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Sample records for dominant congenital coronary

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

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    Freire, Grace; Miller, Michelle S

    2015-12-01

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

  2. Congenital giant aneurysm of the left coronary artery.

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    Berdajs, Denis; Ruchat, Patrick; Suva, Mario; Ferrari, Enrico; Ligang, Liu; von Segesser, Ludwig K

    2011-10-01

    We report an unusual case of congenital giant coronary aneurysm. A 23 year-old male with a history of acute myocardial infarction presented an abnormal shadow in the left cardiac border on routine X-ray. Electrocardiogram and physical examination were normal without any clinical signs of inflammation, but computed tomography (CT) scan and cardiac magnetic resonance imaging (MRI) revealed a giant (>50mm) coronary aneurysm. Coronary artery bypass grafting (CABG) with coronary artery aneurysm (CAA) resection resolved the CAA. Coronary artery aneurysms are entities of localised dilation and can be common events in chronic infectious disease as a result of the systemic inflammatory state; however, giant coronary aneurysms (measuring more than 50mm) are rare. This is especially true where the pathological aetiology was not clearly defined or was believed to be of congenital origin. To date only a few published case reports exist for this type of pathological entity. Copyright © 2011 Australasian Society of Cardiac and Thoracic Surgeons and the Cardiac Society of Australia and New Zealand. Published by Elsevier B.V. All rights reserved.

  3. [Pediatric case of congenital coronary artery fistula; surgical result and late changes in coronary artery aneurysm].

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    Sugawara, Masaaki; Oguma, Fumiaki; Hirahara, Hiroyuki

    2014-07-01

    Congenital coronary artery fistula is an uncommon heart anomaly involving the coronary arteries. We report here a case of a 4-year-old boy who had a coronary fistula from the right coronary artery to the right ventricle, with a coronary aneurysm. He was asymptomatic, but the calculated ratio of pulmonary blood flow to systemic blood flow was shown to be high [pulmonary flow (Qp)/systemic flow(Qs)=1.78]. The coronary angiography showed that the right coronary artery was dilated beginning at the ostium and had an aneurysm at the acute marginal portion. A large spherical aneurysm approximately 20 mm in diameter was found to have been connected with coronary fistula opening into the right ventricle. Surgical repair by closure of the fistula under direct vision, partial resection and suture closure of the aneurysm was performed. Plication of the proximal portion of the right coronary artery was not performed, and the diffusely dilated artery was left untouched. After this operation, he recovered well under anticoagulant treatment with warfarin and aspirin. Postoperative angiography was performed 17 months after the surgery to evaluate morphological changes in the coronary artery. The angiography confirmed the closure of the fistula and the regression of coronary artery dilatation.

  4. [Morphofunctional correlation in congenital anomalies of the coronary arteries. I. Coronary artery fistulas].

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    Rangel-Abundis, A; Muñoz-Castellanos, L; Marín, G; Chávez Pérez, E; Badui, E

    1994-01-01

    In order to explain the congenital coronary arteries malformations, the authors review the recent concepts on the coronary artery morphogenesis, based in the findings that in the human embryo, these arteries evolve from three sources: 1) endothelial aortic buds, 2) cavitary cellular groups from pericardial origin and with angiogenic character, which migrate to the cardiac zones where the coronary arteries will be distributed, and 3) the intramyocardial sinusoids. The anatomic and histologic cardiac alterations will be reflected in modifications of the coronary artery pattern. The coronary artery fistulae are formed by the persistence of the sponge structure of the myocardial wall, present in the early ontogenic steps of the cardiac development; such fistulae alter the normal functions of the coronary vascular tree and are capable to cause angina pectoris to the patient through diverse mechanisms: absence of capillarization, steal phenomenon aggravated by the altered coronary arteries properties when aneurysm or vascular channels are developed. The authors suggest a classification of the congenital coronary arteries anomalies: I. Anomalous origin in the sinus of Valsalva (anomalous and ectopic origin), II. Malformations of the coronary branches (in number, distribution and wall anomalies) and III. Anomalous connection of the coronary arteries: fistulae and persistence of the intramyocardial sinusoids isolated or communicated to left and right ventricles. The latter are frequently associated with aortic or pulmonary valve atresia. They do not cause myocardial ischemia and are formed secondary to the intracavitary elevated pressure which maintained the persistence, dilatation and communication of the ventricular chambers with such sinusoids and coronary arteries in the case of pulmonary valve atresia and with coronary veins in the case of aortic valve atresia.

  5. Congenital coronary artery anomalies: what about the young?

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    Phillip Moore

    2004-01-01

    @@ Drs. Rigatem, Rigatelli, and Trivellato present a complete retrospective review of the prevalence of congenital coronary abnormalities in a cohort of consecutive adult patients catheterized at their institution and compare them to younger patients < 65 years of age.They review in detail the clinical implications of these findings and then offer an algorithm for management. This article is particularly timely and significant as we move into an era of non-invasive coronary imaging with CT,MRI, and improved echo that will allow ns to make these diagnoses more often and with greater accuracy in younger patients. This will have a significant impact on the nanagement of symptomatic patients diagnosed at catheterization but also on asymptomatic patients diagnosed on screening evaluations.

  6. An unreported type of coronary artery naomaly in congenitally corrected transposition of great arteries

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    Kwak, Min Kyu; Jeong, Yeon Joo; Lee, Gee Won; Lee, Nam Kyung; Choi, Jung Hyun; Lee, Ji Won [Medical Research Institute, Pusan National University Hospital, Busan (Korea, Republic of)

    2016-07-15

    Coronary artery variations are associated anomalies in 45% of congenitally corrected transposition of the great arteries (ccTGA) cases, and it is important to detect any coronary artery anomalies before cardiac surgery. We report a case of a 51-year-old woman with ccTGA and an unreported type of coronary artery anomaly.

