo; Pardini, Arlindo Gomes; Riberto, Marcelo; Mazer, Milton

    2016-01-01

    ABSTRACT Objectives: Retrospective clinical evaluation of 31 patients who underwent ulnar nerve decompression at the elbow and subcutaneous anterior transposition. Methods: From January 2000 to December 2013, 71 patients underwent subcutaneous anterior transposition of the ulnar nerve. Thirty-one patients returned for evaluation. The mean follow-up period was 60 months. Patients were evaluated for the degree of satisfaction after surgery, paresthesia, pain, Tinel sign, Froment test and sensitivity test by esthesiometer, muscle strength of the intrinsic muscles and deep flexor of the fifth digit, visual analogic pain scale (VAS) and were subjected to the QuickDash questionnaire. Results: Thirty-nine per cent of patients had compression on the right side and 61% on the left side. Sixty-one percent were idiopathic, 35% post traumatic and 3% had Poems syndrome. Forty-eight per cent of patients were very much satisfied after surgery and 52% were satisfied. Forty-eight per cent had paresthesia after surgery and 52% did not. Conclusion: The ulnar neurolysis of the cubital tunnel with anterior subcutaneous transposition is a safe and effective technique for treating idiopathic or post-traumatic compressive neuropathy, with high success rate and excellent function for activities of daily living. Level of Evidence IV, Case Series. PMID:28243170

  18. 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

  19. Efficient transfer of two large secondary metabolite pathway gene clusters into heterologous hosts by transposition

    PubMed Central

    Fu, Jun; Wenzel, Silke C.; Perlova, Olena; Wang, Junping; Gross, Frank; Tang, Zhiru; Yin, Yulong; Stewart, A. Francis; Zhang, Youming

    2008-01-01

    Horizontal gene transfer by transposition has been widely used for transgenesis in prokaryotes. However, conjugation has been preferred for transfer of large transgenes, despite greater restrictions of host range. We examine the possibility that transposons can be used to deliver large transgenes to heterologous hosts. This possibility is particularly relevant to the expression of large secondary metabolite gene clusters in various heterologous hosts. Recently, we showed that the engineering of large gene clusters like type I polyketide/nonribosomal peptide pathways for heterologous expression is no longer a bottleneck. Here, we apply recombineering to engineer either the epothilone (epo) or myxochromide S (mchS) gene cluster for transpositional delivery and expression in heterologous hosts. The 58-kb epo gene cluster was fully reconstituted from two clones by stitching. Then, the epo promoter was exchanged for a promoter active in the heterologous host, followed by engineering into the MycoMar transposon. A similar process was applied to the mchS gene cluster. The engineered gene clusters were transferred and expressed in the heterologous hosts Myxococcus xanthus and Pseudomonas putida. We achieved the largest transposition yet reported for any system and suggest that delivery by transposon will become the method of choice for delivery of large transgenes, particularly not only for metabolic engineering but also for general transgenesis in prokaryotes and eukaryotes. PMID:18701643

  20. The effect of anterior transposition of the inferior oblique muscle on eyelid configuration and function

    PubMed Central

    Göncü, Tuğba; Çakmak, Sevim; Akal, Ali; Oğuz, Halit

    2016-01-01

    Purpose: To evaluate the alteration of lower lid configuration and function with anterior transposition surgery of the inferior oblique (IO) muscle. Patients and Methods: A prospective clinical trial was conducted on a consecutive series of patients underwent anterior transposition of the IO as a sole operation. All patients received a thorough ophthalmic examination 1 day before and 3 months after surgery. Output parameters were consisted of palpebral fissure, margin reflex distance 1–2, lower lid function, hertel value, and lower lid crease. The differences of the collected data were calculated for statistical significance by using the Wilcoxon test. Results: A total of 19 eyes of 16 consecutive patients were included. The median preoperative grade of IO overaction was 3.5 (ranging from 3 to 4), which decreased to 0 (ranging from 0 to 2) postoperatively (P < 0.05). No significant change was observed in all parameters 3 months postoperatively (P > 0.05). Conclusion: In this study, no significant effect on lower lid configuration and function was observed following IO anterior transposition in which the disinserted muscle was placed posterior to inferior rectus insertion. PMID:26953021

  1. Character Decomposition and Transposition Processes of Chinese Compound Words in Rapid Serial Visual Presentation

    PubMed Central

    Cao, Hong-Wen; Yang, Ke-Yu; Yan, Hong-Mei

    2017-01-01

    Character order information is encoded at the initial stage of Chinese word processing, however, its time course remains underspecified. In this study, we assess the exact time course of the character decomposition and transposition processes of two-character Chinese compound words (canonical, transposed, or reversible words) compared with pseudowords using dual-target rapid serial visual presentation (RSVP) of stimuli appearing at 30 ms per character with no inter-stimulus interval. The results indicate that Chinese readers can identify words with character transpositions in rapid succession; however, a transposition cost is involved in identifying transposed words compared to canonical words. In RSVP reading, character order of words is more likely to be reversed during the period from 30 to 180 ms for canonical and reversible words, but the period from 30 to 240 ms for transposed words. Taken together, the findings demonstrate that the holistic representation of the base word is activated, however, the order of the two constituent characters is not strictly processed during the very early stage of visual word processing.

  2. Anesthesia for the adult patient with an unrepaired congenital cyanotic heart defect: a case report.

    PubMed

    Cosgrove, Marianne S

    2012-06-01

    Adult congenital heart disease, previously considered a rare comorbidity, is increasingly becoming a reality for today's anesthesia providers. Improvements in prenatal diagnosis, sophisticated surgical techniques and equipment, advances in pediatric critical care, enhanced efficacy of cardiovascular pharmacologic agents, and an overall increase in postrepair survival rates have resulted in an estimated population of approximately 800,000 adults with congenital heart disease. Despite successful surgical repair or palliation, these individuals present the anesthesia provider with a multitude of challenges. Individualized care of these fragile patients should be approached with a keen understanding of the patient's underlying cardiac anomaly. This case report chronicles the anesthetic care of a 36-year-old woman presenting for left-sided ureteroscopy with laser lithotripsy and stent placement. Her medical history was remarkable for the presence of complex congenital heart disease consisting of multiple anomalies: a double-outlet right ventricle, transposition of the great arteries, pulmonary stenosis, atrial septal defect, and a hypoplastic left ventricle with concomitant mitral valve atresia. General anesthesia was successfully administered, with meticulous attention given to maintenance of systemic vascular resistance to minimize shunting, oxygenation, administration of preprocedure antibiotics, and judicious replacement of intravenous fluids via air-filtered tubing.

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

    PubMed

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

    2017-04-01

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

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

    PubMed Central

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

    2017-01-01

    ABSTRACT Neonatal hypoxia can lead to hippocampal atrophy, which can lead, in turn, to memory impairment. To test the generalizability of this causal sequence, we examined a cohort of 41 children aged 8‐16, who, having received the arterial switch operation to correct for transposition of the great arteries, had sustained significant neonatal cyanosis but were otherwise neurodevelopmentally normal. As predicted, the cohort had significant bilateral reduction of hippocampal volumes relative to the volumes of 64 normal controls. They also had significant, yet selective, impairment of episodic memory as measured by standard tests of memory, despite relatively normal levels of intelligence, academic attainment, and verbal fluency. Across the cohort, degree of memory impairment was correlated with degree of hippocampal atrophy suggesting that even as early as neonatal life no other structure can fully compensate for hippocampal injury and its special role in serving episodic long term memory. © 2017 Wiley Periodicals, Inc. PMID:28032672

  5. Congenital protein hypoglycosylation diseases

    PubMed Central

    Sparks, Susan E

    2012-01-01

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

  6. Congenital syphilis: an unusual presentation.

    PubMed

    Dzebolo, N N

    1980-08-01

    Congenital syphilis was discovered in a neonate with the unusual radiographic presentation of unilateral involvement of three bones showing lytic lesions and periostitis. Congenital syphilis should be considered in a newborn infant with these radiographic manifestations, especially when a suggestive history is obtained.

  7. Cataracts in Congenital Toxoplasmosis

    PubMed Central

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

    2008-01-01

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

  8. [Congenital defects and incapacity].

    PubMed

    Jouve de la Barreda, Nicolás

    2009-01-01

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

  9. [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.

  10. Exome sequencing reveals novel IRXI mutation in congenital heart disease.

    PubMed

    Guo, Changlong; Wang, Qidi; Wang, Yuting; Yang, Liping; Luo, Haiyan; Cao, Xiao Fang; An, Lisha; Qiu, Yue; Du, Meng; Ma, Xu; Li, Hui; Lu, Cailing

    2017-03-30

    Genetic variation in specific transcription factors during heart formation may lead to congenital heart disease (CHD) or even miscarriage. The aim of the present study was to identify CHD‑associated genes using next generation sequencing (NGS). The whole exome DNA sequence was obtained from a stillborn fetus diagnosed with tricuspid atresia and complete transposition of the great arteries using high‑throughput sequencing methods. Subsequently, genetic variants of CHD‑associated genes were selected and verified in 215 non‑syndromic CHD patients and 249 healthy control subjects using polymerase chain reaction combined with Sanger sequencing. Genetic variants of previously reported CHD‑inducing genes, such as cysteine rich with EGF like domains 1 and cbp/p300‑interacting transactivator with Glu/Asp rich carboxy‑terminal domain 2, were discovered through the NGS analysis. In addition, a novel non‑synonymous mutation of the iroquois homeobox 1 (IRX1) gene (p.Gln240Glu) was identified. A total of three non‑synonymous mutations (p.Gln240Glu, p.Ser298Asn and p.Ala381Glu) of the IRX1 gene were verified in 215 non‑syndromic CHD patients, but not in 249 healthy volunteers. The results demonstrated that NGS is a powerful tool to study the etiology of CHD. In addition, the results suggest that genetic variants of the IRX1 gene may contribute to the pathogenesis of CHD.

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

    PubMed Central

    2010-01-01

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

  12. An evaluation of range gated pulsed Doppler echocardiography for detecting pulmonary outflow tract obstruction in d-transposition of the great vessels.

    PubMed

    Areias, J C; Goldberg, S J; Spitaels, S E; de Villeneuve, V H

    1978-10-01

    The aim of this study was to determine the accuracy of range gated pulsed Doppler (RGPD) echocardiography for detecting obstruction to the pulmonary outflow tract in children with d-transposition of the great vessels (d-TGV). Twenty-one children were randomly selected for those available with d-TGV and were studied by precordial and suprasternal RGPD echocardiography. Three were excluded, leaving a population of 18 subjects. The exclusive criterion used to judge the RGPD results was the output of the time interval histogram (TIH). Coherence of the TIH was considered to represent laminar flow. Dispersion of the TIH was considered evidence of flow disturbance and obstruction to the outflow tract. With the range gating feature, the first site of disturbance could be localized. Information was handled by a technique that decreased bias. RGPD results were then compared to diagnoses of the outflow tract established at cardiac catheterization or operation. Comparison of these results indicated that all seven children with obstruction were correctly identified by RGPD study, and the level of the first obstruction was correctly identified. With one exception, all children without pulmonary obstruction were correctly identified by the examination.

  13. Congenital stationary night blindness presenting as Leber's congenital amaurosis.

    PubMed

    Weleber, R G; Tongue, A C

    1987-03-01

    Two siblings with autosomal-recessive congenital stationary night blindness were clinically blind in infancy. Both had markedly abnormal electroretinograms that, in the first child, led consultants at two university centers to make the diagnosis of Leber's congenital amaurosis. The patients had intermittent nystagmus and esotropia, but good photopic vision developed eventually. Scotopic vision was clearly defective in each child. Refractive error in both patients was close to emetropic in early infancy but became myopic by 1 year of age. Congenital stationary night blindness must be considered in the differential diagnosis of the blind infant.

  14. Congenital Sternal Cleft along with Persistent Left-Sided Superior Vena Cava: A Rare Presentation

    PubMed Central

    Saha, Anindya Kumar; Sardar, Syamal Kumar; Sur, Amitava

    2013-01-01

    Congenital sternal cleft is a rare abnormality resulting from fusion failure of sternum. It occurs in isolation or along with defects of abdominal wall, diaphragm, pericardium, and heart. Early surgical correction is required to protect the underlying structures for risk of cardiac compression. Here we report a case of 20-day female child presenting with congenital sternal cleft associated with multiple congenital heart disease and left-sided superior vena cava. She was operated by the cardiothoracic surgical team successfully and is doing well on followup. We discuss this rare case, imaging studies, and surgical strategy. PMID:23841006

  15. Surgical treatment of congenital kyphosis associated with progressive spastic paralysis in an adult patient.

    PubMed

    Nomura, Hiroshi; Terada, Kazumasa; Kobara, Nobuo; Miyazaki, Kiyoshi; Yuasa, Michitaka; Murata, Dai; Miyahara, Hisaaki

    2006-06-01

    A 38-year-old man presented with untreated congenital kyphosis associated with progressive spastic gait. To prevent progression of the spastic paralysis, rigid correction of the severe spinal deformity arising from the congenital kyphosis was performed by one-stage posterior closing-wedge osteotomy, without occurrence of neurological complications. Progression of the paralysis has not been identified for 30 months after the operation and a slight improvement in gait was recognized. The current case is categorized as type I deformity of congenital kyphosis in the upper thoracic spine, which is normally treated surgically before the adolescent growth phase begins.

  16. Congenital mirror movements.

    PubMed Central

    Schott, G D; Wyke, M A

    1981-01-01

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

  17. 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.

  18. Congenital adrenal hyperplasia.

    PubMed

    Merke, Deborah P; Bornstein, Stefan R

    Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.

  19. 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.

  20. 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

  1. Congenital heart defects and medical imaging.

    PubMed

    Gehin, Connie; Ragsdale, Lisa

    2013-01-01

    Radiologic technologists perform imaging studies that are useful in the diagnosis of congenital heart defects in infants and adults. These studies also help to monitor congenital heart defect repairs in adults. This article describes the development and functional anatomy of the heart, along with the epidemiology and anatomy of congenital heart defects. It also discusses the increasing population of adults who have congenital heart defects and the most effective modalities for diagnosing, evaluating, and monitoring congenital heart defects.

  2. Congenital complete heart block in Klippel-Feil syndrome.

    PubMed

    Elumalai, Raja Saravanan; Nainar, Madhu Sankar; Vaidyanathan, Kirthivasan; Somasundaram, Ganesh; Balasubramaniam, Govini

    2013-04-01

    A 36-year-old man with a short neck, low hairline, and mild kyphoscoliosis, presented with history of syncope. Chest radiography revealed a diaphragmatic hernia. Computed tomography demonstrated fusion of C2-C6 vertebral bodies, Electrocardiography indicated complete heart block. Ultrasonography showed a right pelvic kidney. He was diagnosed with Klippel-Feil syndrome and underwent permanent pacemaker implantation and corrective surgery for the congenital diaphragmatic hernia.

  3. Demonstration of IS711 transposition in Brucella ovis and Brucella pinnipedialis

    PubMed Central

    Ocampo-Sosa, Alain A; García-Lobo, Juan M

    2008-01-01

    Background The Brucella genome contains an insertion sequence (IS) element called IS711 or IS6501, which is specific to the genus. The copy number of IS711 varies in the genome of the different Brucella species, ranging from 7 in B. abortus, B. melitensis and B. suis to more than 30 in B. ovis and in Brucella strains isolated from marine mammals. At present, there is no experimental evidence of transposition of IS711, but the occurrence of this element with a high copy number in some species, and the isolation of Brucella strains with "ectopic" copies of IS711 suggested that this IS could still transpose. Results In this study we obtained evidence of transposition of IS711 from the B. ovis and B. pinnipedialis chromosomes by using the "transposon trap" plasmid pGBG1. This plasmid expresses resistance to tetracycline only if the repressor gene that it contains is inactivated. The strains B. melitensis 16 M, B. abortus RB51, B. ovis BOC22 (field strain) and B. pinnipedialis B2/94, all containing the plasmid pGBG1, were grown in culture media with tetracycline until the appearance of tetracycline resistant mutants (TcR). TcR mutants due to IS711 transposition were only detected in B. ovis and B. pinnipedialis strains. Conclusion Four different copies of IS711 were found to transpose to the same target sequence in the plasmid pGBG1. This demonstrated that IS711 are active in vivo, specially in Brucella species with a high number of IS711 copies as B. ovis and B. pinnipedialis. PMID:18218072

  4. 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

  5. The role of the gut hormone GLP-1 in the metabolic improvements caused by Ileal Transposition

    PubMed Central

    Gaitonde, Shrawan; Kohli, Rohit; Seeley, Randy

    2011-01-01

    Bariatric surgery alters the gastrointestinal hormonal milieu leading to improved glucose homeostasis, though the mechanism leading to these changes is poorly understood. Ileal transposition (IT) is a procedure that is neither restrictive nor malabsorptive but nevertheless produces profound improvements in glucose regulation. Ileal transposition involves a short segment of distal ileum being transposed to the proximal jejunum in an isoperistaltic direction thereby avoiding any gastric resection or intenstinal bypass. Methods Diet-induced obese rats underwent either Ileal Transposition (IT), or Sham procedures. The Sham operated rats were pair fed to the IT surgical group to control for the effects of reduced food intake. Body composition data was recorded at specific time points, and glucose tolerance tests were performed at 5 and 6 weeks both in the presence and absence of Exendin 9–39, a known glucose-like peptide 1 (GLP-1) receptor antagonist. A subset of Naïve rats were also maintained for comparison. Results IT and Sham operated rats had no differences in food intake and body weight however, IT rats had a significant decrease in their body fat composition (P<0.05). No difference existed in glucose tolerance when exposed to an intrapertioneal glucose load, however, IT rats showed markedly improved glucose tolerance when submitted to an oral glucose tolerance test (p<0.001). Blocking GLP-1 receptors reversed these important improvements in rats with IT surgery. Conclusions The present work recapitulates what is seen in rodents and humans that IT improves glucose tolerance and body composition. The present data provide compelling evidence that these improvements are a product of increased GLP-1 secretion that results from placing the key GLP-1 secreting cells closer to chyme coming from the stomach. Such data support the notion that rather than restriction or malabsorption, the underling molecular mechanisms that mediate the potent improvements produced by

  6. Comparison of Astigmatism Induced by Combined Inferior Oblique Anterior Transposition Procedure and Lateral Rectus Recession Alone

    PubMed Central

    Eum, Sun Jung

    2016-01-01

    Purpose The purpose of this study is to compare the magnitude and axis of astigmatism induced by a combined inferior oblique (IO) anterior transposition procedure with lateral rectus (LR) recession versus LR recession alone. Methods Forty-six patients were retrospectively analyzed. The subjects were divided into two groups: those having concurrent inferior oblique muscle overaction (IOOA) and intermittent exotropia (group 1, 20 patients) and those having only intermittent exotropia as a control (group 2, 26 patients). Group 1 underwent combined anterior transposition of IO with LR recession and group 2 underwent LR recession alone. Induced astigmatism was defined as the difference between preoperative and postoperative astigmatism using double-angle vector analysis. Cylinder power, axis of induced astigmatism, and spherical equivalent were analyzed at 1 week, 1 month, and 3 months after surgery. Results Larger changes in the axis of induced astigmatism were observed in group 1, with 4.5° incyclotorsion, than in group 2 at 1 week after surgery (axis, 84.5° vs. 91°; p < 0.001). However, there was no statistically significant inter-group difference thereafter. Relaxation and rapid regression in the incyclotorsion of induced astigmatism were observed over-time. Spherical equivalent significantly decreased postoperatively at 1 month in both groups, indicating a myopic shift (p = 0.011 for group 1 and p = 0.019 for group 2) but did not show significant differences at 3 months after surgery (p = 0.107 for group 1 and p = 0.760 for group 2). Conclusions Combined IO anterior transposition procedures caused an increased change in the axis of induced astigmatism, including temporary incyclotorsion, during the first week after surgery. However, this significant difference was not maintained thereafter. Thus, combined IO surgery with LR recession does not seem to produce a sustained astigmatic change, which can be a potential risk factor of postoperative amblyopia or

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

    PubMed

    Cao, Hongwen; Gao, Min; Yan, Hongmei

    2016-01-01

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

  8. Congenital Hypothyroidism: Facts, Facets & Therapy.

    PubMed

    Kollati, Yedukondalu; Ambati, Ranga Rao; Reddy, Prakash Narayana; Kumar, N Satya Sampath; Patel, Rajesh K; Dirisala, Vijaya R

    2017-02-06

    Back ground: Thyroid hormone (T3) is essential for normal development of children enabling brain development and somatic growth. However, certain individuals are genetically predisposed with insufficient or no thyroid hormones. Such a condition is termed congenital hypothyroidism (CH).

  9. Photoaversion in Leber's congenital amaurosis.

    PubMed

    Traboulsi, E I; Maumenee, I H

    1995-03-01

    Photoaversion is a prominent symptom of a number of infantile genetic ocular disorder such as congenital glaucoma, aniridia, albinism, and cone dystrophies including achromatopsia. Photoaversion has not been widely recognized as a clinical feature of Leber's congenital amaurosis. We present two patients who were diagnosed clinically with achromatopsia because of nystagmus, absent color vision, reduced visual acuity, and moderately severe photoaversion in the absence of anterior segment abnormalities. The photopic and scotopic responses of the electroretinogram (E R G) were nonrecordable in both patients indicating involvement of both cone and rod systems. The diagnosis was then revised to one of Leber's congenital amaurosis. Photoaversion can be a prominent clinical feature in some patients with Leber's congenital amaurosis. The E R G clinches the diagnosis. These patients may constitute a distinct genetic subtype of the disease and molecular genetic studies will help resolve this issue.

  10. Why Search for Congenital Defects?

    PubMed Central

    Collins, John F.

    1966-01-01

    The causation of congenital malformation is receiving increased study. In Canada, epidemiologic surveys are being planned, based upon the institution of Provincial Registries to which physicians and other agencies will voluntarily report cases coming to their attention. The literature in regard to prevalence studies of congenital cardiac defects in school children is reviewed. Over the past 25 years, studies employing the proposed technique demonstrated a rising trend, from 1.4 per 1000 to 2.6 per 1000. By contrast, specific surveys for congenital cardiac defect carried out by expert personnel using radiographs and electrocardiographs, resulted in essentially uniform rates, approximating 5 to 6 per 1000. It is concluded that the latter is a superior technique of epidemiologic survey over the “Central Registry” method, and should command a due proportion of health resources directed towards congenital malformation research. PMID:5914837

  11. Congenital Syngnathia; Turmoils and Tragedy

    PubMed Central

    Sarin, Yogesh Kumar; Raj, Prince; Arya, Mona; Dali, Jaspal Singh

    2017-01-01

    Congenital syngnathia is an extremely rare condition with no standardized treatment. We hereby report a case highlighting the difficulties faced in its management and the postoperative complications. PMID:28083498

  12. 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

  13. Conjugative transposition of Tn916 and detection of Tn916-Like transposon in Erysipelothrix rhusiopathiae.

    PubMed

    OZAWA, Manao; YAMAMOTO, Kinya; KOJIMA, Akemi; TAKAGI, Masami; TAKAHASHI, Toshio

    2009-11-01

    In order to investigate the origin of tetracycline resistance in Erysipelothrix rhusiopathiae, conjugative transpositions of Tn916 were tested. The frequency of transfer between strains of E. rhusiopathiae was about 10-fold higher than that between Enterococcus faecalis and E. rhusiopathiae. In addition, detection of a Tn916-like transposon was performed by PCR assay and DNA sequencing in E. rhusiopathiae field isolates. Of 49 tetracycline-resistant isolates, 38 (77.6 %) carried a Tn916-like transposon, while 11 (22.4 %) carried tet(M) only. These results suggested that Tn916-like transposon may be widely present in the E. rhsuiopathiae field isolates resistant to tetracycline.

  14. Percutaneous suprasternal puncture (Radner technique) of the pulmonary artery in transposition of the great vessels.

    PubMed

    Rahimtoola, S H; Ongley, P A; Swan, H J

    1966-02-01

    Introduction of a cardiac catheter into the pulmonary artery from the right heart is not possible in a substantial proportion of patients with transposition of the great vessels. It is necessary to obtain the pulmonary artery pressure and oxygen saturation value to evaluate the degree of pulmonary stenosis and the pulmonary vascular resistance. Twenty-three patients are described in whom this was accomplished by percutaneous suprasternal puncture. There was no mortality and there were no significant complications. The technique appears to be safe and reliable.

  15. Plain-film assessment of the neonate with D-transposition of the great vessels.

    PubMed

    Donnelly, L F; Hurst, D R; Strife, J L; Shapiro, R

    1995-01-01

    The presenting chest radiographs of 27 new-born patients with D-transposition of the great vessels (D-TGV) were evaluated for the degree of pulmonary flow as well as other findings classically described in D-TGV (narrow superior mediastinum, radiographically absent thymus, inapparent main pulmonary artery, non-visualization of the malpositioned aortic arch, asymmetric pulmonary blood flow, and cardiomegaly). Of the 27 patients, 22 (82%) demonstrated normal or decreased flow. The majority of the D-TGV patients also failed to demonstrate any of the other classically described radiographic findings. A normal chest radiograph is the most common presenting scenario in the neonate with D-TGV.

  16. The changing strategies in operation for transposition of the great vessels.

    PubMed

    Alexander, J A; Knauf, D G; Greene, M A; van Mierop, L H; O'Brien, D J

    1994-10-01

    Between July 3, 1985, and February 24, 1994, a total of 55 infants underwent arterial switch procedures for the repair of transposition of the great vessels. Thirty-five infants had an intact ventricular septum and 20 had ventricular septal defects. To date, there have been three late deaths, one in the group with an intact ventricular septum and two in the group with a ventricular septal defect. Early postoperative complications included atrial dysrhythmias, prolonged ventilation, inability to close the sternum, and tension on the coronary arteries. Follow-up echocardiographic data for 44 patients indicate that pulmonary artery gradients are a worrisome postoperative problem, especially in infants who have ventricular septal defects.

  17. [Congenital Adrenal Hyperplasia in Adults].

    PubMed

    Vrbíková, Jana

    2016-01-01

    Congenital adrenal hyperplasia is a life-long disease requiring an integrated therapy. It may negatively influence the quality of life. In childhood, the main problems of the care of these patients involve sex determination and ensuring optimum growth and puberty. The therapeutic goals for adults are the prevention of Addisonian crisis and ensuring the best possible quality of life, including fertility.Key words: androgens - cardiovascular risk - congenital adrenal hyperplasia - bone density - testicular rest tumors.

  18. Congenital abnormalities and selective abortion.

    PubMed

    Seller, M J

    1976-09-01

    The technique of amniocentesis, by which an abnormal fetus can be detected in utero, has brought a technological advance in medical science but attendant medical and moral problems. Dr Seller describes those congenital disabilities which can be detected in the fetus before birth, for which the "remedy" is selective abortion. She then discusses the arguments for and against selective abortion, for the issue is not simple, even in the strictly genetic sense of attempting to ensure a population free of congenital abnormality.

  19. Immunotherapy of Congenital SIV Infection.

    DTIC Science & Technology

    1996-10-01

    TITLE: Immunotherapy of Congenital SIV Infection PRINCIPAL INVESTIGATOR: Ruth M. Ruprecht, M.D., Ph.D. CONTRACTING ORGANIZATION: Dana-Farber Cancer...SUBTITLE Immunotherapy of Congenital SIV 5. FUNDING NUMBERS Infection DAMD17-94-J-4431 6. AUTHOR(S) Ruth M. Ruprecht. M.D-. Ph.D 7. PERFORMING...period of several weeks, this strategy was adopted to avoid potential bias because of season or other factors. Because the staff at the Yerkes Regional

  20. Congenital subtalar dislocation--a case report.

    PubMed

    Saini, Raghav; Dhillon, M S; Gill, S S

    2009-09-01

    Congenital dislocation of the subtalar joint is one of the rarest forms of presentation of a calcaneo-valgus foot. We report the second case of this type published; an 18-month female child aged was seen with calcaneo-valgus deformity of left foot since birth. She was walking over the medial malleolus and medial border of foot. Radiographs and 3D CT scan of the left foot confirmed the diagnosis of a congenital subtalar dislocation. Surgical correction was achieved through a posterolateral incision, and the reduced joint was fixed with a k-wires for 6 weeks; the foot was immobilized in below knee cast for another 6 weeks, and an ankle foot orthosis was used for another 3 years. At 3 years post-surgical follow up, the child has a plantigrade foot with no functional impairment. Follow up radiographs and 3D CT scan confirmed the maintenance of well aligned talo-calcaneal joint. This type of dislocation should be considered in the differential diagnosis of calcaneo-valgus foot; a clear understanding of the pathology, a precise operative reduction, and long-term use of orthosis results in a favourable outcome.

  1. Gracilis muscle transposition as a workhorse flap for anal incontinence: Quality of life and functional outcome in adults

    PubMed Central

    Kalra, Guru Dayal Singh; Sharma, Amit Kumar; Shende, Kaustubh Sharad

    2016-01-01

    Background/Purpose: Anal incontinence is one of the most psychologically and socially debilitating conditions in an otherwise healthy individual. It can lead to social isolation, loss of self-esteem, self-confidence and depression. This study is devoted to the problem of anal incontinence in the adult patients. The aim of our study is to analyse the results of gracilis muscle transposition for anal incontinence and improvement in quality of life (QOL) of patients. Materials and Methods: This was a retrospective study. A total of 18 patients with complaint of anal incontinence were enrolled in this study. All patients were treated with gracilis muscle transposition. Results: All patients are continent, and there is an improvement in their QOL. Conclusion: Gracilis muscle transposition is a good option for patients of anal incontinence who are not treated by non-surgical means. PMID:28216815

  2. Corrective work.

    ERIC Educational Resources Information Center

    Hill, Leslie A.

    1978-01-01

    Discusses some general principles for planning corrective instruction and exercises in English as a second language, and follows with examples from the areas of phonemics, phonology, lexicon, idioms, morphology, and syntax. (IFS/WGA)

  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. Congenital paralytic vertical talus. An anatomical study.

    PubMed

    Specht, E E

    1975-09-01

    Dissections of the feet of a three-month-old infant with paralytic congenital vertical talus secondary to lumbar myelomeningocele were compared with a dissection of a normal foot. The major differences appeared to be absence of the plantar intrinsic muscles and dorsal dislocation of the talonavicular joint. It is postulated that the pathological process begins as a failure of the intrinsic muscles to oppose the unbalanced, active dorsiflexion forces of the anterior crural muscles. This imbalance then allows disruption of the talonavicular joint, mechanically the least stable joint in the mid-part of the foot. All dorsiflexion forces acting on the ankle then become ineffective and plantar flexion forces serve only to pull the calcaneus and talus into equinus, causing a "vertical" talus. Treatment must be directed at reducing the talonavicular dislocation, correcting the equinus deformity of the hind part of the foot, and substituting for the undeveloped plantar intrinsic muscles.

  5. Congenital prothrombin deficiency.

    PubMed

    Lancellotti, Stefano; De Cristofaro, Raimondo

    2009-06-01

    Prothrombin deficiency is among the rarest inherited coagulation disorders, with a prevalence of approximately 1:2,000,000. Two main phenotypes can be distinguished: (1) hypoprothrombinemia (type I deficiency), characterized by concomitantly low levels of activity and antigen; and (2) dysprothrombinemia (type II deficiency), characterized by the normal or near-normal synthesis of a dysfunctional protein. In some cases, hypoprothrombinemia associated with dysprothrombinemia was also described in compound heterozygous defects. No living patient with undetectable plasma prothrombin has been reported to date. Prothrombin is encoded by a gene of approximately 21 kb located on chromosome 11 and containing 14 exons. Forty different mutations have been identified and characterized in prothrombin deficiency. Many of them surround the catalytic site, whereas another "hot spot" is localized in the recognition domain called anion binding exosite I, also called fibrinogen recognition site. Recently, mutations were identified also in the Na (+)-binding loop and in the light A-chain of thrombin. Most hypoprothrombinemia-associated mutations are missense, but there are also nonsense mutations leading to stop codons and one single nucleotide deletion. Finally, the main aspects of clinical manifestations and therapy of congenital prothrombin deficiency are presented and discussed.

  6. Singing in congenital amusia.

    PubMed

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

    2009-07-01

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

  7. [Congenital insensitivity to pain].

    PubMed

    Danziger, N; Willer, J-C

    2009-02-01

    Congenital insensitivity to pain (CIP) is a rare syndrome with various clinical expressions, characterized by a dramatic impairment of pain perception since birth. In the 1980s, progress in nerve histopathology allowed to demonstrate that CIP was almost always a manifestation of hereditary sensory and autonomic neuropathies (HSAN) involving the small-calibre (A-delta and C) nerve fibres which normally transmit nociceptive inputs along sensory nerves. Identification of the genetic basis of several clinical subtypes has led to a better understanding of the mechanisms involved, emphasizing in particular the crucial role of nerve growth factor (NGF) in the development and survival of nociceptors. Recently, mutations of the gene coding for the sodium channel Nav1.7--a voltage-dependent sodium channel expressed preferentially on peripheral nociceptors and sympathetic ganglia--have been found to be the cause of CIP in patients showing a normal nerve biopsy. This radical impairment of nociception mirrors the hereditary pain syndromes associated with "gain of function" mutations of the same ion channel, such as familial erythromelalgia and paroxysmal extreme pain disorder. Future research with CIP patients may identify other proteins specifically involved in nociception, which might represent potential targets for chronic pain treatment. Moreover, this rare clinical syndrome offers the opportunity to address interesting neuropsychological issues, such as the role of pain experience in the construction of body image and in the empathic representation of others' pain.

  8. Congenital lipoid adrenal hyperplasia

    PubMed Central

    2014-01-01

    Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion. The StAR p.Q258X mutation accounts for about 70% of affected alleles in most patients of Japanese and Korean ancestry. However, it is more prevalent (92.3%) in the Korean population. Recently, some patients have been showed that they had late and mild clinical findings. These cases and studies constitute a new entity of 'nonclassic lipoid CAH'. The cholesterol side-chain cleavage enzyme, P450scc (CYP11A1), plays an essential role converting cholesterol to pregnenolone. Although progesterone production from the fetally derived placenta is necessary to maintain a pregnancy to term, some patients with P450scc mutations have recently been reported. P450scc mutations can also cause lipoid CAH and establish a recently recognized human endocrine disorder. PMID:25654062

  9. Canine congenital portosystemic encephalopathy.

    PubMed

    Maddison, J E

    1988-08-01

    The case records of 21 dogs with congenital portosystemic encephalopathy are reviewed. The disorder was most common in Australian cattledogs (blue heelers; 8 cases), Old English sheepdogs (3 cases) and Maltese terriers (3 cases). Extra-hepatic shunts occurred in small breeds, with the exception of 1 cattledog, while intra-hepatic shunts occurred in the medium to large breeds. The most common clinical pathology abnormalities were abnormal ammonia tolerance, mild to moderate increases in plasma alanine aminotransferase or alkaline phosphatase concentrations, decreased total serum protein concentrations, increased fasting ammonia concentrations and ammonium biurate crystalluria. Radiological examination revealed that all the dogs had a small liver. The kidneys were enlarged in 5 of 10 dogs in which kidney size could be estimated. Surgical ligation of an extra-hepatic shunt was successful in 2 of 4 dogs in which it was attempted. Medical management resulted in alleviation of clinical signs in 5 of 8 dogs. The period of successful treatment ranged from a few months to over a year.