  7. Two congenital coronary abnormalities affecting heart function: anomalous origin of the left coronary artery from the pulmonary artery and congenital left main coronary artery atresia

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    Xiao Yanyan; Jin Mei; Han Ling; Ding Wenhong; Zheng Jianyong; Sun Chufan; Lyu Zhenyu

    2014-01-01

    Background The anomalous origin of the left coronary artery (LCA) from the pulmonary artery (ALCAPA) and congenital left main coronary artery atresia (CLMCA-A) are two kinds of very rare coronary heart diseases which affect heart function profoundly.This study aimed to retrospectively illustrate the clinical features and therapy experience of ALCAPA and CLMCA-A patients.Methods From April 1984 to July 2012,in Beijing Anzhen Hospital,23 patients were diagnosed with ALCAPA and 4 patients with CLMCA-A.We summarized the clinical data of the 27 cases and retrospectively analyzed the clinical manifestation,diagnosis,and treatments of these two kinds of congenital coronary abnormalities.Results The 23 patients (13 males and 10 females,aged ranging from 2.5 months to 65 years) identified with ALCAPA were classified into infantile type (age of onset younger than 12 months,16 cases) and adult type (age of onset older than 12 months,7 cases).Four patients were diagnosed with CLMCA-A (three males and one female,aged ranging from 3 months to 2 years).The main clinical manifestations of infantile-type ALCAPA and CLMCA-A include repeated respiratory tract infection,heart failure,dyspnea,feeding intolerance,diaphoresis,and failure to thrive.And these two congenital coronary abnormalities might be misdiagnosed as endocardial fibroelastosis,dilated cardiomyopathy,and acute myocardial infarction.As for the adult-type ALCAPA,cardiac murmurs and discomfort of the precordial area are the most common presentations and might be misdiagnosed as coronary heart disease,myocarditis,or patent ductus arteriosus.In ECG examination:Infantile-type ALCAPA and CLMCA-A showed abnormal Q waves with T wave inversion in leads I,avL,and V4-V6,especially in lead avL.However,ECG of adult-type ALCAPA lacked distinct features.In chest radiography:pulmonary congestion and cardiomegaly were the most common findings in infantile-type ALCAPA and CLMCA-A,while pulmonary artery segment dilation was more common in

  8. Impact of coronary dominance on in-hospital outcomes after percutaneous coronary intervention in patients with acute coronary syndrome.

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    Toshiki Kuno

    Full Text Available OBJECTIVE: This study evaluated the manner in which coronary dominance affects in-hospital outcomes of acute coronary syndrome (ACS patients undergoing percutaneous coronary intervention (PCI. BACKGROUND: Previous studies have shown that left dominant coronary anatomies are associated with worse prognoses in patients with coronary artery disease. METHODS: Data were analyzed from 4873 ACS patients undergoing PCI between September 2008 and April 2013 at 14 hospitals participating in the Japanese Cardiovascular Database Registry. The patients were grouped based on diagnostic coronary angiograms performed prior to PCI; those with right- or co-dominant anatomy (RD group and those with left-dominant anatomy (LD group. RESULTS: The average patient age was 67.6±11.8 years and both patient groups had similar ages, coronary risk factors, comorbidities, and prior histories. The numbers of patients presenting with symptoms of heart failure, cardiogenic shock, or cardiopulmonary arrest were significantly higher in the LD group than in the RD group (heart failure: 650 RD patients [14.7%] vs. 87 LD patients [18.8%], P = 0.025; cardiogenic shock: 322 RD patients [7.3%] vs. 48 LD patients [10.3%], P = 0.021; and cardiopulmonary arrest: 197 RD patients [4.5%] vs. 36 LD patients [7.8%], P = 0.003. In-hospital mortality was significantly higher among LD patients than among RD patients (182 RD patients [4.1%] vs. 36 LD patients [7.8%], P = 0.001. Multivariate logistic regression analysis revealed that LD anatomy was an independent predictor for in-hospital mortality (odds ratio, 1.75; 95% confidence interval, 1.06-2.89; P = 0.030. CONCLUSION: Among ACS patients who underwent PCI, LD patients had significantly worse in-hospital outcomes compared with RD patients, and LD anatomy was an independent predictor of in-hospital mortality.

  9. Congenital Left Circumflex Coronary Artery Atresia Detected by 64-Slice Computed Tomography: A Case Report

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    Chen-Yuan Liu

    2007-06-01

    Full Text Available A variety of coronary artery disorders, including intramyocardial coronary segments and coronary artery anomalies, can result in sudden cardiac death, especially in young adults. The detection of structural coronary artery abnormalities is important in the management of patients at risk of sudden cardiac death. Coronary artery anomalies occur in about 1% of the population. Congenital absence of left circumflex coronary artery (LCX is a very rare vascular anomaly, and few cases have been reported in the literature, with a frequency of only 0.003% in all patients who underwent coronary angiography. Although coronary catheterization is the gold standard for the evaluation of coronary arterial patency disease, noninvasive computed tomography (CT is considered the diagnostic method of choice for the detection and evaluation of coronary artery anomaly. Herein, we report the case of a 17-year-old girl who presented with exertional dyspnea and chest pain and who was studied at our emergency department with the final diagnosis of LCX atresia detected by 64-slice CT. She may be the first case of congenital LCX atresia proved by multislice CT.