  10. [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.

  11. [Congenital aortic stenosis].

    PubMed

    Yamaguchi, M

    2001-08-01

    Recent advances in and controversies concerning the management of children with congenital valvular aortic stenosis are discussed. In neonates with critical aortic stenosis, improved survival has recently been reported after surgical open valvotomy and balloon valvuloplasty, although it is difficult at this point to compare the results of the two procedures and determine their differential indications. Good results have also been achieved after extended aortic valvuloplasty for recurrent aortic stenosis and/or insufficiency, but the length of follow-up in these patients is still short. The technique first reported in 1991 for bilateral enlargement fo a small annulus permits the insertion of an aortic valve 3-4 sizes larger than the native annulus. It entails no risk of distorting the mitral valve, damaging the conduction system or important branches of the coronary arteries, or resulting in left ventricular dysfunction. The Ross procedure is now widely applied in the West, with reports of early mortality rates of less than 5% and event-free survival rates of 80-90% during follow-up of 4-8 years. Longer follow-up and continued careful evaluation are required to resolve the issue of possible dilatation and subsequent neoaortic valve dysfunction and pulmonary stenosis due to allograft degeneration after pulmonary autograft root replacement in children.

  12. [Congenital Esophageal Atresia].

    PubMed

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

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

  13. Reconstitutional Mutagenesis of the Maize P Gene by Short-Range Ac Transpositions

    PubMed Central

    Moreno, M. A.; Chen, J.; Greenblatt, I.; Dellaporta, S. L.

    1992-01-01

    The tendency for Ac to transpose over short intervals has been utilized to develop insertional mutagenesis and fine structure genetic mapping strategies in maize. We recovered excisions of Ac from the P gene and insertions into nearby chromosomal sites. These closely linked Ac elements reinserted into the P gene, reconstituting over 250 unstable variegated alleles. Reconstituted alleles condition a variety of variegation patterns that reflect the position and orientation of Ac within the P gene. Molecular mapping and DNA sequence analyses have shown that reinsertion sites are dispersed throughout a 12.3-kb chromosomal region in the promoter, exons and introns of the P gene, but in some regions insertions sites were clustered in a nonrandom fashion. Transposition profiles and target site sequence data obtained from these studies have revealed several features of Ac transposition including its preference for certain target sites. These results clearly demonstrate the tendency of Ac to transpose to nearby sites in both proximal and distal directions from the donor site. With minor modifications, reconstitutional mutagenesis should be applicable to many Ac-induced mutations in maize and in other plant species and can possibly be extended to other eukaryotic transposon systems as well. PMID:1325389

  14. Spatial rotations and transpositions in orangutans ( Pongo pygmaeus) and chimpanzees ( Pan troglodytes).

    PubMed

    Call, Josep

    2003-10-01

    This study investigated the ability of three chimpanzees and three orangutans to track the position of a reward after a series of displacements. The reward was placed under one of two opaque containers resting on a platform. Experiment 1 investigated rotational displacements in which the platform was rotated 0 degrees, 180 degrees, or 360 degrees. Experiment 2 investigated transpositional displacements in which the platform remained stationary while the containers either remained stationary, or swapped their positions (in a one- two- or three-step sequence). In both experiments, the initial position of the reward was indicated either by directly showing the reward under the containers, or by placing a landmark, which had been previously associated with the reward, on top of the baited container. Subjects successfully tracked the reward through rotations and transpositions when they had seen it, but their performance substantially deteriorated when the landmark indicated the reward's initial position, even though subjects successfully used the landmark to find the reward in the absence of displacements. This decrease was especially pronounced in rotational displacements. A language-trained orangutan outperformed all the other apes and solved all problems.

  15. Structural features of transposed human VK genes and implications for the mechanism of their transpositions.

    PubMed

    Borden, P; Jaenichen, R; Zachau, H G

    1990-04-25

    The genes encoding the variable, joining and constant regions of human immunoglobulin light chains have been localized to the short arm of chromosome 2. However, several VK genes lie outside of the locus: a single copy cluster of five VK genes is located on chromosome 22; an isolated but amplified VkI gene is found on chromosome 1; and several isolated VkI genes are on as-yet-unidentified chromosomes other than chromosome 2. Vk genes not contained within the kappa locus are termed orphons. We have attempted to gain insight into the mechanism of transposition of both the chromosome 22 cluster and the several amplified VkI genes by searching in the kappa locus for a parent copy of the former, and by analyzing the junctions between transposed VKI-containing segments and adjacent non-amplified regions. The chromosome 22 orphon cluster must have been non-duplicatively transposed. Sequence features at the junctions of this and other orphon regions are direct and inverted repeats, and, in one case, an Alu repeat. These unusual features may have predisposed the orphon regions to transposition by serving as target sites for enzymes involved in recombination.

  16. Character Decomposition and Transposition of Chinese Compound Words in the Right and Left Visual Fields

    PubMed Central

    Cao, Hong-Wen; Yang, Kai-Fu

    2016-01-01

    This study investigated the character decomposition and transposition processes of Chinese two-character compound words (canonical and transposed words) and pseudowords in the right and left visual fields using a dual-target rapid serial visual presentation paradigm. The results confirmed a right visual field superiority for canonical words, but this advantage vanished for transposed words. The findings further indicated that the same quality of lexical processing could be obtained from the foveal and parafoveal regions of the right and left visual fields, regardless of the character order, but not in the periphery of the right visual field. Moreover, the proportion of order reversals peaked at the central position and the shortest exposure time, but it declined with increasing eccentricity and time interval. We concluded that the character transposition of Chinese compound words was significantly sensitive in the periphery of the right visual field. Furthermore, the character order errors were mainly encoded in the foveal vision with a duration of 100 ms, which suggested that the order of the foveally presented Chinese characters was more likely to be reversed at the early stage of visual word processing. PMID:27847584

  17. Active Pedicle Epithelial Flap Transposition Combined with Amniotic Membrane Transplantation for Treatment of Nonhealing Corneal Ulcers

    PubMed Central

    Zhang, Ting; Wang, Yuexin; Jia, Yanni; Liu, Dongle; Li, Suxia; Shi, Weiyun

    2016-01-01

    Introduction. The objective was to evaluate the efficacy of active pedicle epithelial flap transposition combined with amniotic membrane transplantation (AMT) in treating nonhealing corneal ulcers. Material and Methods. Eleven patients (11 eyes) with nonhealing corneal ulcer who underwent the combined surgery were included. Postoperatively, ulcer healing time was detected by corneal fluorescein staining. Visual acuity, intraocular pressure, surgical complications, and recurrence were recorded. Corneal status was inspected by the laser scanning confocal microscopy and anterior segment optical coherence tomography (AS-OCT). Results. The primary diseases were herpes simplex keratitis (8 eyes), corneal graft ulcer (2 eyes), and Stevens-Johnson syndrome (1 eye). All epithelial flaps were intact following surgery, without shedding or displacement. Mean ulcer healing time was 10.8 ± 3.1 days, with a healing rate of 91%. Vision significantly improved from 1.70 to 0.82 log MAR (P = 0.001). A significant decrease in inflammatory cell infiltration and corneal stromal edema was revealed 2 months postoperatively by confocal microscopy and AS-OCT. Corneal ulcer recurred in 1 eye. None of the patients developed major complications. Conclusion. Active pedicle epithelial flap transposition combined with AMT is a simple and effective treatment for nonhealing corneal ulcers. PMID:27830086

  18. Pulmonary vascular disease in transposition of the great vessels and intact ventricular septum.

    PubMed

    Newfeld, E A; Paul, M H; Muster, A J; Idriss, F S

    1979-03-01

    Eight of 135 (6%) children with d-transposition of the great vessels and with intact ventricular septum and no patent ductus arteriosus had evidence of progressive pulmonary vascular disease. Seven of 101 (7%) patients for whom histologic data was available, had Heath-Edwards grades IV or V pulmonary vascular disease, six had grade II, and 88 had either normal or grade I findings. One of 34 patients for whom histologic data was not available had hemodynamic evidence of pulmonary vascular disease at cardiac catheterization after the Mustard operation. When infants younger than 3 months old were excluded, eight of 85 (9%) had advanced pulmonary vascular disease. Twenty-three patients had microthrombi in their pulmonary arteries and arterioles, and in one patient thrombi were observed before the development of pulmonary vascular disease. Clinically unrecognized pulmonary microthrombi are suggested as a possible etiologic agent in the development of pulmonary vascular disease in patients with transposition of the great vessels. Progressive pulmonary vascular disease can first be discovered after the Mustard operation, even in patients without preoperative evidence of pulmonary hypertension or elevated pulmonary vascular resistance.

  19. Full-tendon nasal transposition of the vertical rectus muscles: a retrospective review.

    PubMed

    Dawson, Emma L M; Boyle, Natalie J; Lee, John P

    2007-01-01

    The authors report the results of a retrospective review of patients who underwent nasal transposition of the vertical rectus muscles between 1997 and 2004. Eight patients were identified, 4 males and 4 females. There was an average age at surgery of 37 years, with a range from 8 to 79 years. The aetiologies included 6 patients with trauma to their medial rectus (4 following endoscopic sinus surgery) and 2 patients with paralytic medial rectus muscles secondary to 3rd nerve palsy. All patients underwent whole tendon transposition of the superior and inferior rectus muscles, with resection of both muscles in 7 cases, before reattachment adjacent to the upper and lower borders of the medial rectus, respectively. One patient had a reduced amount of resection and this was combined with inferior oblique disinsertion and traction sutures. All patients had a reduction in deviation in the primary position and in 5 patients there was some improvement in adduction. A consequence of surgery was a degree of limitation of abduction, elevation and depression in some patients. Overall, patients were satisfied with the improvement in their appearance.

  20. Temporal self-regulation of transposition through host-independent transposase rodlet formation

    PubMed Central

    Woodard, Lauren E.; Downes, Laura M.; Lee, Yi-Chien; Kaja, Aparna; Terefe, Eyuel S.; Wilson, Matthew H.

    2017-01-01

    Transposons are highly abundant in eukaryotic genomes, but their mobilization must be finely tuned to maintain host organism fitness and allow for transposon propagation. Forty percent of the human genome is comprised of transposable element sequences, and the most abundant cut-and-paste transposons are from the hAT superfamily. We found that the hAT transposase TcBuster from Tribolium castaneum formed filamentous structures, or rodlets, in human tissue culture cells, after gene transfer to adult mice, and ex vivo in cell-free conditions, indicating that host co-factors or cellular structures were not required for rodlet formation. Time-lapsed imaging of GFP-laced rodlets in human cells revealed that they formed quickly in a dynamic process involving fusion and fission. We delayed the availability of the transposon DNA and found that transposition declined after transposase concentrations became high enough for visible transposase rodlets to appear. In combination with earlier findings for maize Ac elements, these results give insight into transposase overproduction inhibition by demonstrating that the appearance of transposase protein structures and the end of active transposition are simultaneous, an effect with implications for genetic engineering and horizontal gene transfer. PMID:27899587

  1. Congenital parasitic infections: a review.

    PubMed

    Carlier, Yves; Truyens, Carine; Deloron, Philippe; Peyron, François

    2012-02-01

    This review defines the concepts of maternal-fetal (congenital) and vertical transmissions (mother-to-child) of pathogens and specifies the human parasites susceptible to be congenitally transferred. It highlights the epidemiological features of this transmission mode for the three main congenital parasitic infections due to Toxoplasma gondii, Trypanosoma cruzi and Plasmodium sp. Information on the possible maternal-fetal routes of transmission, the placental responses to infection and timing of parasite transmission are synthesized and compared. The factors susceptible to be involved in parasite transmission and development of congenital parasitic diseases, such as the parasite genotypes, the maternal co-infections and parasitic load, the immunological features of pregnant women and the capacity of some fetuses/neonates to overcome their immunological immaturity to mount an immune response against the transmitted parasites are also discussed and compared. Analysis of clinical data indicates that parasitic congenital infections are often asymptomatic, whereas symptomatic newborns generally display non-specific symptoms. The long-term consequences of congenital infections are also mentioned, such as the imprinting of neonatal immune system and the possible trans-generational transmission. The detection of infection in pregnant women is mainly based on standard serological or parasitological investigations. Amniocentesis and cordocentesis can be used for the detection of some fetal infections. The neonatal infection can be assessed using parasitological, molecular or immunological methods; the place of PCR in such neonatal diagnosis is discussed. When such laboratory diagnosis is not possible at birth or in the first weeks of life, standard serological investigations can also be performed 8-10 months after birth, to avoid detection of maternal transmitted antibodies. The specific aspects of treatment of T. gondii, T. cruzi and Plasmodium congenital infections are

  2. 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

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

    PubMed

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

    2017-03-01

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

  4. Prevalence of Congenital Heart Defects in Metropolitan Atlanta, 1998–2005

    PubMed Central

    Reller, Mark D.; Strickland, Matthew J.; Riehle-Colarusso, Tiffany; Mahle, William T.; Correa, Adolfo

    2008-01-01

    Objective To determine an accurate estimate of the prevalence of congenital heart defects (CHD) using current standard diagnostic modalities. Study design We obtained data on infants with CHD delivered during 1998–2005 identified by the Metropolitan Atlanta Congenital Defects Program, an active, population-based birth defects surveillance system. Physiologic shunts in infancy and shunts associated with prematurity were excluded. Selected infant and maternal characteristics of the cases were compared with those of the overall birth cohort. Results From 1998–2005 there were 398 140 births, of which 3240 infants had CHD, for an overall prevalence of 81.4/10 000 births. The most common CHD were muscular ventricular septal defect, perimembranous ventricular septal defect, and secundum atrial septal defect, with prevalence of 27.5, 10.6, and 10.3/10 000 births, respectively. The prevalence of tetralogy of Fallot, the most common cyanotic CHD, was twice that of transposition of the great arteries (4.7 vs. 2.3/10 000 births). Many common CHD were associated with older maternal age and multiple-gestation pregnancy; several were found to vary by sex. Conclusion This study, using a standardized cardiac nomenclature and classification, provides current prevalence estimates of the various CHD subtypes. These estimates can be used to assess variations in prevalence across populations, time or space. PMID:18657826

  5. Infection and white matter injury in infants with congenital cardiac disease.

    PubMed

    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

    2011-10-01

    More than 60% of newborns with severe congenital cardiac disease develop perioperative brain injuries. Known risk factors include: pre-operative hypoxemia, cardiopulmonary bypass characteristics, and post-operative hypotension. Infection is an established risk factor for white matter injury in premature newborns. In this study, we examined term infants with congenital cardiac 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 of 127 infants. Pre- and post-operative imaging was evaluated for acquired injury by a paediatric neuroradiologist. Overall, there was no difference in newly acquired post-operative white matter injury in infants with infection (30%), compared to those without (31%). 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.

  6. 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

  7. Signs and Symptoms of Congenital Heart Defects

    MedlinePlus

    ... heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  8. How Are Congenital Heart Defects Treated?

    MedlinePlus

    ... heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  9. How Are Congenital Heart Defects Diagnosed?

    MedlinePlus

    ... heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  10. 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: ...

  11. 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.

  12. 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 ...

  13. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm 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. Genetics Home Reference: congenital leptin deficiency

    MedlinePlus

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions congenital leptin deficiency congenital leptin ...

  15. Genetics Home Reference: congenital nephrotic syndrome

    MedlinePlus

    ... 4 links) Great Ormond Street Hospital for Children (UK) MedlinePlus Encyclopedia: Congenital Nephrotic Syndrome MedlinePlus Encyclopedia: End- ... Version National Health Service: Nephrotic Syndrome in Children (UK) Orphanet: Congenital nephrotic syndrome, Finnish type Patient Support ...

  16. Treatment Options for Congenital Pigmented Nevus

    MedlinePlus

    ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ...

  17. Congenital nasal pyriform aperture stenosis: diagnosis and management

    PubMed Central

    2012-01-01

    Background Congenital nasal pyriform aperture stenosis is a rare and potentially lethal form of airway obstruction in newborns. Immediate recognition and appropriate therapy are mandatory for this potentially life-threating condition. This anomaly may present as an isolated malformation or may be associated with other cranial-facial anomalies. Clinically, CNPS shows unspecific symptoms of nasal airway obstruction such as apnoic crisis, episodic cyanosis and inability to nurse. The purpose of this report is to present author's experience in the surgical management of this rare pathology in 3 patients. Patients and Methods Three cases of congenital nasal pyriform aperture stenosis were reviewed for presentation of the disorder, management and effectiveness of the surgical treatment. Results All the patients underwent a surgical correction of the pyriform aperture stenosis using a sublabial approach followed by nasal stenting. During the follow-up no cases of restenosis, respiratory failure or cyanosis were detected. Conclusions Congenital pyriform aperture stenosis should be suspected in newborns with clinical signs of severe nasal obstruction associated with a difficulty to pass a small catheter though the anterior nasal valve. Timely recognition is mandatory to prevent a potential deadly outcome. Surgical correction of the stenosis though a sublabial approach followed by a nasal stenting revealed to be most effective treatment for these patients. PMID:22731387

  18. 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.

  19. 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

  20. Late Atrio-ventricular Block After Arterial Switch for D-transposition of the Great Vessels With Intact Interventricular Septum

    PubMed Central

    Caudron, Guillaume; Hascoet, Sebastien; Dulac, Yves; Maury, Philippe

    2011-01-01

    Arterial switch operation for transposition of the great arteries without ventricular septal defect usually does not lead to atrio-ventricular conduction disturbances. We discuss the case of a young boy presenting with first and second degree supra hisian atrio-ventricular block late after switch operation.

  1. Vision following extended congenital blindness.

    PubMed

    Ostrovsky, Yuri; Andalman, Aaron; Sinha, Pawan

    2006-12-01

    Animal studies suggest that early visual deprivation can cause permanent functional blindness. However, few human data on this issue exist. Given enough time for recovery, can a person gain visual skills after several years of congenital blindness? In India, we recently had an unusual opportunity to work with an individual whose case history sheds light on this question. S.R.D. was born blind, and remained so until age 12. She then underwent surgery for the removal of dense congenital cataracts. We evaluated her performance on an extensive battery of visual tasks 20 years after surgery. We found that although S.R.D.'s acuity is compromised, she is proficient on mid- and high-level visual tasks. These results suggest that the human brain retains an impressive capacity for visual learning well into late childhood. They have implications for current conceptions of cortical plasticity and provide an argument for treating congenital blindness even in older children.

  2. Congenital nystagmus and negative electroretinography

    PubMed Central

    Roussi, Mirella; Dalens, Hélène; Marcellier, Jean Jacques; Bacin, Franck

    2011-01-01

    Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17–18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB). This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina. PMID:21573087

  3. Adult Congenital Heart Disease in Pregnancy.

    PubMed

    Lindley, Kathryn J; Conner, Shayna N; Cahill, Alison G

    2015-06-01

    With the success of modern surgical techniques for congenital heart disease, the population of women of childbearing age with congenital heart disease is growing. Because of the significant hemodynamic load of pregnancy, labor, and delivery, women with congenital heart disease require preconceptual risk assessment and expert multidisciplinary care throughout pregnancy. The aim of this review is to discuss the management of cardiovascular, obstetric, and fetal care issues that are commonly encountered during pregnancy in women with congenital heart disease.

  4. Large-Scale Transposition Mutagenesis of Streptomyces coelicolor Identifies Hundreds of Genes Influencing Antibiotic Biosynthesis.

    PubMed

    Xu, Zhong; Wang, Yemin; Chater, Keith F; Ou, Hong-Yu; Xu, H Howard; Deng, Zixin; Tao, Meifeng

    2017-03-15

    Gram-positive Streptomyces bacteria produce thousands of bioactive secondary metabolites, including antibiotics. To systematically investigate genes affecting secondary metabolism, we developed a hyperactive transposase-based Tn5 transposition system and employed it to mutagenize the model species Streptomyces coelicolor, leading to the identification of 51,443 transposition insertions. These insertions were distributed randomly along the chromosome except for some preferred regions associated with relatively low GC content in the chromosomal core. The base composition of the insertion site and its flanking sequences compiled from the 51,443 insertions implied a 19-bp expanded target site surrounding the insertion site, with a slight nucleic acid base preference in some positions, suggesting a relative randomness of Tn5 transposition targeting in the high-GC Streptomyces genome. From the mutagenesis library, 724 mutants involving 365 genes had altered levels of production of the tripyrrole antibiotic undecylprodigiosin (RED), including 17 genes in the RED biosynthetic gene cluster. Genetic complementation revealed that most of the insertions (more than two-thirds) were responsible for the changed antibiotic production. Genes associated with branched-chain amino acid biosynthesis, DNA metabolism, and protein modification affected RED production, and genes involved in signaling, stress, and transcriptional regulation were overrepresented. Some insertions caused dramatic changes in RED production, identifying future targets for strain improvement.IMPORTANCE High-GC Gram-positive streptomycetes and related actinomycetes have provided more than 100 clinical drugs used as antibiotics, immunosuppressants, and antitumor drugs. Their genomes harbor biosynthetic genes for many more unknown compounds with potential as future drugs. Here we developed a useful genome-wide mutagenesis tool based on the transposon Tn5 for the study of secondary metabolism and its regulation

  5. Leber's congenital amaurosis: an update.

    PubMed

    Fazzi, Elisa; Signorini, Sabrina Giovanna; Scelsa, Barbara; Bova, Stefania Maria; Lanzi, Giovanni

    2003-01-01

    Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss of vision at birth. It accounts for 10-18% of cases of congenital blindness. Some patients exhibit only blindness of retinal origin whereas others show evidence of a multi-systemic involvement. We review the literature relating to this severe disorder, highlighting unresolved questions, in particular the nature of the association of LCA with mental retardation and with systemic findings and syndromic pictures. In recent years, genetic advances in the diagnosis of LCA have opened up new horizons, also from a therapeutic point of view. A better understanding of this pathology would be valuable for paediatric neurologists.

  6. Leber's congenital amaurosis as conceived by Leber.

    PubMed

    Pinckers, A J

    1979-01-01

    Not being satisfied with the present-day diagnosis of Leber's congenital amaurosis, the original papers written by Leber were studied. It gradually became clear that what Leber had in mind with congenital amaurosis is roughly the same as what we know as neuronal ceroid lipofuscinosis. The present diagnosis of Leber's congenital amaurosis is not a clinical syndrome but an aspecific symptom complex.

  7. Accelerate Genomic Aging in Congenital Neutropenia

    DTIC Science & Technology

    2015-08-01

    myeloid leukemia (AML) is perhaps the major clinical concern in patients with severe congenital neutropenia (SCN) and Shwachman- Diamond syndrome (SDS... Diamond syndrome (SDS), cyclic neutropenia, or age-matched healthy controls. Aim 2. To determine whether increased G-CSF signaling accelerates the...agents, such as radiation. 2. KEYWORDS Congenital neutropenia Severe congenital neutropenia Shwachman Diamond syndrome Cyclic neutropenia

  8. Congenital Hemifacial Hyperplasia: Clinical Presentation and Literature Review.

    PubMed

    Shanmugasundaram, Karpagavalli; Vedam, V K Vaishnavi; Ganapathy, Sivadas; Sathish, Sivan; Satti, Parvathi

    2016-01-01

    Hemifacial hyperplasia is a rare congenital malformation characterized by noticeable unilateral excess development of hard and soft tissues of the face. Asymmetry in Congenital Hemifacial Hyperplasia (CHH) is usually evident at birth and accentuated at the age of puberty. The affected side grows exponentially as compared to the unaffected side. Multiple tissue involvement has resulted due to etiological heterogeneity like heredity, chromosomal abnormalities, altered intrauterine environment, and endocrine dysfunctions. As this lesion is rarely seen in our routine clinical practice, we present a case of hemifacial hyperplasia with reported orofacial features that supplement existing clinical knowledge. This paper also adds knowledge to the readers regarding detailed investigation procedures which has complemented our diagnosis. Further emphasis has been placed on periodic approach to its diagnosis and multidisciplinary management following correct diagnosis.

  9. 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.

  10. Congenital Hemifacial Hyperplasia: Clinical Presentation and Literature Review

    PubMed Central

    Shanmugasundaram, Karpagavalli; Ganapathy, Sivadas; Sathish, Sivan; Satti, Parvathi

    2016-01-01

    Hemifacial hyperplasia is a rare congenital malformation characterized by noticeable unilateral excess development of hard and soft tissues of the face. Asymmetry in Congenital Hemifacial Hyperplasia (CHH) is usually evident at birth and accentuated at the age of puberty. The affected side grows exponentially as compared to the unaffected side. Multiple tissue involvement has resulted due to etiological heterogeneity like heredity, chromosomal abnormalities, altered intrauterine environment, and endocrine dysfunctions. As this lesion is rarely seen in our routine clinical practice, we present a case of hemifacial hyperplasia with reported orofacial features that supplement existing clinical knowledge. This paper also adds knowledge to the readers regarding detailed investigation procedures which has complemented our diagnosis. Further emphasis has been placed on periodic approach to its diagnosis and multidisciplinary management following correct diagnosis. PMID:27843653

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

    PubMed

    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.

  12. 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

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

    PubMed Central

    Harsono, Mimily; Pourcyrous, Massroor

    2015-01-01

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

  14. Fetal Growth and Neurodevelopmental Outcome in Congenital Heart Disease

    PubMed Central

    Fifer, William P.; Andrews, Howard

    2017-01-01

    We evaluated differences in growth between fetuses with and without congenital heart disease (CHD) and tested associations between growth and early childhood neurodevelopment (ND). In this prospective cohort study, fetuses with hypoplastic left heart syndrome (HLHS), transposition of the great arteries (TGA), and tetralogy of Fallot (TOF) and controls had biparietal diameter (BPD), head (HC) and abdominal circumference (AC), femur length (FL), and estimated fetal weight (EFW) recorded serially during pregnancy at 18and controls were assessed using–26 weeks GA (F1), at 27–33 weeks GA (F2), and at 34–40 weeks GA (F3). CHD subjects underwent Bayley Scales of Infant Development-III ND testing at 18 months. Differences between CHD fetuses and controls were assessed using t tests and generalized linear modeling. Correlations between biometry and ND informed regression modeling. We enrolled 41 controls and 68 fetuses with CHD (N = 24 HLHS, N = 21 TGA, N = 23 TOF), 46 of whom had ND scores available. At 18–26 weeks, CHD fetuses were smaller than controls in all biometric parameters. Differences in growth rates were observed for HC, BPD, and AC, but not for FL or EFW. Cognitive score correlated with HC/AC at F2 (r = −0.33, P = 0.04) and mean HC/AC across gestation (r = −0.35, P = 0.03). Language correlated with FL/BPD at F2 (r = 0.34, P = 0.04). In stepwise linear regression, mean HC/AC predicted Cognition (B = −102, P = 0.026, R2 = 0.13) and FL/BPD at F2 predicted Language score (B = 127, P = 0.03, R2 = 0.12). Differences in growth between CHD fetuses and controls can be measured early in pregnancy. In CHD fetuses, larger abdominal relative to head circumference is associated with better 18-month neurodevelopment. PMID:25753684

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

    PubMed Central

    Singh, Harpreet; Thakkar, Surbhi

    2016-01-01

    Complete transposition of teeth is a rather rare phenomenon. After correction of transposed and malaligned lateral incisor and canine, attainment of appropriate individual antagonistic tooth torque is indispensable, which many orthodontists consider to be a herculean task. Here, a novel method is proposed which demonstrates the use of Spec reverse torquing auxillary as an effective adjunctive aid in conjunction with pre-adjusted edgewise brackets. PMID:28209017

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

    PubMed

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

    2016-12-01

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

  17. Electromyographical, ultrasonographical and morphological modifications in semitendinous muscle after transposition as ventral perineal muscle flap.

    PubMed

    Mortari, A C; Rahal, S C; Resende, L A L; Dal-pai-silva, M; Mamprim, M J; Corrêa, M A; Antunes, S H S

    2005-09-01

    The aim of this study was to evaluate modifications occurring in semitendinous muscle after transposition as a ventral perineal muscle flap using electromyography, ultrasonography, and morphological studies. Ten male crossbreed dogs of 3-4 year old were used. The left semitendinous muscle was cut close to the popliteus lymph node, rotated and sutured at the perineal region. The contralateral muscle was considered as control. Motor nerve conduction studies of both sciatic-tibial nerves, and electromyographic and ultrasonographic examinations of both semitendinous muscles were performed before surgery and 15, 30, 60, and 90 days postoperatively. Semitendinous muscle samples were collected for morphological analysis 90 days after surgery. No alterations were observed in clinical gait examinations, or in goniometrical and electroneuromyographical studies in pelvic limbs after surgery. Electromyography demonstrated that the transposed muscle was able to contract, but atrophy was detected by ultrasonography and morphological analysis.

  18. [Long-term results of pisiform bone transposition in lunate necrosis].

    PubMed

    Erbs, G; Böhm, E

    1984-06-01

    Kienböcks disease is one of the most frequent manifestations of avascular necrosis. Multiple different surgical and conservative methods for treatment have been described. The transposition of pisiform on its vascular pedicle to replace the reamed out necrotic portion of the lunate has permitted revascularization and healing of the lunate. In the following article, the operative technique is described and the results of a five year follow-up study on 32 patients who underwent this operation are presented. On the basis of this study, we found, even in advanced cases of Kienböcks disease, that 50% of the 14 followed-up patients became free of symptoms or had pain only under stressful conditions.

  19. Technique of Dorsal Transversely Oriented Transposition Flap for Web Reconstruction in Toe Syndactyly Surgery.

    PubMed

    Saito, Susumu; Suzuki, Yoshihisa; Suzuki, Shigehiko

    2015-01-01

    In toe desyndactyly, a dorsal or plantar commissural flap, combined with skin grafts, will ensure an acceptable result. However, the parallel unsightly scars in the longitudinal direction on the dorsum of the toes will sometimes fail to satisfy the patient's and/or the parents' aesthetic expectations. To address this issue, we developed a technique using a transversely oriented transposition flap for web reconstruction, which can spare the dorsal interdigital skin maximally to shift the dorsal scars plantarly such that they become inconspicuous. The design of the flap is simple and uncomplicated surgically. Moreover, the donor site morbidity is minimal, owing to the good healing potential of the transverse scars. This technique could be an alternative in web reconstruction of toe desyndactyly, especially in cases with high cosmetic priority.

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

    PubMed Central

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

    1991-01-01

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

  1. Long-term results of arterial switch repair of transposition of the great vessels.

    PubMed

    Blume, Elizabeth D.; Wernovsky, Gil

    1998-01-01

    The arterial switch operation has become the preferred surgical procedure for transposition of the great arteries worldwide. The low operative mortality at "low-risk" institutions has been well documented. The advantages of the arterial switch compared with atrial-level repairs include a lower incidence of arrhythmias and the likelihood of normal systemic ventricular function over the long term. However, the long-term sequelae of this operation must be continually evaluated, including the fate of the supravalvular pulmonary and aortic anastomoses, growth of the aortic root, competency of the neoaortic valve, patency of the coronary arteries, effects on the conduction system, and adequacy of ventricular function. These anatomic results, as well as the neurodevelopmental outcomes of these patients, are summarized in this review. Copyright 1998 by W.B. Saunders Company

  2. [Long-term results of 156 Mustard operations for simple transposition of the great vessels].

    PubMed

    Landau, J F; Sidi, D; Batisse, A; Kachaner, J

    1978-05-01

    156 children with simple transposition of the great vessels have been operated on by Mustard's technique between 1-6-1967 and 31-12-1976, with an immediate overall mortality rate of 8%. In the longterm, the 9% of late deaths and more especially the complications are regrettable; complications were either of severe arrhythmia (almost 30%) leading to 2 late deaths and 7 pacemaker implantations, or venous obstruction relating to problems with the patch (25%). Despite the improved techniques and consequent reduction in surgical mortality and late complications, longterm prognosis is still unsure because of the unknown fate of the intra-atrial partition, and that of the "passive" rhythms which are so commonly found after this type of surgery.

  3. Deletion of a HoxD enhancer induces transcriptional heterochrony leading to transposition of the sacrum.

    PubMed Central

    Zákány, J; Gérard, M; Favier, B; Duboule, D

    1997-01-01

    A phylogenetically conserved transcriptional enhancer necessary for the activation of Hoxd-11 was deleted from the HoxD complex of mice by targeted mutagenesis. While genetic and expression analyses demonstrated the role of this regulatory element in the activation of Hoxd-11 during early somitogenesis, the function of this gene in developing limbs and the urogenital system was not affected, suggesting that Hox transcriptional controls are different in different axial structures. In the trunk of mutant embryos, transcriptional activation of Hoxd-11 and Hoxd-10 was severely delayed, but subsequently resumed with appropriate spatial distributions. The resulting caudal transposition of the sacrum indicates that proper vertebral specification requires a precise temporal control of Hox gene expression, in addition to spatial regulation. A slight time delay in expression (transcriptional heterochrony) cannot be compensated for at a later developmental stage, eventually leading to morphological alterations. PMID:9250683

  4. Transposition of two different intracisternal A particle elements into an immunoglobulin kappa-chain gene.

    PubMed Central

    Hawley, R G; Shulman, M J; Hozumi, N

    1984-01-01

    Each of two severely defective mouse kappa-chain genes has acquired a different intracisternal A particle (IAP) element within one of its introns. One IAP element generated 6-base-pair direct repeats upon insertion. In contrast, the other IAP element was not flanked by direct repeats and was missing a single nucleotide from its 3' terminus. Sequence analysis of the latter IAP element demonstrated that its long terminal repeats were not identical. Nevertheless, the long terminal repeats were organized like proviral long terminal repeats, and this IAP element did contain two regions that were analogous to retroviral priming sites for RNA-directed DNA synthesis. The region that corresponded to a retroviral tRNA primer binding site was complementary to the 3' ends of all mammalian phenylalanine tRNAs. These findings are discussed in the context of the presumed mode of transposition of IAP elements involving the reverse transcription of IAP RNA. Images PMID:6098810

  5. 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.

  6. Adipose Flap Versus Fascial Sling for Anterior Subcutaneous Transposition of the Ulnar Nerve.

    PubMed

    Verveld, Caroline J; Danoff, Jonathan R; Lombardi, Joseph M; Rosenwasser, Melvin P

    2016-02-01

    Perineural scarring is a major cause of recurrent symptoms after anterior subcutaneous transposition secured with a fascial sling. Use of a vascularized adipose flap to secure the anteriorly transposed ulnar nerve can help reduce nerve adherence and may enhance nerve recovery. In the study reported here, we retrospectively reviewed the long-term outcomes of ulnar nerve anterior subcutaneous transposition secured with either an adipose flap (16 patients) or a fascial sling (17 patients). The 33 patients underwent physical examinations and completed the DASH (Disabilities of the Arm, Shoulder, and Hand) questionnaire, visual analog scales (VASs), and the Modified Bishop Rating Scale (MBRS). There were no significant differences in DASH (P = .673), VAS pain (P = .413), or VAS weakness (P = .362) scores between the adipose flap and fascial sling groups. Physical examinations revealed no significant differences in flexion-extension arc (P = .668) or supination-pronation arc (P = .226) between the operated and nonoperated extremities. Lateral pinch strength and grip strength were comparable. On the MBRS, excellent and good outcomes were reported by 62.5% and 37.5% of the adipose flap patients, respectively, and 59% and 41% of the fascial sling patients. The contribution of perineural scarring to postoperative recurrent ulnar neuropathy is well documented. We think the pedicled adipofascial flap benefits the peripheral nerve by providing a scar tissue barrier and an optimal milieu for vascular regeneration. For all patients in the present study, symptoms improved, though the adipose flap and fascial sling groups were not significantly different in their objective outcomes. Subjective results were slightly better for the adipose flap patients but not significantly so. These findings indicate that, compared with the current standard of care, adipose flaps are more efficacious in securing the anteriorly transposed nerve.