  10. A gene for autosomal dominant congenital nystagmus localizes to 6p12

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    Kerrison, J.B.; Arnould, V.J.; Koenekoop, R.K. [Johns Hopkins Hospital, Baltimore, MD (United States)] [and others

    1996-05-01

    Congenital nystagmus is an idiopathic disorder characterized by bilateral ocular oscillations usually manifest during infancy. Vision is typically decreased due to slippage of images across the fovea. As such, visual acuity correlates with nystagmus intensity, which is the amplitude and frequency of eye movements at a given position of gaze. X-linked, autosomal dominant, and autosomal recessive pedigrees have been described, but no mapping studies have been published. We recently described a large pedigree with autosomal dominant congenital nystagmus. A genome-wide search resulted in six markers on 6p linked by two-point analysis at {theta} = 0 (D6S459, D6S452, D6S465, FTHP1, D6S257, D6S430). Haplotype analysis localizes the gene for autosomal dominant congenital motor mystagmus to an 18-cM region between D6S271 and D6S455. 16 refs., 1 fig., 1 tab.

  11. Use dependent limb dominence and somatosensory evoked potentials (SEPs in the congenitally blind

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    Dayananda Giriyappa

    2013-10-01

    Full Text Available Background and purpose: Vision has been considered as the dominant modality in the human multi-sensory perception of the surroundings. The congenitally blind individuals use cortical areas that are normally reserved for vision during Braille reading. Use-dependent reorganization and neural plasticity changes occur as a consequence of many events, including the normal development and maturation of the organism, the acquisition of new skills. The research was designed to study the effect of blindness on SEPs in the dominant hand (Braille reading hand compared to the non dominant (non Braille reading hand in the congenitally blind. Material and methods: SEPs were recorded in 15 Braille reading congenitally blind females and compared with 15 age matched normal sighted females following right and left index finger stimulation. Latency and amplitudes of SEP waveforms (N9, N13, and N20 were measured. Results: The SEP-N20 amplitude was significantly increased in the congenitally blind (p < 0.0001 for right index finger and p < 0.005 for left index finger. There is a very large effect of blindness (3.11 on right index finger. Conclusions: The congenitally blind individuals have larger N20 amplitude, which is suggestive of greater somatosensory cortical activity. Effect of blindness and Braille reading skills is greater on SEPs recorded from the dominant and preferred hand. A varied contribution from Basic mechanisms in plasticity like neurogenesis, activity-dependent synaptic and neuronal plasticity may be involved.

  12. [The congenital coronary artery fistula. Observations on seven cases (author's transl)].

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    Chioin, R; Stritoni, P; Fasoli, G; Schivazappa, L; Maddalena, F; Daliento, L; Boffa, G M

    1975-01-01

    The authors report seven cases of congenital coronary artery fistula observed in the Cardiology Department of Padua Medical School. The cardiopathy, the anatomo-histological characteristics, evolution and embriology are described. The anamnesic, clinical, electrocardiographic, X-Ray, phonocardiogram, haemodynamic, and contrastographic findings for each case are given. They are discussed and interpreted in the light of the pathophysiology of the disease.

  13. AN ANATOMICAL STUDY OF CORONARY ARTERY DOMINANCE IN HUMAN CADAVERIC HEARTS

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    Natasha

    2015-07-01

    Full Text Available CONTEXT: With ever increasing incidence of coronary heart disease, a thorough study of the coronary arteries is the need of time. AIM: The aim of the present study is to evaluate the coronary dominance pattern which will help the cardiac physicians and surgeons for better diagnosis and management of coronary arte ry disease. MATERIALS AND METHODS: The study undertaken in the Department of Anatomy, Assam Medical College included 75 perinatal and 15 adult cadaveric human hearts which were preserved in 10% formaldehyde solution after simple dissecting procedure and the dominance was noted. RESULTS: In the present study, out of total of 90 cases the right coronary dominance was found to be present in 58 cases (64.44%.This included 34(60.71% males and 24(70.59% females. Total cases of left coronary dominance were fo und to be 22(24.45%. Among these, 15(26.79% were males and 7(20.59% were females. Finally 10(11.11% co - dominant cases were found, of which 7 cases (12.50% were males and 3 cases (8.82% were females. CONCLUSION : Thus the study revealed that most of th e cases were having right coronary predominance. KEYWORDS : Coronary arteries, Dominance .

  14. Vital Importance of Delineation of Coronary Artery Anatomy in Atypical Congenital Giant Right Atrial Aneurysm

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    Malakan Rad

    2016-07-01

    Full Text Available Introduction Giant congenital right atrial aneurysm is a very rare congenital heart lesion, which may be asymptomatic or present a variety of symptoms, particularly supraventricular arrhythmias and intracardiac thrombosis formation. Case Presentation This is a report on a 3.5-month-old male infant with imperforated anus and an unusual-shaped congenital giant right atrial aneurysm with retro-ventricular extension. This unusual shape prevented appearance of cardiomegaly on the chest X-Ray. Surgical resection of the aneurysm was attempted. However, posterior descending coronary artery, which was embedded in the wall of the aneurysm, was irreversibly damaged during the operation. The patient died in the operation room. We concluded that pre-operative delineation of coronary arteries in cases with congenital giant right atrial aneurysm (CGRAA with extension to the posterior left ventricle is mandatory. Despite the current data that surgical excision of the aneurysm is the treatment of choice, our case required simple closure of the aneurysmal neck from inside the right atrium to be an easier and safer surgical approach for treatment of CGRAA with a tricky anatomy. Conclusions This case indicates that delineation of coronary artery anatomy in atypical congenital giant right atrial aneurysm is of vital importance. Closure of the aneurysmal sac, instead of aneurysmal resection, is a safer and more simple approach in atypical cases.