  7. 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

  8. Congenital Absence of the Pericardium

    PubMed Central

    Kim, Hyun-Jin; Cho, Goo-Yeong; Choi, Sang Il

    2014-01-01

    Congenital absence of the pericardium is a rare cardiac malformation and is most often asymptomatic. It is usually discovered as an incidental finding. Physical examination, chest radiography, and electrocardiogram are often unremarkable. Echocardiography provides valuable information, and sometimes computed tomography or magnetic resonance imaging is needed for subsequent confirmation. PMID:24753808

  9. Exercise in children with common congenital heart lesions: balancing benefits with risks.

    PubMed

    Halliday, Melanie; Selvadurai, Hiran; Sherwood, Megan; Fitzgerald, Dominic A

    2013-10-01

    Children with corrected common congenital heart lesions are often withheld from regular exercise by their parents. While there are some modest risks with exercise, they should be seen in perspective, and the life-long benefits of regular exercise on general health, mood and well-being should be emphasised.

  10. Lengthening and reconstruction of congenital leg deficiencies for enhanced prosthetic wear.

    PubMed

    Tellisi, Nazzar; Fragomen, Austin T; Ilizarov, Svetlana; Rozbruch, S Robert

    2008-02-01

    Congenital limb deficiencies with severe shortening and/or deformity can be difficult to fit with a prosthesis. We report two patients in whom gradual lengthening and deformity correction with the Ilizarov/Taylor spatial frame was used to improve prosthesis fit, comfort, and gait.

  11. Treatment of congenital aniridia associated with subluxated infantile cataract.

    PubMed

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

    2014-01-01

    A 5 year old boy was presented at Eye clinic University clinical center Tuzla with congenital aniridia in both eyes. Clinical examination revealed visual acuity of 0.08 without correction in right and 0.7 with -5.0 Dsph and -1.0 Dcyl Axx 109 degrees in left eye. Opthalmologic examination showed bilateral aniridia associated with moderate cataract in the right and incipient cataract in the left eye. In the right eye, zonular weakness with incipient capsular displacement and esotropia of delta6 degrees, were noted. The patient underwent phacoemulsification, implantation of capsular tension ring and Artificial Iris implant in the capsular bag. Phacoemulsification went uneventful and early postoperative recovery was successful with no signs of aniridia-associated keratopathy development and normal values of intra ocular pressure. Patient was not motivated for operation of the left eye and it was corrected with soft contact lens. Six month after the operation visual acuity in the right eye improved to 0.9 with +1.25 Dsph and maintained stable in left eye, with complete elimination of esotropia and signs of binocular vision restoration. Small incision cataract extraction with IOL and Artificial Iris implantation in one procedure can be used to correct congenital aniridia and cataract with significant visual function improvement.

  12. Treatment of congenital aniridia associated with subluxated infantile cataract.

    PubMed

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

    2014-06-01

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

  13. 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.

  14. Incorrect ventricular lead placement into the systemic right ventricle of a patient with D-transposition of the great vessels after Mustard procedure.

    PubMed

    Powell, Adam W; Kimball, Thomas R

    2016-08-30

    Incorrect pacemaker lead placement into the systemic ventricle is a complication that has rarely been described in patients with D-transposition status after atrial baffle palliation. We present a case of ventricular lead misplacement in the systemic right ventricle of a patient with D-transposition of the great arteries after Mustard procedure. This case demonstrates the challenges with proper imaging of lead placement in patients with atrial baffles and long-term management of a lead in the systemic ventricle.

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

    PubMed

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

    1999-07-01

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

  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. 77 FR 72199 - Technical Corrections; Correction

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-12-05

    ... COMMISSION 10 CFR Part 171 RIN 3150-AJ16 Technical Corrections; Correction AGENCY: Nuclear Regulatory... corrections, including updating the street address for the Region I office, correcting authority citations and... rule. DATES: The correction is effective on December 5, 2012. FOR FURTHER INFORMATION CONTACT:...

  18. 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.

  19. 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

  20. 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.

  1. [Results of partial splenic resection and transposition to the lateral abdominal wall in portal hypertension in childhood].

    PubMed

    Bennek, J; Tröbs, R B; Mühlig, K; Richter, T

    1996-01-01

    Between 1977 and 1995, 19 children with portal hypertension (nine extrahepatic, ten intrahepatic) were treated by transpositioning the spleen into the left abdominal wall. Among the patients with intrahepatic portal hypertension three died. Two patients underwent secondary diminuition of the transposed spleen due to relapsed hypersplenism. In one of our first patients the transposed spleen atrophied after tangential resection. All surviving patients except one preserved hepatic function. The serum colloid osmotic pressure was stable. Plasma ammonia levels were normal. Serum immunoglobulins (IgG, IgM, IgA and IgG subclasses) and complement components (C3c, C4) were analyzed. After transposition patients had normal or slightly elevated values of these proteins compared with controls.

  2. Anterior transposition of the inferior oblique muscle as the initial treatment of a snapped inferior rectus muscle.

    PubMed

    Aguirre-Aquino, B I; Riemann, C D; Lewis, H; Traboulsi, E I

    2001-02-01

    Snapping or tearing of an extraocular muscle refers to its rupture across its width, usually at the junction between muscle and tendon several millimeters behind the insertion. Tearing occurs during strabismus or retinal reattachment surgery, or after trauma. If the proximal end of the muscle cannot be located, transposition procedures are necessary to achieve ocular realignment. These surgical procedures carry the risk of anterior segment ischemia, especially in the elderly. Anterior transposition of the inferior oblique muscle has been used for the treatment of inferior oblique overaction, especially in the presence of a dissociated vertical deviation, and in patients with fourth nerve palsy. We transposed the inferior oblique muscle insertion in a 73-year-old woman with a snapped inferior rectus muscle.

  3. The changing occurrences of tetralogy of Fallot and simple transposition of the great arteries in Southern Nevada.

    PubMed

    Evans, William N; Acherman, Ruben J; Castillo, William J; Restrepo, Humberto

    2011-06-01

    We analysed the occurrence of tetralogy of Fallot and simple transposition in the Hispanic and non-Hispanic populations of Clark County, Nevada, in the United States of America over a 30-year period from 1980 to 2009. We found a downward trend in the incidence of simple transposition of the great arteries in the non-Hispanic population but an upward trend in the incidence in the Hispanic population. For tetralogy of Fallot, we found an upward trend in the incidence in both populations; the trend, however, was more dramatic in the Hispanic population. We also noted differences in the male to female ratios in the different groups. Even though we make no definitive conclusions regarding the causes of these incidence curves or the differences in occurrence between males or females, the data suggest an interplay of genetics and the environment.

  4. [Congenital ranula in a newborn].

    PubMed

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

    2007-05-01

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

  5. Congenital syphilis: The continuing scourge

    PubMed Central

    Agrawal, Prachi G.; Joshi, Rajesh; Kharkar, Vidya D.; Bhaskar, M. V.

    2014-01-01

    Congenital syphilis is a severe, disabling infection that occurs due to the transmission of Treponema pallidum across the placenta during pregnancy or from contact with an infectious genital lesion during delivery. However, its early diagnosis is often difficult because more than half of the affected infants are asymptomatic, and the signs in symptomatic infants may be subtle and nonspecific. Although its incidence is declining, this long-forgotten disease continues to affect pregnant women, resulting in considerable perinatal morbidity and mortality. We hereby report a case of a 2-month-old infant with early congenital syphilis presenting with joint swellings and Parrot's pseudoparalysis, a comparative rarity in the present scenario. The report also stresses upon the importance of implementing the Centres for Disease Control and Prevention recommendation that all the pregnant women should be screened for syphilis in the first antenatal visit in the first trimester and again in late pregnancy. PMID:26396451

  6. 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.

  7. Genetics of Congenital Heart Disease

    PubMed Central

    Richards, Ashleigh A; Garg, Vidu

    2010-01-01

    Cardiovascular malformations are the most common type of birth defect and result in significant mortality worldwide. The etiology for the majority of these anomalies remains unknown but genetic factors are being recognized as playing an increasingly important role. Advances in our molecular understanding of normal heart development have led to the identification of numerous genes necessary for cardiac morphogenesis. This work has aided the discovery of an increasing number of monogenic causes of human cardiovascular malformations. More recently, studies have identified single nucleotide polymorphisms and submicroscopic copy number abnormalities as having a role in the pathogenesis of congenital heart disease. This review discusses these discoveries and summarizes our increasing understanding of the genetic basis of congenital heart disease. PMID:21532774

  8. Congenital heart disease in pregnancy.

    PubMed

    Swan, Lorna

    2014-05-01

    The story of congenital heart disease is one of the major successes of medicine in the last 50 years. Heart conditions previously associated with early death are now successfully treated. Many of these women are now in their child-bearing years wishing to have children of their own. All of these women should be offered comprehensive pre-conception counselling by a dedicated multi-disciplinary team. Each woman will present a unique set of cardiac and obstetric challenges that require an individualised assessment of risk and a carefully documented care plan. In this chapter, I describe the most common forms of congenital heart disease and the specific issues that should be assessed before conception. I present a systematic approach to risk stratification and care planning. These lesions range from mild disease with little implications for pregnancy to those with a sizable risk of maternal mortality or complications. I will also discuss fetal risk factors.

  9. Congenital myotonia in related kittens.

    PubMed

    Hickford, F H; Jones, B R; Gething, M A; Pack, R; Alley, M R

    1998-06-01

    Four closely related domestic shorthair kittens were investigated following the detection of abnormalities in their gait, difficulty opening their mouths and muscle hypertrophy. They walked with a stiff, stilted gait, with the stiffness reducing during exercise. Startling of the kittens resulted in hyperextension of the limbs and falling to lateral recumbency, or spasm of the orbicularis oculi muscle, prolonged prolapse of the nictitating membranes and flattening of the ears. One kitten was intermittently dysphonic. Endotracheal intubation of the anaesthetised kittens was difficult due to an inability to open the mouth to a wide angle, and narrowing of the glottis due to muscle spasm. A diagnosis of congenital myotonia was made based on the clinical signs, the kittens' ages, typical myotonic discharges on electromyography, and the histopathological and histochemical findings in muscle. This is the first report of congenital myotonia in this species.

  10. 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.

  11. [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.

  12. 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.

  13. 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.

  14. [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.

  15. Congenital deficiency of factor VII.

    PubMed

    Sikka, M; Gomber, S; Madan, N; Rusia, U; Sharma, S

    1996-01-01

    A case of congenital factor VII deficiency in a five-year-old child is reported. The patient, born of a non-consanguineous marriage, presented with repeated bouts of epistaxis since childhood. The prothrombin time (PT) was markedly prolonged with a normal bleeding time (BT), partial thromboplastin time with Kaolin (PTTK) and platelet count. The patient has been on follow up for the last four years and is doing apparently well.

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

    PubMed Central

    Juodzbalys, Gintaras

    2015-01-01

    ABSTRACT Objectives This article, the second in a two-part series, continues the discussion of inferior alveolar nerve lateralization/transposition for dental implant placement. The aim of this article is to review the scientific literature and clinical reports in order to analyse the neurosensory complications, risks and disadvantages of lateralization/transposition of the inferior alveolar nerve followed by implant placement in an edentulous atrophic posterior mandible. Material and Methods A comprehensive review of the current literature was conducted according to the PRISMA guidelines by accessing the NCBI PubMed and PMC databases, as well as academic sites and books. The articles were searched from January 1997 to July 2014. Articles in English language, which included adult patients between 18 - 80 years of age who had minimal residual bone above the mandibular canal and had undergone inferior alveolar nerve (IAN) repositioning, with minimum 6 months of follow-up, were included. Results A total of 21 studies were included in this review. Ten were related to IAN transposition, 7 to IAN lateralization and 4 to both transposition and lateralization. The IAN neurosensory disturbance function was present in most patients (99.47% [376/378]) for 1 to 6 months. In total, 0.53% (2/378) of procedures the disturbances were permanent. Conclusions Inferior alveolar nerve repositioning is related to initial transient change in sensation in the majority of cases. The most popular causes of nerve damage are spatula-caused traction in the mucoperiosteal flap, pressure due to severe inflammation or retention of fluid around the nerve and subsequent development of transient ischemia, and mandibular body fracture. PMID:25937874

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

    PubMed

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

    2016-03-01

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

  18. Transcatheter occlusion of baffle leaks following atrial switch procedures for transposition of the great vessels (d-TGV).

    PubMed

    Balzer, David T; Johnson, Mark; Sharkey, Angela M; Kort, Henry

    2004-02-01

    Baffle-related complications following atrial switch procedures for transposition are relatively common. Transcatheter treatment of baffle stenosis has an established role as a therapeutic modality. However, transcatheter device closure of atrial baffles leaks has rarely been reported. We report four patients who underwent device closure of baffle leaks using the Amplatzer septal occluder following atrial switch procedures in order to demonstrate the safety and utility of this method of treatment and to establish its role as a suitable alternative to surgical closure.

  19. Vestibular abnormalities in congenital disorders.

    PubMed

    Sando, I; Orita, Y; Miura, M; Balaban, C D

    2001-10-01

    This paper reviews the histopathologic features of vestibular abnormalities in congenital disorders affecting the inner ear, based upon a comprehensive literature survey and a review of cases in our temporal bone collection. The review proceeds in three systematic steps. First, we surveyed associated diseases with the major phenotypic features of congenital abnormalities of the inner ear (including the internal auditory canal and otic capsule). Second, the vestibular anomalies are examined specifically. Finally, the anomalies are discussed from a developmental perspective. Among vestibular anomalies, a hypoplastic endolymphatic duct and sac are observed most frequently. Anomalies of the semicircular canals are also often observed. From embryological and clinical viewpoints, many of these resemble the structural features from fetal stages and appear to be associated with vestibular dysfunction. It is expected that progress in genetic analysis and accumulation of temporal bone specimens with vestibular abnormalities in congenital diseases will provide crucial information not only for pathology of those diseases, but also for genetic factors that are responsible for the specific vestibular abnormalities.

  20. Pulmonary hypertension in congenital shunts.

    PubMed

    Beghetti, Maurice; Tissot, Cecile

    2010-10-01

    Pulmonary arterial hypertension frequently arises in patients with congenital heart disease. The vast majority present with congenital cardiac shunts. Initially these may manifest as left-to-right (i.e. systemic-to-pulmonary) shunts. The natural history of disease progression involves vascular remodeling and dysfunction that lead to increased pulmonary vascular resistance and, finally, to the development of Eisenmenger's syndrome, which is the most advanced form. The anatomical, pathological and structural abnormalities occurring in the pulmonary circulation of these patients are, to some extent, similar to those observed in other forms of pulmonary arterial hypertension. This understanding has recently led to significant changes in the management of Eisenmenger's syndrome, with the introduction of treatment specifically targeting pulmonary vascular disease. Early closure of the cardiac shunt remains the best way of preventing pulmonary vascular lesions. However, it is still not clear which preoperative parameters predict safe and successful repair, though hemodynamic evaluation is still routinely used for assessment. Postoperative pulmonary hypertension, both in the immediate period after surgical repair and during long-term follow-up, remains a real therapeutic challenge. The clinical situation of a single ventricle with Fontan circulation also presents difficulties when pulmonary vascular lesions are present. This article reviews pulmonary hypertension associated with congenital shunts and discusses a number of the specific problems encountered.

  1. 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

  2. [Complete D-transposition of the great vessels diagnosed late in a 10-month infant. Rashkind manoeuvre].

    PubMed

    Diop, I B; Ba, S A; Dieye, O; Sarr, M; Kane, A; Hane, L; Diame, H; Sow, D; Fall, M; Diouf, S M

    1997-01-01

    We report a first documented case in Senegal with simple transposition of the great arteries diagnosed in a 2 months old girl treated by Rashkind atrioseptostomy. Our patient benefited from clinical examination, ECG (15 derivations), chest X ray and standard laboratory tests. Pulsed-Doppler, two dimensional and TM echocardiography have been performed with an ATL MK 600 echocardiograph. Cardiac catheterism, angiocardiography and Rashkind procedure have been realized in our Department. These data are discussed and compared to the literature. At admission this patient presents with major cyanosis and polypnea. At examination, there is a 3/6 murmur at the left sternal border and a subclavicular continuous murmur. Laboratory tests showed metabolic acidosis and severe hypoxemia. Chest x-ray showed a cardio-thoracic ratio at 0.64 with increased pulmonary vascular markings. ECG showed right ventricular hypertrophy. Echocardiography-Doppler revealed ventriculo-arterial discordance with restrictive atrial septal defect and persistent ductus arteriosus. Rashkind procedure was followed by an increased aortic saturation. After 6 weeks there was an improvement of cyanosis and cardiac failure. Diagnosis of transposition of the great arteries is actually easier with development of ultrasonography which is useful when performed by experienced cardiologist. Spontaneous prognosis of this malformation is very poor. Rashkind atrioseptostomy is an important step for the initial treatment of transposition of the great arteries in terms of survival before open heart surgery.

  3. Recent transposition of yabusame, a novel piggyBac-like transposable element in the genome of the silkworm, Bombyx mori.

    PubMed

    Daimon, Takaaki; Mitsuhiro, Masao; Katsuma, Susumu; Abe, Hiroaki; Mita, Kazuei; Shimada, Toru

    2010-08-01

    On the W chromosome of the silkworm, Bombyx mori, we found a novel piggyBac-like DNA transposon that potentially encodes an intact transposase (610 amino acid residues), which is flanked by 16-bp perfect inverted terminal repeats and a duplicated TTAA target site. Interestingly, we also identified another intact copy of this transposon on an autosome (chromosome 21), which showed 99.6% identity in the DNA sequence of the transposase (99.3% amino acid identity). These features raised the possibility that this novel piggyBac-like DNA transposon, designated as yabusame, may retain transposition activity. Here we report the identification and characterization of yabusame transposons from the silkworm. We cloned the full length of the yabusame transposon on the W chromosome (yabusame-W) and its autosomal copy (yabusame-1). Southern blot analysis showed that there are interstrain polymorphisms in yabusame elements for their insertion sites and copy number. We also found strong evidence for the recent transposition of yabusame elements in the silkworm genome. Although our in vitro excision assays suggested that the transposition activity of yabusame-1 and yabusame-W has been lost almost entirely, our data will lead to a greater understanding of the characteristics of piggyBac superfamily elements.

  4. [Congenital retinal folds in different clinical cases].

    PubMed

    Munteanu, M

    2005-01-01

    We present 12 clinical cases of congenital retinal folds with different etiologies: posterior primitive vitreous persistency and hyperplasia (7 cases),retinocytoma (1 case). retinopathy of prematurity (1 case), astrocytoma of the retina (1 case), retinal vasculitis (1 case), Goldmann-Favre syndrome (1 case). Etiopathogenic and nosological aspects are discussed; the congenital retinal folds are interpreted as a symptom in a context of a congenital or acquired vitreo-retinal pathology.

  5. Two-stage double-level rotational osteotomy in the treatment of congenital radioulnar synostosis.

    PubMed

    El-Adl, Wael

    2007-12-01

    Congenital proximal radioulnar synostosis is a rare congenital anomaly that can be extremely disabling, especially when it occurs bilaterally or if there is severe hyperpronation. Currently, osteotomy to achieve a neutral or slightly pronated position is widely accepted for the management of patients who have severe pronation. The present study evaluates the result of two-stage double-level rotational osteotomy of both the radius and ulna in the treatment of severe congenital radioulnar synostosis. Nine children with severe congenital radioulnar synostosis underwent two-stage double-level rotational osteotomy of both the radius and ulna at Mansoura University Hospital. There were seven boys and two girls with a mean age of 5.6 years who were followed up for a mean of 26 months. The position of the forearm was improved from a mean pronation deformity of 76 degrees (60 degrees to 85 degrees) to 30 degrees of pronation in the affected dominant extremities and 20 degrees of supination in non-dominant extremities in all cases. Bony union was achieved by 5.9 weeks with no loss of correction. The advantages of this technique are that it is easy, safe, with absence of severe postoperative complications and requires a small surgical scar. A drawback of the technique is that the rotation correction depends only on a cast, so that a correction loss might occur if the plaster cast loosens.

  6. Genetics Home Reference: nonbullous congenital ichthyosiform erythroderma

    MedlinePlus

    ... Metabolic Diseases Foundation for Ichthyosis and Related Skin Types (FIRST): Congenital Ichthyosiform Erythroderma National Organization for Rare Disorders (NORD): Ichthyosis University of Kansas ...

  7. The changing epidemiology of congenital heart disease.

    PubMed

    van der Bom, Teun; Zomer, A Carla; Zwinderman, Aeilko H; Meijboom, Folkert J; Bouma, Berto J; Mulder, Barbara J M

    2011-01-01

    Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart failure and arrhythmias are the most prominent. Accordingly, these patients need frequent follow-up by physicians with specific knowledge in the field of congenital heart disease. However, planning of care for this population is difficult, because the number of patients currently living with congenital heart disease is difficult to measure. Birth prevalence estimates vary widely according to different studies, and survival rates have not been well recorded. Consequently, the prevalence of congenital heart disease is unclear, with estimates exceeding the number of patients currently seen in cardiology clinics. New developments continue to influence the size of the population of patients with congenital heart disease. Prenatal screening has led to increased rates of termination of pregnancy. Improved management of complications has changed the time and mode of death caused by congenital heart disease. Several genetic and environmental factors have been shown to be involved in the etiology of congenital heart disease, although this knowledge has not yet led to the implementation of preventative measures. In this Review, we give an overview of the etiology, birth prevalence, current prevalence, mortality, and complications of congenital heart disease.

  8. 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.

  9. Acquired and congenital coronary artery abnormalities.

    PubMed

    Young, Ming-Lon; McLeary, Michael; Chan, Kak-Chen

    2017-01-01

    Sudden unexpected cardiac deaths in approximately 20% of young athletes are due to acquired or congenital coronary artery abnormalities. Kawasaki disease is the leading cause for acquired coronary artery abnormalities, which can cause late coronary artery sequelae including aneurysms, stenosis, and thrombosis, leading to myocardial ischaemia and ventricular fibrillation. Patients with anomalous left coronary artery from the pulmonary artery can develop adequate collateral circulation from the right coronary artery in the newborn period, which remains asymptomatic only to manifest in adulthood with myocardial ischaemia, ventricular arrhythmias, and sudden death. Anomalous origin of coronary artery from the opposite sinus occurs in 0.7% of the young general population aged between 11 and 15 years. If the anomalous coronary artery courses between the pulmonary artery and the aorta, sudden cardiac death may occur during or shortly after vigorous exercise, especially in patients where the anomalous left coronary artery originates from the right sinus of Valsalva. Symptomatic patients with evidence of ischaemia should have surgical correction. No treatment is needed for asymptomatic patients with an anomalous right coronary artery from the left sinus of Valsalva. At present, there is no consensus regarding how to manage asymptomatic patients with anomalous left coronary artery from the right sinus of Valsalva and interarterial course. Myocardial bridging is commonly observed in cardiac catheterisation and it rarely causes exercise-induced coronary syndrome or cardiac death. In symptomatic patients, refractory or β-blocker treatment and surgical un-bridging may be considered.

  10. Genetics Home Reference: nonsyndromic congenital nail disorder 10

    MedlinePlus

    ... congenital nail disorder 10 nonsyndromic congenital nail disorder 10 Enable Javascript to view the expand/collapse boxes. ... All Close All Description Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and ...

  11. Transcription activator like effector (TALE)-directed piggyBac transposition in human cells.

    PubMed

    Owens, Jesse B; Mauro, Damiano; Stoytchev, Ilko; Bhakta, Mital S; Kim, Moon-Soo; Segal, David J; Moisyadi, Stefan

    2013-10-01

    Insertional therapies have shown great potential for combating genetic disease and safer methods would undoubtedly broaden the variety of possible illness that can be treated. A major challenge that remains is reducing the risk of insertional mutagenesis due to random insertion by both viral and non-viral vectors. Targetable nucleases are capable of inducing double-stranded breaks to enhance homologous recombination for the introduction of transgenes at specific sequences. However, off-target DNA cleavages at unknown sites can lead to mutations that are difficult to detect. Alternatively, the piggyBac transposase is able perform all of the steps required for integration; therefore, cells confirmed to contain a single copy of a targeted transposon, for which its location is known, are likely to be devoid of aberrant genomic modifications. We aimed to retarget transposon insertions by comparing a series of novel hyperactive piggyBac constructs tethered to a custom transcription activator like effector DNA-binding domain designed to bind the first intron of the human CCR5 gene. Multiple targeting strategies were evaluated using combinations of both plasmid-DNA and transposase-protein relocalization to the target sequence. We demonstrated user-defined directed transposition to the CCR5 genomic safe harbor and isolated single-copy clones harboring targeted integrations.

  12. Excision and transposition activity of Tc1/mariner superfamily transposons in sea urchin embryos.

    PubMed

    Sasakura, Yasunori; Yaguchi, Junko; Yaguchi, Shunsuke; Yajima, Mamiko

    2010-03-01

    Tc1/mariner superfamily transposons are used as transformation vectors in various model organisms. The utility of this transposon family is evidenced by the fact that Tc1/mariner transposons have loose host specificity. However, the activity of these transposons has been observed in only a few organisms, and a recent study in the ascidian Ciona intestinalis suggests that not all Tc1/ mariner transposons show loose host specificity. To understand host specificity, we used sea urchins, since they have a long history as materials of embryology and developmental biology. Transposon techniques have not been reported in this organism, despite the likelihood that these techniques would open up many experimental possibilities. Here we tested the activity of three Tc1/ mariner transposons (Minos, Sleeping Beauty, and Frog Prince) in the sea urchin Hemicentrotus pulcherrimus. Minos has both excision and transposition activity in H. pulcherrimus embryos, whereas no excision activity was detected for Sleeping Beauty or Frog Prince. This study suggests that Minos is active in a broad range of non-host organisms and can be used as a transformation tool in sea urchin embryos.

  13. Splenic artery transposition graft usage for the supply of the right hepatic artery: a case report.

    PubMed

    Odabasi, Mehmet; Eris, Cengiz; Yildiz, Mehmet Kamil; Abuoglu, Hasan; Akbulut, Sami; Saglam, Abdullah

    2013-01-01

    Hepatic artery aneurysms are responsible for 12% to 20% of all visceral arterial aneurysms. Because most patients are asymptomatic, this disease is generally diagnosed incidentally during radiologic examination. Aneurysm rupture develops in 14% to 80% of cases, depending on the aneurysmatic segment's diameter and location, as well as other etiologic factors. Mortality rates associated with rupture range between 20% and 70%. Thus, early diagnosis and timely initiation of medical interventions are critical to improve survival rates. Here, we present a male patient, age 69 years, with a hepatic artery aneurysm that was detected incidentally. The 3-cm aneurysm was detected on contrast-enhanced computed tomography and extended from the common hepatic artery to the hepatic trifurcation. A laparotomy was performed using a right subcostal incision. After dissection of the hepatoduodenal ligament, the common, right, and left hepatic arteries, as well as the gastroduodenal artery, were suspended separately. Then, the aneurysmatic hepatic artery segment was resected, and the gastroduodenal artery stump was ligated. An end-to-end anastomosis was formed between the left and common hepatic arteries, followed by an end-to-end anastomosis formed between the right hepatic artery and splenic artery using a splenic artery transposition graft. Postoperative follow-up examinations showed that both hepatic arterial circulations were good, and no splenic infraction had developed.

  14. Magnetic fabric transposition in folded granite sills in Variscan orogenic wedge

    NASA Astrophysics Data System (ADS)

    Závada, Prokop; Calassou, Thibaud; Schulmann, Karel; Hrouda, František; Štípská, Pavla; Hasalová, Pavlína; Míková, Jitka; Magna, Tomáš; Mixa, Petr

    2017-01-01

    New approach involving evaluation of anisotropy of magnetic susceptibility (AMS) data in stereoplots and Jelínek's Pj-T space, Vollmer's eigenvalue and microstructural analyses is proposed to discriminate between homogeneous and superposed deformation in granites. This method is used to decipher the internal AMS fabric and microstructural evolution of a folded array of granitic sills. The studied major sill shows a fabric and microstructural zonality marked by submagmatic and high-temperature Type I planar-linear fabric developed at sill margins, and the transpositional Type II subsolidus fabrics that formed at high to medium temperature deformation in the sill core. While Type I fabric is associated with dip slip magnetic lineations, Type II subsolidus fabrics are marked by subhorizontal magnetic lineations striking parallel to the long axis of the sill. The structural reconstruction of the fabrics in the granite and the host rocks as well as new U-Pb zircon ages suggest coeval emplacement of horizontal and vertical sills accounting for significant weakening of the host rock-magma multilayer. The model of folding of such multilayer and extrusion of residual magma parallel to axial planes is discussed with respect to structural record in other syn-contractional granite sill arrays forming sheeted plutons worldwide.

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

    NASA Astrophysics Data System (ADS)

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

    2014-02-01

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

  16. Transfer RNA Genes Are Genomic Targets for De Novo Transposition of the Yeast Retrotransposon Ty3

    PubMed Central

    Chalker, D. L.; Sandmeyer, S. B.

    1990-01-01

    Insertions of the yeast element Ty3 resulting from induced retrotransposition were characterized in order to identify the genomic targets of transposition. The DNA sequences of the junctions between Ty3 and flanking DNA were determined for two insertions of an unmarked element. Each insertion was at position -17 from the 5' end of a tRNA-coding sequence. Ninety-one independent insertions of a marked Ty3 element were studied by Southern blot analysis. Pairs of independent insertions into seven genomic loci accounted for 14 of these insertions. The DNA sequence flanking the insertion site was determined for at least one member of each pair of integrated elements. In each case, insertion was at position -16 or -17 relative to the 5' end of one of seven different tRNA genes. This proportion of genomic loci used twice for Ty3 integration is consistent with that predicted by a Poisson distribution for a number of genomic targets roughly equivalent to the estimated number of yeast tRNA genes. In addition, insertions upstream of the same tRNA gene in one case were at different positions, but in all cases were in the same orientation. Thus, genomic insertions of Ty3 in a particular orientation are apparently specified by the target, while the actual position of the insertion relative to the tRNA-coding sequence can vary slightly. PMID:1963869

  17. Enhanced CAR T-cell engineering using non-viral Sleeping Beauty transposition from minicircle vectors.

    PubMed

    Monjezi, R; Miskey, C; Gogishvili, T; Schleef, M; Schmeer, M; Einsele, H; Ivics, Z; Hudecek, M

    2017-01-01

    Immunotherapy with T cell modified with gamma-retroviral or lentiviral (LV) vectors to express a chimeric antigen receptor (CAR) has shown remarkable efficacy in clinical trials. However, the potential for insertional mutagenesis and genotoxicity of viral vectors is a safety concern, and their cost and regulatory demands a roadblock for rapid and broad clinical translation. Here, we demonstrate that CAR T cells can be engineered through non-viral Sleeping Beauty (SB) transposition of CAR genes from minimalistic DNA vectors called minicircles (MCs). We analyzed genomic distribution of SB and LV integrations and show that a significantly higher proportion of MC-derived CAR transposons compared with LV integrants had occurred outside of highly expressed and cancer-related genes into genomic safe harbor loci that are not expected to cause mutagenesis or genotoxicity. CD19-CAR T cells engineered with our enhanced SB approach conferred potent reactivity in vitro and eradicated lymphoma in a xenograft model in vivo. Intriguingly, electroporation of SB MCs is substantially more effective and less toxic compared with conventional plasmids, and enables cost-effective rapid preparation of therapeutic CAR T-cell doses. This approach sets a new standard in advanced cellular and gene therapy and will accelerate and increase the availability of CAR T-cell therapy to treat hematologic malignancies.

  18. [Interest in myocardial scintigraphy following the arterial switch procedure for transposition of the great vessels].

    PubMed

    Acar, P; Maunoury, C; Bonnet, D; Sébahoun, S; Bonhoeffer, P; Hallaj, I; Aggoun, Y; Iserin, F; Sidi, D; Kachaner, J

    2001-05-01

    Coronary artery obstruction is the main late complication of the so-called arterial switch operation designed to repair transpositions of the great arteries in newborn infants by switching the great vessels and transferring the coronary ostia onto the posterior vessel. Our aim was to study the links between myocardial perfusion and coronary artery anatomy after the arterial switch operation. Forty-five patients (5.863 years) underwent a 201Tl myocardial SPECT and a selective coronary artery angiography. The latter was normal in 20 children: 13 had also a normal myocardial scan but 7 had myocardial perfusion defects including 2 with angina who had a very low coronary reserve at positron emission tomography. Twenty-five patients had severe coronary artery lesions: 5 with a normal myocardial scan and 20 with perfusion defects. Twelve out of these 20 underwent surgical revascularization and the SPECT images went back to normal in all within 6 months after surgery. Specificity and sensitivity of myocardial SPECT in detecting coronary artery lesions were 78% and 69% whereas positive and negative predictive values were 74 and 73%. We conclude that myocardial SPECT imaging is not the right way to detect late post arterial switch coronary artery lesions. It is helpful in decision making as to submit these children to surgical revascularization and in assessing its postoperative effectiveness.

  19. Surgical management of subaortic stenosis in patients with single ventricle and transposition of the great vessels.

    PubMed

    Newfeld, E A; Nikaidoh, H

    1987-09-01

    Subaortic stenosis can develop in patients with single ventricle and transposition of the great vessels. Its presence increases the risk of septation or Fontan repair, and reports of surgical management have indicated high mortality. This report describes the results of an approach that includes direct resection of the stenosis via an aortotomy, and delay of the Fontan repair to a later date. Nine children with single ventricle underwent surgery for subaortic stenosis from 1968 to 1984. Three deaths occurred postoperatively from ventricular dysfunction in patients who underwent either conduit bypass (one patient) or repair via ventriculotomy (two patients). Of the six long-term survivors, one infant underwent ventriculotomy and subaortic resection, and the last five patients had subaortic resection via an aortotomy without any other simultaneous procedure. Avoidance of ventriculotomy and decreased cardiopulmonary bypass time lowers the risk of stenosis repair in the presence of a hypertrophied ventricle. Fontan repair after some regression of the ventricular hypertrophy is recommended, and has been accomplished in one patient to date. All patients repaired via aortotomy are alive and well 1 to 6 years postoperatively.

  20. [Echocardiographic diagnosis of d-transposition of the great vessels by deductive analysis].

    PubMed

    Lintermans, J P; van Dorp, W G

    1977-12-01

    The process of diagnosis by echocardiography of transposition of the great vessels is based fundamentally on the recognition of the position and relative orientation of the two ventricles and of the two vessels of the base of the heart. Traditional two-dimensional echocardiography allows us to establish the position of the left ventricle because of the atrio-ventricular (mitral) valve and its direct continuity with a sigmoid valve. If this continuity is absent, the mitral valve may be recognised because it closes after the tricuspid valve. It the tricuspid valve is on the right of and/or in front of the mitral valve, the aorta will in principle be found on the right of the pulmonary artery ("loop rule"). The orientation of the great vessels may then be determined. Two-dimensional systems are particularly useful in diagnosis of vascular disorders. If these are not available, traditional echocardiography may lead us to suspect this abnormality: 1. Provided that the orientation of the transducer is known at all times during the recording; 2. Provided the recording demonstrates simultaneously the two great vessels with their respective valves. Two other criteria are important if Van Praagh's rule or the "loop rule" is unhelpful: the diameter of the two vascular trunks, and identification of the valve by a study of the ejection times.