  15. Coronary artery problems and disease in adults with congenital heart disease: how to evaluate, how to prevent, how to treat.

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    Cataldo, S; Stuart, A G

    2014-10-01

    There are a wide variety of coronary artery anomalies and disease in adults with congenital heart disease (CHD). In fact, the increasing burden of acquired coronary artery disease (CAD) has to be considered in addition to congenital abnormalities of the coronary arteries, isolated or associated to other congenital diseases. This is largely a consequence of the increasing number of patients reaching older age. Due to complex underlying cardiac anatomy, previous surgery and comorbidities, treatment can be challenging. Individualized and multidisciplinary management involving congenital heart cardiologists, cardiac surgeons, coronary interventionists and imaging specialists is essential. This review gives an overview of coronary artery involvement in adults with CHD, summarizes the current literature and focuses on prevention, diagnosis and treatment. The potential role of cardiovascular risk factors for CAD is also discussed.

  16. CORONARY ARTERY DOMINANCE PATTERN IN EAST-GODAVARI DISTRICT: A CADAVERIC STUDY

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    Arindom

    2016-01-01

    Full Text Available With the advent of coronary angiography, coronary artery diseases can be well combated; but with time sedentary life style and stress as our constant partner have kept coronary artery disease as one of the major causes of death. Revascularization procedures demand a sound knowledge of the course of coronary arteries and their branches, both normal and their quite common variations. In this regard, posterior inter-ventricular artery (PIVA deserves a special importance; PIVA determines the coronary dominance depending on its parent artery. Dominance can be right, left or of balanced type. Balanced type means that PIVA is derived from both right & left coronary arteries. Circulation can occur when both the coronary arteries emit a branch in that area. These and other variations form a very important repertoire of information based on which coronary bypass surgery and angioplasty can be safely and effectively performed. The aim of this study therefore is to document the coronary dominance pattern in this East Godavari district of Andhra-Pradesh. 60 adult human hearts were collected from museum of Anatomy department during the tenure of 5 years (2009 to 2014 and were preserved in 10% formalin. The hearts were dissected carefully to observe the posterior inter-ventricular artery in the posterior inter-ventricular sulcus of each heart and dominance pattern was recorded. In our present study right dominance type was the commonest (46 out of 60 followed by left dominance (10 out of 60. Only 4 out of 60 were of the balanced type. Present study, though not of the only member of its kind will definitely add up to the already existing vast knowledge, based on which various diagnostic and therapeutic intervention of coronary artery diseases can be done effectively and safely

  17. A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract

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    WANG Jun; MA Xu; GU Feng; LIU Ning-pu; HAO Xiao-lin; WANG Kai-jie; WANG Ning-li; ZHU Si-quan

    2007-01-01

    Background Congenital cataract is a highly heterogeneous disorder at both the genetic and phenotypic levels. This study was conducted to identify disease locus for autosomal dominant congenital cataracts in a four generation Chinese family.Methods Family history and clinical data were recorded. All the members were genotyped with microsatellite markers which are close to the known genetic loci for autosomal congenital cataracts. Two-point Lod scores were obtained using the MLINK of the LINKAGE program package (ver 5.1). Candidate genes were amplified by polymerase chain reaction (PCR) and direct cycle sequencing.Results The maximum Lod score of Zmax=2.11 was obtained with three microsatellite markers D22S258, D22S315,and D22S1163 at recombination fraction θ= 0. Haplotype analysis showed that the disease gene was localized to a 18.5 Mbp region on chromosome 22 flanked by markers D22S1174 and D22S270, spanning the β-crystallin gene cluster. A c.752T-->C mutation in exon 6 of CRYBB1 gene, which resulted in a heterozygous S228P mutation in predicted protein,was found to cosegregate with cataract in the family.Conclusions This study identified a novel mutation in CRYBB1 gene in a Chinese family with autosomal dominant congenital cataract. These results provide strong evidence that CRYBB1 is a pathogenic gene for congenital cataract.

  18. Dutch survey of congenital coronary artery fistulas in adults: coronary artery-left ventricular multiple micro-fistulas multi-center observational survey in the Netherlands.

    NARCIS (Netherlands)

    Said, S.A.M.; Werf, T. van der

    2006-01-01

    BACKGROUND: Congenital coronary artery-left ventricular multiple micro-fistulas (CA-LVMMFs) in adults are rare anomalies. They may cause angina pectoris and myocardial infarction in association with normal coronary arteries. METHODS AND RESULTS: From the medical databases of a Dutch Survey of corona

  19. Coronary anatomy in children with bicuspid aortic valves and associated congenital heart disease.

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    Koenraadt, Wilke M C; Bartelings, Margot M; Bökenkamp, Regina; Gittenberger-de Groot, Adriana C; DeRuiter, Marco C; Schalij, Martin J; Jongbloed, Monique Rm