  1. Echocardiographic features of subpulmonic obstruction in dextro-transposition of the great vessels.

    PubMed

    Nanda, N C; Gramiak, R; Manning, J A; Lipchik, E O

    1975-03-01

    Eleven patients with dextro-transposition of the great vessels (TGV) and subpulmonic (left ventriclar outflow) obstruction documented by cardiac catheterization and angiography were studied by echocardiography. Echocardiographic features were which characterized the outflow obstruction included a) prolonged diastolic apposition of the mitral valve with the ventricular septum (10 patients), b) smaller width of the pulmonary artery as compared to the aortic root (10 cases), and c) narrowing of the subpulmonic area demonstrated by beam anglation studies through the planes of the mitral valve and the pulmonary artery (five cases). In addition, four patients showed abnormal systolic anterior movements (SAMs) of the anterior mitral leaflet resembling those observed in idiopathic hypertrophic subaortic stenosis. The SAM'S WERE LARGE IN THREE PATIENTS AND MAY HAVE ACCENTUATED THE OUTFLOW OBSTRUCTION. Additional evidence for this was provided by the movement of the pulmonary valve towards closure with the onset of the mitral SAM'S. These features were uncommon or absent in a comparison group of 17 patients with TGV and no outflow obstruction. Echocardiography appears to be useful in the diagnosis of subpulmonic muscular obstruction in TGV. Demonstration of definite mitral SAM'S IN SOME PATIENTS SUGGEST THE PRESSENCE OF ASSOCIATED FUNCTIONAL OBSTRUCTION OF THE TYPE SEEN IN IDIOPATHIC HYPERTROPHIC SUBAORTIC STENOSIS.

  2. Splenic Artery Transposition Graft Usage for the Supply of the Right Hepatic Artery: A Case Report

    PubMed Central

    Odabasi, Mehmet; Eris, Cengiz; Yildiz, Mehmet Kamil; Abuoglu, Hasan; Akbulut, Sami; Saglam, Abdullah

    2013-01-01

    Hepatic artery aneurysms are responsible for 12% to 20% of all visceral arterial aneurysms. Because most patients are asymptomatic, this disease is generally diagnosed incidentally during radiologic examination. Aneurysm rupture develops in 14% to 80% of cases, depending on the aneurysmatic segment's diameter and location, as well as other etiologic factors. Mortality rates associated with rupture range between 20% and 70%. Thus, early diagnosis and timely initiation of medical interventions are critical to improve survival rates. Here, we present a male patient, age 69 years, with a hepatic artery aneurysm that was detected incidentally. The 3-cm aneurysm was detected on contrast-enhanced computed tomography and extended from the common hepatic artery to the hepatic trifurcation. A laparotomy was performed using a right subcostal incision. After dissection of the hepatoduodenal ligament, the common, right, and left hepatic arteries, as well as the gastroduodenal artery, were suspended separately. Then, the aneurysmatic hepatic artery segment was resected, and the gastroduodenal artery stump was ligated. An end-to-end anastomosis was formed between the left and common hepatic arteries, followed by an end-to-end anastomosis formed between the right hepatic artery and splenic artery using a splenic artery transposition graft. Postoperative follow-up examinations showed that both hepatic arterial circulations were good, and no splenic infraction had developed. PMID:23971784

  3. 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.

  4. 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.

  5. Transposition of Mboumar-9: identification of a new naturally active mariner-family transposon.

    PubMed

    Muñoz-López, Martín; Siddique, Azeem; Bischerour, Julien; Lorite, Pedro; Chalmers, Ronald; Palomeque, Teresa

    2008-10-10

    Although mariner transposons are widespread in animal genomes, the vast majority harbor multiple inactivating mutations and only two naturally occurring elements are known to be active. Previously, we discovered a mariner-family transposon, Mboumar, in the satellite DNA of the ant Messor bouvieri. Several copies of the transposon contain a full-length open reading frame, including Mboumar-9, which has 64% nucleotide identity to Mos1 of Drosophila mauritiana. To determine whether Mboumar is currently active, we expressed and purified the Mboumar-9 transposase and demonstrate that it is able to catalyze the movement of a transposon from one plasmid to another in a genetic in vitro hop assay. The efficiency is comparable to that of the well-characterized mariner transposon Mos1. Transposon insertions were precise and were flanked by TA duplications, a hallmark of mariner transposition. Mboumar has been proposed to have a role in the evolution and maintenance of satellite DNA in M. bouvieri and its activity provides a means to examine the involvement of the transposon in the genome dynamics of this organism.

  6. 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

  7. Extensive libraries of gene truncation variants generated by in vitro transposition.

    PubMed

    Morelli, Aleardo; Cabezas, Yari; Mills, Lauren J; Seelig, Burckhard

    2017-01-26

    The detailed analysis of the impact of deletions on proteins or nucleic acids can reveal important functional regions and lead to variants with improved macromolecular properties. We present a method to generate large libraries of mutants with deletions of varying length that are randomly distributed throughout a given gene. This technique facilitates the identification of crucial sequence regions in nucleic acids or proteins. The approach utilizes in vitro transposition to generate 5' and 3' fragment sub-libraries of a given gene, which are then randomly recombined to yield a final library comprising both terminal and internal deletions. The method is easy to implement and can generate libraries in three to four days. We used this approach to produce a library of >9000 random deletion mutants of an artificial RNA ligase enzyme representing 32% of all possible deletions. The quality of the library was assessed by next-generation sequencing and detailed bioinformatics analysis. Finally, we subjected this library to in vitro selection and obtained fully functional variants with deletions of up to 18 amino acids of the parental enzyme that had been 95 amino acids in length.

  8. 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.

  9. 78 FR 75449 - Miscellaneous Corrections; Corrections

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-12-12

    ..., 50, 52, and 70 RIN 3150-AJ23 Miscellaneous Corrections; Corrections AGENCY: Nuclear Regulatory... final rule in the Federal Register on June 7, 2013, to make miscellaneous corrections to its regulations... miscellaneous corrections to its regulations in chapter I of Title 10 of the Code of Federal Regulations (10...

  10. [Congenital chloride diarrhea mimicking meconium ileus in newborn].

    PubMed

    Krzemień, Grażyna; Szmigielska, Agnieszka; Jankowska, Katarzyna; Roszkowska-Blaim, Maria

    2013-01-01

    Congenital chloride diarrhoea is a rare autosomal recessive disease and the diagnosis is frequently delayed. The disease is most common in Saudi Arabia and Kuwait 1:3200-13 000 births, Finland - 1:30 000-40 000, and in Poland - 1:200 000. Congenital chloride diarrhoea begins in fetal life. The main clinical sign is watery diarrhea that in utero leads to dilated bowel loops, polyhydramnios and often premature birth. Newborns have distended abdomens, absence of meconium, dilated bowel loops in ultrasonography and watery diarrhea which can sometimes be mistaken for urine. The absence of meconium and the distended abdomen suggest meconium ileus or Hirschsprung disease and can lead to unnecessary surgical intervention. The article is a report on a 3-months old boy with the history of dilated bowel loops in prenatal ultrasonograhy, low birth weight and abdominal distention. Because of the suspicion of mechanical bowel obstruction he had laparotomy on the second day of his life. Mechanical obstruction was excluded and enterostomy was performed. Hyponatremia, hypokaliemia and metabolic alkalosis were found in laboratory tests. The electrolyte disturbances were corrected and enterostomy was closed after six weeks. The final diagnosis of congenital chloride diarrhea was established two months later, when the patient was admitted to hospital again with severe watery diarrhea, metabolic alkalosis, hypochloraemia and hypokalemia. The stool chloride concentration was >90 mmol/L. Water and electrolyte deficits had been corrected. The patient was discharged home with supplementation of sodium, potassium and chloride. His follow-up was uneventful. He remains under the care of the pediatric clinic.

  11. Couple sex therapy for dysfunctions associated with congenital penile curvature.

    PubMed

    Zukerman, Z; Goldberg, I; Neri, A; Ovadia, J

    1988-05-01

    Three couples presented to our clinic with congenital ventral curvature of the penis resulting in unconsummated marriage in 2 cases and dyspareunia in 1. Intensive sex therapy was initiated, including use of vaginal dilators for vaginismus and dyspareunia, sex education, sensate focus exercises, and sexual techniques and methods to increase communication. Two highly motivated couples succeeded in having painless, normal, pleasurable sexual relations after short-term sex therapy. The problems of couple 3 were compounded by the wife's admitted lesbianism. However, this patient insisted on corrective surgery for her husband but she divorced him shortly thereafter. This nonsurgical approach for the treatment of sexual dysfunction secondary to penile curvature appears to be effective in selected cases. When corrective surgery is undertaken sex therapy is recommended to reinforce the operative results.

  12. [Successful gene therapy of mice with congenital erythropoietic porphyria].

    PubMed

    de Verneuil, Hubert; Robert-Richard, Elodie; Ged, Cécile; Mazurier, Frédéric; Richard, Emmanuel; Moreau-Gaudry, François

    2008-01-01

    Porphyrias are a group of disorders due to a genetic deficiency in one of the heme biosynthetic pathway enzymes. Congenital erythropoietic porphyria (CEP) is the most severe type characterized by a deficiency in uroporphyrinogen III synthase (UROS) activity. Bone marrow transplantation represents a curative treatment for patients, as long as human leucocyte antigen-compatible donor is available. We used a recently obtained murine model to check the feasibility of gene therapy in this disease. Lentivirus-mediated transfer of the human UROS cDNA into hematopoietic stem cells (HSCs) from Uros(mut 248) mice resulted in a complete and long-term enzymatic, metabolic and phenotypic correction of the disease, favored by a survival advantage of corrected red blood cells. These results demonstrate for the first time that the cure of this mouse model of CEP at moderate transduction level supports the proof of concept of a gene therapy in this disease by transplantation of genetically modified HSCs.

  13. Problems of the neonates with congenital heart disease requiring early interventions: a regional report

    PubMed Central

    Çelik, Muhittin; Aldudak, Bedri; Akar, Melek; Akdeniz, Osman; Tüzün, Heybet; Çelebi, Vefik

    2015-01-01

    Aim: In this study, it was aimed to determine the problems of the neonates who were diagnosed with congenital heart disease requiring early intervention in our hospital. Material and Methods: The files of the newborn babies with congenital heart disease requiring early intervention who were admitted to the neonatal intensive care unit of our hospital between January 2011 and January 2013 were evaluated retrospectively. In all cases, echocardiography and ‘’Score for Neonatal Acute Physiology-II” (SNAP-II) scoring were performed within the first day of admission. The data were interpreted using Number Cruncher Statistical System 2007 software. The statistical significance was set at p<0.05. Results: A total of 83 babies were included in the study. Forty six of the patients were male (55%), and 37 (45%) were female. Sixty eight percent of the patients were referred from the neighboring provinces and 32% were transferred from the centers within the city. The age range was between 0 and 28 (5.6±6.4 day) days. The SNAP-II scores upon admission ranged between 0 and 90 (mean: 20±20.3). None of the patients was diagnosed prenatally. The most common diagnoses included transposition of the great arteries (33.7%) and pulmonary atresia (19.3%). Nineteen (22%) patients were lost in the neonatal intensive care unit. There was a significant relationship between the mortality and the SNAP-II scores (p=0.0001) and use of vasopressors (p=0.004). The diagnosis, gender, use of alprostadil and age were not related to mortality. Three patients were discharged following planning of elective surgery and 60 patients were referred to a tertiary center by air ambulance. Conclusions: The results of our study indicated that prenatal diagnosis could not be made in neonates with congenital heart disease requiring intervention in our region. The mortality rates of these patients were related to the severity of the clinical status at presentation rather than to the age, gender and type of

  14. Congenital methemoglobinaemia due to Hb F-M-Fort Ripley in a preterm newborn.

    PubMed

    Ghotra, Satvinder; Jangaard, Krista; Pambrun, Chantale; Fernandez, Conrad Vincent

    2016-03-11

    Methemoglobinaemia is a rare cause of cyanosis in newborns. Congenital methemoglobinaemias due to M haemoglobin or deficiency of cytochrome b5 reductase are even rarer. We present a case of congenital methemoglobinaemia presenting at birth in a preterm infant. A baby boy born at 29 weeks and 3 days of gestation had persistent central cyanosis immediately after delivery, not attributable to a respiratory or cardiac pathology. Laboratory methemoglobin levels were not diagnostic. Cytochrome b5 reductase levels were normal and a newborn screen was unable to pick up any abnormal variants of fetal haemoglobin. Genetic testing showed a γ globin gene mutation resulting in the M haemoglobin, called Hb F-M-Fort Ripley. The baby had no apparent cyanosis at a corrected gestational age of 42 weeks. Although rare, congenital methaemoglobin aemia should be considered in the differential in a preterm with central cyanosis and investigated with genetic testing for γ globin chain mutations if other laboratory tests are non-conclusive.

  15. Sickle Cell Disease with Cyanotic Congenital Heart Disease: Long-Term Outcomes in 5 Children

    PubMed Central

    Adisa, Olufolake A.; Oster, Matthew E.; McConnell, Michael; Mahle, William T.

    2016-01-01

    Sickle cell disease is a risk factor for cerebrovascular accidents in the pediatric population. This risk is compounded by hypoxemia. Cyanotic congenital heart disease can expose patients to prolonged hypoxemia. To our knowledge, the long-term outcome of patients who have combined sickle cell and cyanotic congenital heart disease has not been reported. We retrospectively reviewed patient records at our institution and identified 5 patients (3 girls and 2 boys) who had both conditions. Their outcomes were uniformly poor: 4 died (age range, 12 mo–17 yr); 3 had documented cerebrovascular accidents; and 3 developed ventricular dysfunction. The surviving patient had developmental delays. On the basis of this series, we suggest mitigating hypoxemia, and thus the risk of stroke, in patients who have sickle cell disease and cyanotic congenital heart disease. Potential therapies include chronic blood transfusions, hydroxyurea, earlier surgical correction to reduce the duration of hypoxemia, and heart or bone marrow transplantation. PMID:28100970

  16. Free Fat Graft for Congenital Hand Differences

    PubMed Central

    Ishigaki, Daisuke; Satake, Hiroshi; Iba, Kousuke

    2012-01-01

    Background Free fat graft has been used for the treatment of congenital hand differences. However, there have been a few reports about the outcome of that treatment. In this study, the outcome of free fat grafts for congenital hand and foot differences was investigated. Methods Fourteen bones with longitudinal epiphyseal bracket, 3 wrists with Madelung deformity, and 5 cases of osseous syndactyly were treated with free fat graft with osteotomy, physiolysis, or separation of osseous syndactyly. Of the fourteen bones with longitudinal epiphyseal bracket, 9 were treated with open wedge osteotomy with free fat graft and 5 with physiolysis and free fat graft. The Madelung deformity was treated with physiolysis with free fat graft. For osseous syndactyly, syndactyly release with free fat graft was performed five times on four hands. Results In the fourteen cases with longitudinal epiphyseal bracket, lateral deviation improved in all except two cases after surgery. The average lateral deviation angle changed from 32.5 degrees before surgery to 15.2 degrees after surgery. The average improvement of the lateral deviation angle was 12.2 degrees in the osteotomy group and 20.6 degrees in the physiolysis group. The mean ratio of improvement of the lateral deviation angle to the lateral deviation angle before surgery was 39.4% in the osteotomy group and 51.2% in the physiolysis group. The Madelung deformity improved after surgery in two cases but there was no improvement in one case. For these conditions, the results were not good enough when surgery was done after age 13 or at age four for severely hypoplastic brachymesophalangy. Of the 5 cases of osseous syndactyly, reunion of the separated bones occurred in one case. The grafted free fat should be deep enough to cover the osteotomy site of the bones to prevent reunion of the separated bones. Conclusions Physiolysis and free fat graft performed during the growth period can correct the deviation due to longitudinal epiphyseal

  17. A Case Series: Congenital Hyperinsulinism

    PubMed Central

    Alaei, Mohammad Reza; Akbaroghli, Susan; Keramatipour, Mohammad; Alaei, Ali

    2016-01-01

    Introduction Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell’s function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause of the disease that account for approximately 40% of cases. Less frequently KCNJ11 gene mutations are responsible for the disease. Mutations in other genes such as HADH account for smaller fractions of cases. In nearly half of the cases the cause remains unknown. Case Presentation During the period between 2005 and 2010, a total of six patients with persistent hyperinsulinism were investigated at Mofid Children’s Hospital. In this study all of the patients had early onset hyperinsulinemia. Five patients had consanguineous parents. After failure of medical treatment in three patients, They were undergone pancreatectomy. Two diffuse types and one focal type had been recognized in pathological analysis of intra-operative frozen specimens of pancreas in these patients. Genetic analysis was performed using polymerase chain reaction followed by Sanger sequencing for ABCC8, KCNJ11and HADH genes. In five patients homozygous mutations in these genes were identified that indicated an autosomal recessive pattern of inheritance. In one patient a heterozygous mutation in ABCC8 was identified, indicating possible autosomal dominant inheritance of the disease. Conclusions Congenital hyperinsulinism can have different inheritance pattern. Autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. It appears that mutations in ABCC8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. PCR followed by Sanger sequencing proved to be an efficient method for mutation detection in three investigated genes

  18. Immunohistochemical study of congenital gingival granular cell tumor (congenital epulis).

    PubMed

    Takahashi, H; Fujita, S; Satoh, H; Okabe, H

    1990-11-01

    The congenital gingival granular cell tumor (CGGT) or congenital epulis is a rare lesion of unknown origin found only in newborn infants. The tumor consists mainly of large eosinophilic granular cells arranged in solid nests that are separated by thin fibrovascular areas. In addition, there are some spindle-shaped cells and medium-sized polygonal cells (so-called interstitial cells) among the neoplastic granular cells. Three CGGTs were investigated with a panel of poly- and monoclonal antibodies, using immunoperoxidase methods on formalin fixed paraffin embedded sections. Neoplastic granular cells of these three cases show cytoplasmic staining for neuron-specific enolase (NSE) and vimentin. However, all other reactions were negative. Our results suggest that the lesion may be derived from uncommitted nerve-related mesenchymal cells. On the other hand, interstitial cells show strong S-100 protein-, cytokeratin-, vimentin-, and NSE-immunostainings, and these cells are consistent with neuroendocrine nature. The presence of a biphasic cell population with granular cells and interstitial cells must be considered the main immunohistochemical feature.

  19. 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

  20. 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

  1. Purpura-associated congenital lymphedema.

    PubMed

    Berti, Samantha; Pieri, Alessandro; Lotti, Torello; Duranti, Alberto; Panelos, John; De Martino, Maurizio; Moretti, Silvia

    2009-01-01

    An 8-year-old girl referred to our Department for a two-month worsening of congenital primary lymphedema of the lower limb and for the appearance of several purpuric lesions on the right thigh and knee. We diagnosed a lichenoid pigmented purpura of Gougerot and Blum in a patient with Milroy disease, complicated by an insufficiency of anterior saphena. We treated the patient with topical steroids and compression stockings, until surgical intervention of phlebectomy. We report this case for the rarity of the disease, for the even more rare association with lichenoid pigmented purpura and for cutaneous immunopathological findings.

  2. Genetics Home Reference: congenital central hypoventilation syndrome

    MedlinePlus

    ... on PubMed Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B ... Abara SG, Zhou L, Berry-Kravis EM, Rand CM, Weese-Mayer DE. Later-onset congenital central hypoventilation ...

  3. Congenital psoriasis: case report and literature review.

    PubMed

    Lehman, Julia S; Rahil, Anudeep K

    2008-01-01

    While childhood psoriasis is fairly common, congenital psoriasis appears to be rare and has not been well characterized. We present a patient with histologically confirmed congenital psoriasis. By reviewing the literature, we aim to both define this disease and compare it to infantile and childhood psoriasis. Electronic searches found articles reporting patients with biopsy-proven congenital psoriasis. We recorded clinical features, such as family history, anatomic involvement, and disease severity. We compared these data with previous descriptions of infantile and childhood psoriasis. We included nine patients with congenital psoriasis in our analysis. No patient had a first-degree family history of psoriasis. While the face, scalp, chest, and trunk were frequently involved, the buttocks generally were spared. Several patients had persistent disease despite therapy. In this series, congenital psoriasis differed from infantile and childhood psoriasis in several respects. Specifically, congenital psoriasis was associated with a lower prevalence of relevant family history, which could increase over time, and a different pattern of anatomic involvement, which may reflect exposure to age-associated environmental factors. Although several patients with congenital psoriasis had severe disease, this likely represents publication bias. Additional reports of congenital psoriasis with extended follow-up are needed to better characterize this condition.

  4. Macular colobomas in Leber's congenital amaurosis.

    PubMed

    Margolis, S; Scher, B M; Carr, R E

    1977-01-01

    Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen. Electrodiagnostic evaluation of patients with congenitally poor visual ascuity and a central retinal defect differentiated a localized loss of funciton from a degeneration involving the entire retina.

  5. A case and review of congenital leukonychia.

    PubMed

    Pathipati, Akhilesh S; Ko, Justin M; Yost, John M

    2016-10-15

    Leukonychia refers to a white discoloration of the nails. Although several conditions may cause white nails, a rare, isolated, congenital form of the disease is hypothesized to stem from disordered keratinization of the nail plate. Herein, we report a case of a 41-year-old woman with congenital leukonychia and review prior cases.

  6. Hereditary congenital unilateral deafness: a new disorder?

    PubMed

    Dikkers, Frederik G; Verheij, Joke B G M; van Mechelen, Monique

    2005-04-01

    Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 live births. Evidently, congenital unilateral deafness must have a lower prevalence. The purpose of this research was to present a new disorder, hereditary congenital unilateral deafness. A pedigree is presented in which both male and female members display symptoms of congenital unilateral deafness. Two affected persons and a normal-hearing member of the family have vestibular abnormalities without dysequilibrium. The inheritance pattern of this new syndrome is not clear. We hypothesize that the disorder might be new. A family like this has never before been presented in the medical literature.

  7. [Anesthesia for non-cardiac surgery in children with congenital heart diseases].

    PubMed

    Frascaroli, G; Fucà, A; Buda, S; Gargiulo, G; Pace, C

    2003-05-01

    The incidence of congenital heart diseases accounts for 8-10 over 1000 liveborn. In Italy about 4000-4500 babies each year are born with congenital heart diseases; 50% of those babies (2000-2200) need cardiac surgery shortly after birth or within the first few months of life. Of the remaining 50%, half undergoes cardiac surgery later on in life and half does not necessitate any surgery; 30% of all cardiac operations consist of palliative procedures and the remaining 70% consist of one-stage corrective procedures. Improvements achieved both in surgical and anesthesiologic techniques, and in cardiopulmonary bypass and myocardial protection, have led to better results in pediatric cardiac surgery, with excellent long term survival rate, even for the more complex variants of congenital heart malformations. Therefore anesthesiologists are now more often required to deal with patients affected by congenital heart defects, for other than cardiac problems. Accurate investigation of patient's clinical history is strongly suggested. Moreover knowledge and familiarity with the modifications of the physiology, occurring in congenital heart disease patients, are mandatory for the choice of the more appropriate anesthesiologic strategy for each patient, in order to optimise the risk-benefits ratio and achieve a less traumatic impact on the cardio-circulatory and respiratory equilibrium. With the aim of achieving better results, interaction between anesthesiologist, cardiologist, pediatrician, surgeon and sometime neonatologist and cardiac surgeon, is strongly recommended in the evaluation of risks, and in decision making of strategies and timing of treatment.

  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. 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.

  11. 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.

  12. Computational modelling for congenital heart disease: how far are we from clinical translation?

    PubMed Central

    Biglino, Giovanni; Capelli, Claudio; Bruse, Jan; Bosi, Giorgia M; Taylor, Andrew M; Schievano, Silvia

    2017-01-01

    Computational models of congenital heart disease (CHD) have become increasingly sophisticated over the last 20 years. They can provide an insight into complex flow phenomena, allow for testing devices into patient-specific anatomies (pre-CHD or post-CHD repair) and generate predictive data. This has been applied to different CHD scenarios, including patients with single ventricle, tetralogy of Fallot, aortic coarctation and transposition of the great arteries. Patient-specific simulations have been shown to be informative for preprocedural planning in complex cases, allowing for virtual stent deployment. Novel techniques such as statistical shape modelling can further aid in the morphological assessment of CHD, risk stratification of patients and possible identification of new ‘shape biomarkers’. Cardiovascular statistical shape models can provide valuable insights into phenomena such as ventricular growth in tetralogy of Fallot, or morphological aortic arch differences in repaired coarctation. In a constant move towards more realistic simulations, models can also account for multiscale phenomena (eg, thrombus formation) and importantly include measures of uncertainty (ie, CIs around simulation results). While their potential to aid understanding of CHD, surgical/procedural decision-making and personalisation of treatments is undeniable, important elements are still lacking prior to clinical translation of computational models in the field of CHD, that is, large validation studies, cost-effectiveness evaluation and establishing possible improvements in patient outcomes. PMID:27798056

  13. Estimating the frequency of extreme rainfall using weather radar and stochastic storm transposition

    NASA Astrophysics Data System (ADS)

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

    2013-04-01

    Spatial and temporal variability in extreme rainfall, and its interactions with land cover and the drainage network, is an important driver of flood response. "Design storms," which are commonly used for flood risk assessment, however, are assumed to be uniform in space and either uniform or highly idealized in time. The impacts of these and other commonly-made assumptions are rarely considered, and their impacts on flood risk estimates are poorly understood. This study presents an alternate framework for rainfall frequency analysis that couples stochastic storm transposition (SST) with "storm catalogs" developed from a ten-year high-resolution (15-min, 1-km2) radar rainfall dataset for the region surrounding Charlotte, North Carolina, USA. The SST procedure involves spatial and temporal resampling from these storm catalogs to reconstruct the regional climatology of extreme rainfall. SST-based intensity-duration-frequency (IDF) estimates are driven by the spatial and temporal rainfall variability from weather radar observations, are tailored specifically to the chosen watershed, and do not require simplifying assumptions of storm structure. We are able to use the SST procedure to reproduce IDF estimates from conventional methods for four urban watersheds in Charlotte. We demonstrate that extreme rainfall can vary substantially in time and in space, with potentially important flood risk implications that cannot be assessed using conventional techniques. SST coupled with high-resolution radar rainfall fields represents a useful alternative to conventional design storms for flood risk assessment, the full advantages of which can be realized when the concept is extended to flood frequency analysis using a distributed hydrologic model.

  14. Peripheral Endothelial Function After Arterial Switch Operation for D-looped Transposition of the Great Arteries.

    PubMed

    Sun, Heather Y; Stauffer, Katie Jo; Nourse, Susan E; Vu, Chau; Selamet Tierney, Elif Seda

    2017-03-27

    Coronary artery re-implantation during arterial switch operation in patients with D-looped transposition of the great arteries (D-TGA) can alter coronary arterial flow and increase shear stress, leading to local endothelial dysfunction, although prior studies have conflicting results. Endothelial pulse amplitude testing can predict coronary endothelial dysfunction by peripheral arterial testing. This study tested if, compared to healthy controls, patients with D-TGA after arterial switch operation had peripheral endothelial dysfunction. Patient inclusion criteria were (1) D-TGA after neonatal arterial switch operation; (2) age 9-29 years; (3) absence of known cardiovascular risk factors such as hypertension, diabetes, hypercholesterolemia, vascular disease, recurrent vasovagal syncope, and coronary artery disease; and (4) ability to comply with overnight fasting. Exclusion criteria included (1) body mass index ≥85th percentile, (2) use of medications affecting vascular tone, or (3) acute illness. We assessed endothelial function by endothelial pulse amplitude testing and compared the results to our previously published data in healthy controls (n = 57). We tested 20 D-TGA patients (16.4 ± 4.8 years old) who have undergone arterial switch operation at a median age of 5 days (0-61 days). Endothelial pulse amplitude testing indices were similar between patients with D-TGA and controls (1.78 ± 0.61 vs. 1.73 ± 0.54, p = 0.73).In our study population of children and young adults, there was no evidence of peripheral endothelial dysfunction in patients with D-TGA who have undergone arterial switch operation. Our results support the theory that coronary arterial wall thickening and abnormal vasodilation reported in these patients is a localized phenomenon and not reflective of overall atherosclerotic burden.

  15. Blockade of Central GLP-1 Receptors Deteriorates the Improvement of Diabetes after Ileal Transposition

    PubMed Central

    Chen, Weijie; Xu, Qianqian; Xiao, Yiding; Zhou, Jiaolin; Zhang, Weimin; Lin, Guole; Gong, Fengying

    2016-01-01

    Background: The mechanism of improvement of type 2 diabetes mellitus induced by ileal transposition (IT) is undefined. Our aim was to investigate the possible role of central glucagon-like peptide 1 (GLP-1) after IT. Methods: Ninety male diabetic rats were randomly divided into the IT, sham IT (S-IT) and control group. The food intake, glucose metabolism and GLP-1 level were measured. Subsequently, we administered GLP-1 antagonist via lateral brain ventricle cannula to block central GLP-1 receptor, and verified whether the food intake, glucose metabolism changed. And the activated pro-opiomelanocortin (POMC) neurons in different groups were compared after sacrifice. Results: IT induced significant diabetic improvement with decreased maximum food intake and higher postprandial GLP-1 level. The GLP-1 level in cerebrospinal fluid increased in correlation with the plasma GLP-1 level. When the central GLP-1 receptor antagonist was given to the IT group rats, the improvement of the glucose level declined. The glucose level surged (169.9 ± 14.2) % during the oral glucose tolerance test, the range was larger than that before central blockade ((67.1 ± 14.2) %, P < 0.001). Moreover, the POMC neuron number in the arcuate nucleus of the hypothalamus were reduced (12.7 ± 6.1 at a magnification of 100×). The relative content level of POMC-derived peptides in the pituitary was lower (0.1 ± 0.05). Conclusions: The central GLP-1 might play an important role in the remission of diabetes after IT. POMC neurons in the hypothalamus may be activated by the enhanced level of GLP-1 after IT. PMID:27994501

  16. Long-term tinnitus suppression with linear octave frequency transposition hearing AIDS.

    PubMed

    Peltier, Elisabeth; Peltier, Cedric; Tahar, Stephanie; Alliot-Lugaz, Evelyne; Cazals, Yves

    2012-01-01

    Over the last three years of hearing aid dispensing, it was observed that among 74 subjects fitted with a linear octave frequency transposition (LOFT) hearing aid, 60 reported partial or complete tinnitus suppression during day and night, an effect still lasting after several months or years of daily use. We report in more details on 38 subjects from whom we obtained quantified measures of tinnitus suppression through visual analog scaling and several additional psychoacoustic and audiometric measures. The long-term suppression seems independent of subject age, and of duration and subjective localization of tinnitus. A small but significant correlation was found with audiogram losses but not with high frequency loss slope. Long-term tinnitus suppression was observed for different etiologies, but with a low success rate for sudden deafness. It should be noted that a majority of subjects (23) had a history of noise exposure. Tinnitus suppression started after a few days of LOFT hearing aid use and reached a maximum after a few weeks of daily use. For nine subjects different amounts of frequency shifting were tried and found more or less successful for long-term tinnitus suppression, no correlation was found with tinnitus pitch. When the use of the LOFT hearing aid was stopped tinnitus reappeared within a day, and after re-using the LOFT aid it disappeared again within a day. For about one third of the 38 subjects a classical amplification or a non linear frequency compression aid was also tried, and no such tinnitus suppression was observed. Besides improvements in audiometric sensitivity to high frequencies and in speech discrimination scores, LOFT can be considered as a remarkable opportunity to suppress tinnitus over a long time scale. From a pathophysiological viewpoint these observations seem to fit with a possible re-attribution of activity to previously deprived cerebral areas corresponding to high frequency coding.

  17. Midterm results after arterial switch operation for transposition of the great arteries: a single centre experience

    PubMed Central

    2012-01-01

    Background The arterial switch operation (ASO) has become the surgical approach of choice for d-transposition of the great arteries (d-TGA). There is, however an increased incidence of midterm and longterm adverse sequelae in some survivors. In order to evaluate operative risk and midterm outcome in this population, we reviewed patients who underwent ASO for TGA at our centre. Methods In this retrospective study 52 consecutive patients with TGA who underwent ASO between 04/1991 and 12/1999 were included. To analyze the predictors for mortality and adverse events (coronary stenoses, distortion of the pulmonary arteries, dilatation of the neoaortic root, and aortic regurgitation), a multivariate analysis was performed. The follow-up time was ranged from 1–10 years (mean 5 years, cumulative 260 patient-years). Results All over mortality rate was 15.4% and was only observed in the early postoperative period till 1994. The predictors for poor operative survival were low APGAR-score, older age at surgery, and necessity of associated surgical procedures. Late re-operations were necessary in 6 patients (13.6%) and included a pulmonary artery patch enlargement due to supravalvular stenosis (n = 3), coronary revascularisation due to coronary stenosis in a coronary anatomy type E, aortic valve replacement due to neoaortic valve regurgitation (n = 2), and patch-plasty of a pulmonary vein due to obstruction (n = 1). The dilatation of neoaortic root was not observed in the follow up. Conclusions ASO remains the procedure of choice for TGA with acceptable early and late outcome in terms of overall survival and freedom of reoperation. Although ASO is often complex and may be associated with morbidity, most patients survived without major complications even in a small centre. PMID:22958234

  18. 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

  19. Echocardiography of the intra-atrial baffle in dextro-transposition of the great vessels.

    PubMed

    Nanda, N D; Stewart, S; Gramiak, R; Manning, J A

    1975-06-01

    Twelve patients with dextro-transposition of the great vessels (age eight months to four years) were studied by echocardiography following Mustard's procedure. Nine of them had also been studied preoperatively. Postoperatively all patients demonstrated structural echoes in the atrial cavity behind the pulmonary root. In ten, the motion pattern generally resembled that of a stenotic atrioventricular valve iwth a sharp anterior movement followed by flattening in diastole and rapid posterior excursion in systole. The maximum amplitude of motion ranged from 4 to 9 mm (average 6.6 mm). In the remaining two cases, the anterior diastolic movement was attenuated. Similar moving, linear echoes with larger amplitudes of motion (10-14 mm) were observed behind the tricuspid valve in four patients while poorly moving, multiple or thick conglomerate echoes (2-11 mm wide) were detected in seven cases. Echocardiographic contrast studies performed by injecting indocyanine green via catheters placed on either side of the intra-atrial baffle identified it as the source of these echoes. Following operation, coarse diastolic undulations of the mitral valve (ten cases) and the tricuspid valve (nine cases) were noted. Also, fine flutter of both atrioventricular valves, not present before, appeared after operation in three patients. These findings may be related to the altered pathway of blood flow and turbulence resulting from the insertion of the baffle in the atria. Echocardiography appears useful in delineating the character and movement pattern of the intra-atrial baffle and this may have potential in evaluating its long-term functional status.

  20. 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