    2017-07-27

    In patients with bicuspid aortic valve (BAV), coronary anatomy is variable. High take-off coronary arteries have been described, but data are scarce, especially when associated with complex congenital heart disease (CHD). The purpose of this study was to describe coronary patterns in these patients. In 84 postmortem heart specimens with BAV and associated CHD, position and height of the coronary ostia were studied and related to BAV morphology. High take-off right (RCA) and left coronary arteries (LCA) were observed in 23% and 37% of hearts, respectively, most frequently in hearts with hypoplastic left ventricle (HLV) and outflow tract anomalies. In HLV, high take-off was observed in 18/40 (45%) more frequently of LCA (n=14) than RCA (n=6). In hearts with aortic hypoplasia, 8/13 (62%) had high take-off LCA and 6/13 (46%) high take-off RCA. High take-off was seen 19 times in 22 specimens with perimembranous ventricular septal defect (RCA 8, LCA 11). High take-off was associated with type 1A BAV (raphe between right and left coronary leaflets), more outspoken for the RCA. Separate ostia of left anterior descending coronary artery and left circumflex coronary artery were seen in four hearts (5%), not related to specific BAV morphology. High take-off coronary arteries, especially the LCA, occur more frequently in BAV with associated CHD than reported in normal hearts and isolated BAV. Outflow tract defects and HLV are associated with type 1A BAV and high take-off coronary arteries. Although it is unclear whether these findings in infants with detrimental outcome can be related to surviving adults, clinical awareness of variations in coronary anatomy is warranted. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  20. Coronary dominance and prognosis in patients undergoing coronary computed tomographic angiography: Results from the CONFIRM (COronary CTAngiography EvaluatioN for Clinical Outcomes: An InteRnational Multicenter) registry

    NARCIS (Netherlands)

    C. Gebhard (Catherine); T.A. Fuchs (Tobias A.); J. Stehli (Julia); H. Gransar (Heidi); D.S. Berman (Daniel S.); M.J. Budoff (Matthew); S. Achenbach (Stephan); M. Al-Mallah (Mouaz); D. Andreini (Daniele); F. Cademartiri (Filippo); T.Q. Callister (Tracy); H.-J. Chang (Hyuk-Jae); K. Chinnaiyan (Kavitha); B.J.W. Chow (Benjamin); R.C. Cury (Ricardo); A. Delago (Augustin); M. Gomez (Millie); M. Hadamitzky (Martin); J. Hausleiter (Jörg); N. Hindoyan (Niree); G. Feuchtner (Gudrun); Y.-J. Kim (Yong-Jin); J. Leipsic (Jonathon); F.Y. Lin (Fay); E. Maffei (Erica); G. Pontone (Gianluca); G.L. Raff (Gilbert); L.J. Shaw (Leslee); T.C. Villines (Todd); A.M. Dunning (Allison M.); J.K. Min (James); P.A. Kaufmann (Philipp)

    2015-01-01

    textabstractAims: Coronary computed tomographic angiography (CCTA) has become an important tool for non-invasive diagnosis of coronary artery disease (CAD). Coronary dominance can be assessed by CCTA; however, the predictive value of coronary dominance is controversially discussed. The aim of this s

  1. Coronary dominance and prognosis in patients undergoing coronary computed tomographic angiography: Results from the CONFIRM (COronary CTAngiography EvaluatioN for Clinical Outcomes: An InteRnational Multicenter) registry

    NARCIS (Netherlands)

    C. Gebhard (Catherine); T.A. Fuchs (Tobias A.); J. Stehli (Julia); H. Gransar (Heidi); D.S. Berman (Daniel S.); M.J. Budoff (Matthew); S. Achenbach (Stephan); M. Al-Mallah (Mouaz); D. Andreini (Daniele); F. Cademartiri (Filippo); T.Q. Callister (Tracy); H.-J. Chang (Hyuk-Jae); K. Chinnaiyan (Kavitha); B.J.W. Chow (Benjamin); R.C. Cury (Ricardo); A. Delago (Augustin); M. Gomez (Millie); M. Hadamitzky (Martin); J. Hausleiter (Jörg); N. Hindoyan (Niree); G. Feuchtner (Gudrun); Y.-J. Kim (Yong-Jin); J. Leipsic (Jonathon); F.Y. Lin (Fay); E. Maffei (Erica); G. Pontone (Gianluca); G.L. Raff (Gilbert); L.J. Shaw (Leslee); T.C. Villines (Todd); A.M. Dunning (Allison M.); J.K. Min (James); P.A. Kaufmann (Philipp)

    2015-01-01

    textabstractAims: Coronary computed tomographic angiography (CCTA) has become an important tool for non-invasive diagnosis of coronary artery disease (CAD). Coronary dominance can be assessed by CCTA; however, the predictive value of coronary dominance is controversially discussed. The aim of this s

  2. Radiologic evaluation of coronary artery disease in adults with congenital heart disease.

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    Valenzuela, David M; Ordovas, Karen G

    2016-01-01

    Improved surgical and medical therapy have prolonged survival in patients with congenital heart disease (CHD) such that general medical conditions like coronary artery disease (CAD) are now the main determinants of mortality. A summary of the association of CAD with CHD, as well as a discussion of the radiologic evaluation of the coronary arteries in adults with CHD is described herein. Cross sectional imaging to evaluate CAD in adults with CHD should follow the same appropriateness criteria as gender and aged matched patients without CHD. Coronary CT imaging may be particularly valuable in evaluating the coronary arteries in this patient population as invasive coronary angiography may prove challenging secondary to complicated or unconventional anatomy of the coronary arteries. Further, typical methods for evaluating CAD such as stress or echocardiography may be impractical in adults with CHD. Finally, delineating the anatomic relationship of the coronary arteries and their relationship with the sternum, chest wall, conduits, grafts, and valves is highly recommended in patients with CHD prior to reintervention to avoid iatrogenic complications.

  3. A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

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    Zhou, Yu; Zhai, Yaru; Huang, Lulin; Gong, Bo; Li, Jie; Hao, Fang; Wu, Zhengzheng

    2016-01-01

    Congenital cataract is the most common cause of the visual disability and blindness in childhood. This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC) in a Chinese family using next-generation sequencing technology. This family included eight unaffected and five affected individuals. After complete ophthalmic examinations, the blood samples of the proband and two available family members were collected. Then the whole exome sequencing was performed on the proband and Sanger sequencing was applied to validate the causal mutation in the two family members and control samples. After the whole exome sequencing data were filtered through a series of existing variation databases, a heterozygous mutation c.499Tcongenital cataract population and illustrated the important role of CRYBB2 in the genetics research of congenital cataract. PMID:28025620

  4. Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

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    Berry, Vanita; Gregory-Evans, Cheryl; Emmett, Warren; Waseem, Naushin; Raby, Jacob; Prescott, DeQuincy; Moore, Anthony T; Bhattacharya, Shomi S

    2013-12-01

    Congenital cataracts are an important cause of bilateral visual impairment in infants. Through genome-wide linkage analysis in a four-generation family of Irish descent, the disease-associated gene causing autosomal-dominant congenital nuclear cataract was mapped to chromosome 4p16.1. The maximum logarithm of odds (LOD) score was 2.62 at a recombination fraction θ=0, obtained for marker D4S432 physically close to the Wolfram gene (WFS1). By sequencing the coding regions and intron-exon boundaries of WFS1, we identified a DNA substitution (c.1385A-to-G) in exon 8, causing a missense mutation at codon 462 (E462G) of the Wolframin protein. This is the first report of a mutation in this gene causing an isolated nuclear congenital cataract. These findings suggest that the membrane trafficking protein Wolframin may be important for supporting the developing lens.

  5. Congenital coronary artery fistulas: dual-source CT findings from consecutive 6624 patients with suspected or confirmed coronary artery disease

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    YUN Hong; ZENG Meng-su; YANG Shan; JIN Hang; YANG Xue

    2011-01-01

    Background Coronary artery fistulas (CAFs) are rare congenital abnormality often unintentionally found in patients with coronary artery disease.Clinical diagnosis of CAFs is difficult due to symptomless or lack of specific symptoms.Dual-source computed tomography (DSCT) might be a useful diagnostic tool for CAFs.The study aimed to retrospectively summarize the imaging features of CAFs delineated at DSCT in 48 CAF patients detected from consecutive 6624 patients with suspected or confirmed coronary artery disease in our institution.Methods Forty-eight patients underwent DSCT angiography by using retrospective electrocardiographic (ECG) gating after infusion of 70 ml of intravenous contrast material during breath hold.Maximum intensity projection (MIP),curved planar reconstruction (CPR),and volume rendering technique (VR) were obtained.Anomalous termination of coronary artery in each subject was evaluated by two radiologists (with more than 10 years experience with cardiovascular imaging),and disagreement between diagnosis readers was settled by a consensus reading.Ten of 48 patients also underwent traditional coronary angiography (CAG) simultaneously.Results In each CAF case,DSCT angiography clearly demonstrated the origin,the termination,the size of abnormal vessel and its course in relation to surrounding great vessels.CAF arising from right coronary artery was the most common type,left circumflex was the least one involved among three coronaries,and pulmonary artery was the most common drainage site.Aneurismal fistulous tract,coronary atherosclerosis,myocardial bridging and anomalous origin of coronary artery were also detected in this group.The demonstration of drainage sites in CAG was consistent with DSCT angiography in 9 patients,and judgment on one anomalous connection in CAG was inconsistent with that in DSCT angiography.Conclusions DSCT angiography could provide accurate delineation of anomalous communications,size and numbers of fistulas in patients with

  6. Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner.

    Science.gov (United States)

    Banks, Eric A; Toloue, Masoud M; Shi, Qian; Zhou, Zifei Jade; Liu, Jialu; Nicholson, Bruce J; Jiang, Jean X

    2009-02-01

    The connexin (Cx) 50, E48K, mutation is associated with a human dominant congenital cataract; however, the underlying molecular mechanism has not been characterized. The glutamate (E) residue at position 48 is highly conserved across animal species and types of connexins. When expressed in paired Xenopus oocytes, human (h) and chicken (ch) Cx50 E48K mutants showed no electrical coupling. In addition, this mutation acts in a dominant negative manner when paired hetero-typically or hetero-merically with wild-type Cx50, but has no such effect on Cx46, the other lens fiber connexin. A similar loss-of-function and dominant negative effect was observed using dye transfer assays in the same system. By using two different dye transfer methods, with two different tracer dyes, we found chCx50 E48K expressed in chicken lens embryonic fibroblast cells by retroviral infection similarly failed to induce dye coupling, and prevented wild-type chCx50 from forming functional gap junctions. In contrast to its effect on gap junctions, the E48K mutation has no effect on hemichannel activity when assayed using electrical conductance in oocytes, and mechanically induced dye uptake in cells. Cx50 is functionally involved in cell differentiation and lens development, and the E48K mutant promotes primary lens cell differentiation indistinguishable from wild-type chCx50, despite its lack of junctional channel function. Together the data show that mutations affecting gap junctions but not hemichannel function of Cx50 can lead to dominant congenital cataracts in humans. This clearly supports the model of intercellular coupling of fiber cells creating a microcirculation of nutrients and metabolites required for lens transparency.

  7. Transcatheter Closure of Congenital Coronary Artery Fistulas with a Giant Coronary Artery Aneurysm in Children: Experiences from a Single Center

    Science.gov (United States)

    Li, Yi-Fan; Zhang, Zhi-Wei; Wang, Shu-Shui; Xie, Zhao-Feng; Zhang, Xu; Li, Yu-Fen

    2017-01-01

    Background: Transcatheter closure of congenital coronary artery fistulas (CCAFs) is an alternative therapy to surgery; however, data regarding transcatheter closure for CCAF with a giant coronary artery aneurysm (CAA) in pediatric patients are still limited due to the rarity of the disease. We aimed to evaluate the efficacy and safety of transcatheter closure for CCAF with a giant CAA in a pediatric population at a single center. Methods: Medical records of pediatric patients (aneurysm dilation after the second intervention. One patient experienced thrombus formation within the CAA after the procedure. Among those with closure at the entry point of the CAA, a mild-to-moderate residual shunt was detected in three patients. Conclusions: Transcatheter closure appears to be a safe and effective alternative therapy for CCAF with a giant CAA in the pediatric population. Closure at the entry point of the CAA, and closure at both the entry and exit points when feasible, may reduce the risk of postinterventional complications. PMID:28776543

  8. A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract.

    Science.gov (United States)

    Liu, Ling; Zhang, Qing; Zhou, Lu-xin; Tang, Zhao-hui

    2015-04-01

    This study was aimed to identify the mutation of the whole coding region of shock transcription factor 4 (HSF4) gene in a Chinese family with autosomal dominant congenital cataract (ADCC). All exons of HSF4 were amplified by PCR. Sequence analysis of PCR products was performed. Restriction fragment length polymorphism (RFLP) analysis was conducted to confirm the pathogenic mutation. The results showed that a C to T substitution occurred at nucleotide 331 in patients of this family, leading to the replacement of the amino acid arginine-111 with cysteine in exon 3. RFLP analysis showed that the amino acid change was co-segregated with all affected individuals. It was concluded that the new mutation of c.331C>T in HSF4 DNA may be responsible for the autosomal dominant congenital cataract in this family.

  9. Peratrial Device Closure of a Congenital Coronary Artery Fistula through a Right Parasternal Approach: Innovative Use of Available Technology.

    Science.gov (United States)

    Jia, Yanting; Hongxin, Li; Wenbin, Guo; Zhang, Haizhou; Zou, Chengwei

    2016-02-16

    Current treatments for congenital coronary artery fistulas (CAFs) include surgical obliteration and transcatheter occlusion. However, surgical techniques involve significant trauma. Transcatheter occlusion is performed under fluoroscopy and angiography, in which radiation injury is inevitable. We present a patient, with a CAF from the left coronary artery to the right atrium, who underwent peratrial device closure of the CAF with a right parasternal approach under transesophageal echocardiography guidance. Complete occlusion was achieved by a symmetric ventricular septal occluder. We suggest that peratrial device closure of a congenital coronary artery fistula through a right parasternal approach may be a safe and effective option.

  10. A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

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    Yu Zhou

    2016-01-01

    Full Text Available Congenital cataract is the most common cause of the visual disability and blindness in childhood. This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC in a Chinese family using next-generation sequencing technology. This family included eight unaffected and five affected individuals. After complete ophthalmic examinations, the blood samples of the proband and two available family members were collected. Then the whole exome sequencing was performed on the proband and Sanger sequencing was applied to validate the causal mutation in the two family members and control samples. After the whole exome sequencing data were filtered through a series of existing variation databases, a heterozygous mutation c.499Tcongenital cataract population and illustrated the important role of CRYBB2 in the genetics research of congenital cataract.

  11. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

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    Huang Lijia

    2012-09-01

    Full Text Available Abstract Background Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal dominant congenital nonprogressive spinocerebellar ataxia have been reported. Linkage to 3pter was demonstrated in one large Australian family and this locus was designated spinocerebellar ataxia type 29. The objective of this study is to describe an unreported Canadian family with autosomal dominant congenital nonprogressive spinocerebellar ataxia and to identify the underlying genetic causes in this family and the original Australian family. Methods and Results Exome sequencing was performed for the Australian family, resulting in the identification of a heterozygous mutation in the ITPR1 gene. For the Canadian family, genotyping with microsatellite markers and Sanger sequencing of ITPR1 gene were performed; a heterozygous missense mutation in ITPR1 was identified. Conclusions ITPR1 encodes inositol 1,4,5-trisphosphate receptor, type 1, a ligand-gated ion channel that mediates calcium release from the endoplasmic reticulum. Deletions of ITPR1 are known to cause spinocerebellar ataxia type 15, a distinct and very slowly progressive form of cerebellar ataxia with onset in adulthood. Our study demonstrates for the first time that, in addition to spinocerebellar ataxia type 15, alteration of ITPR1 function can cause a distinct congenital nonprogressive ataxia; highlighting important clinical heterogeneity associated with the ITPR1 gene and a significant role of the ITPR1-related pathway in the development and maintenance of the normal functions of the cerebellum.

  12. The registry of anomalous aortic origin of the coronary artery of the Congenital Heart Surgeons' Society.

    Science.gov (United States)

    Brothers, Julie A; Gaynor, J William; Jacobs, Jeffrey P; Caldarone, Christopher; Jegatheeswaran, Anusha; Jacobs, Marshall L

    2010-12-01

    The anomalous aortic origin of a coronary artery from the wrong sinus of Valsalva with interarterial, intramural, and/or intraconal course is a rare congenital anomaly that is associated with a high risk of sudden death in children. The Congenital Heart Surgeons' Society established the Registry of Anomalous Aortic Origin of the Coronary Artery to help determine the outcome of children and young adults managed with surgical intervention versus observation and to test the hypothesis that subsets of patients with anomalous aortic origin of a coronary artery can be identified in whom the risk of intervention is less than the risk of observation. All institutional members of the Congenital Heart Surgeons' Society were recruited for participation. The registry consists of a retrospective cohort of patients diagnosed between 1 January, 1998 and 20 January, 2009 and a prospective, population-based cohort of patients newly diagnosed from 21 January, 2009 onwards. Baseline demographics, diagnoses, and results of tests will be obtained through a review of the medical records. Annual follow-up data will be collected. Data will be analysed for different factors of risk at diagnosis, different strategies of treatment, and the impact of both on the outcomes of the patients. As of June 2010, 28 institutions had applied for approval from their institutional review board and 16 institutions had received approval from their institutional review board. Seventy-four patients have enrolled to date. We hope to use the established Pediatric Cardiomyopathy Registry as a guide to successful implementation, with a cooperative effort between institutions. The overall purpose of the Registry of Anomalous Aortic Origin of the Coronary Artery is to determine the outcome of surgical intervention versus observation in children and young adults with anomalous aortic origin of a coronary artery, and to describe the natural and "unnatural" history of these patients over the course of their lifetime

  13. Influence of anatomical dominance and hypertension on coronary conduit arterial and microcirculatory flow patterns: a multiscale modeling study.

    Science.gov (United States)

    Mynard, Jonathan P; Smolich, Joseph J

    2016-07-01

    Coronary hemodynamics are known to be affected by intravascular and extravascular factors that vary regionally and transmurally between the perfusion territories of left and right coronary arteries. However, despite clinical evidence that left coronary arterial dominance portends greater cardiovascular risk, relatively little is known about the effects of left or right dominance on regional conduit arterial and microcirculatory blood flow patterns, particularly in the presence of systemic or pulmonary hypertension. We addressed this issue using a multiscale numerical model of the human coronary circulation situated in a closed-loop cardiovascular model. The coronary model represented left or right dominant anatomies and accounted for transmural and regional differences in vascular properties and extravascular compression. Regional coronary flow dynamics of the two anatomical variants were compared under normotensive conditions, raised systemic or pulmonary pressures with maintained flow demand, and after accounting for adaptations known to occur in acute and chronic hypertensive states. Key findings were that 1) right coronary arterial flow patterns were strongly influenced by dominance and systemic/pulmonary hypertension; 2) dominance had minor effects on left coronary arterial and all microvascular flow patterns (aside from mean circumflex flow); 3) although systemic hypertension favorably increased perfusion pressure, this benefit varied regionally and transmurally and was offset by increased left ventricular and septal flow demands; and 4) pulmonary hypertension had a substantial negative effect on right ventricular and septal flows, which was exacerbated by greater metabolic demands. These findings highlight the importance of interactions between coronary arterial dominance and hypertension in modulating coronary hemodynamics.

  14. A novel GJA8 mutation (p.V44A causing autosomal dominant congenital cataract.

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    Yanan Zhu

    Full Text Available To examine the mechanism by which a novel connexin 50 (Cx50 mutation, Cx50 V44A, in a Chinese family causes suture-sparing autosomal dominant congenital nuclear cataracts.Family history and clinical data were recorded and direct gene sequencing was used to identify the disease-causing mutation. The Cx50 gene was cloned from a human lens cDNA library. Connexin protein distributions were assessed by fluorescence microscopy. Hemichannel functions were analyzed by dye uptake assay. Formation of functional channels was assessed by dye transfer experiments.Direct sequencing of the candidate GJA8 gene revealed a novel c.131T>C transition in exon 2, which cosegregated with the disease in the family and resulted in the substitution of a valine residue with alanine at codon 44 (p. V44A in the extracellular loop 1 of the Cx50 protein. Both Cx50 and Cx50V44A formed functional gap junctions, as shown by the neurobiotin transfer assay. However, unlike wild-type Cx50, Cx50V44A was unable to form open hemichannels in dye uptake experiments.This work identified a unique congenital cataract in the Chinese population, caused by the novel mutation Cx50V44A, and it showed that the V44A mutation specifically impairs the gating of the hemichannels but not the gap junction channels. The dysfunctional hemichannels resulted in the development of human congenital cataracts.

  15. Transcatheter embolization of a large aneurysm in a congenital coronary cameral fistula from the left coronary artery to the right ventricle.

    Science.gov (United States)

    Freund, Jan Erik; Yuko-Jowi, Christine; Freund, Matthias W

    2015-02-15

    A congenital coronary cameral fistula (CCCF) is characterized by left ventricular dysfunction, electrocardiographic changes due to a reduced left coronary blood flow and impaired physical activity. CCCF's with a giant aneurysm are very rarely seen. The presence of a giant aneurysm imposes even greater health risks. We report a case of a CCCF from the left coronary artery to the right ventricle with a large distal aneurysm in a 20-year-old woman that we closed percutaneously with coils for the closure of ventricular septal defects (VSD) and persistent ductus arteriosus (PDA).

  16. Coronary artery fistula

    Science.gov (United States)

    Congenital heart defect - coronary artery fistula; Birth defect heart - coronary artery fistula ... A coronary artery fistula is often congenital, meaning that it is present at birth. It generally occurs when one of the coronary arteries ...

  17. A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.

    Science.gov (United States)

    Chen, Qiang; Ma, Junjie; Yan, Ming; Mothobi, Maneo Emily; Liu, Yuanyuan; Zheng, Fang

    2009-07-10

    To identify the genetic defects associated with autosomal dominant congenital nuclear cataract in a Chinese family. Clinical data were collected, and the phenotypes of the affected members in this family were recorded by slit-lamp photography. Genomic DNA was isolated from peripheral blood. Mutations were screened in cataract-associated candidate genes through polymerase chain reaction (PCR) analyses and sequencing. Structural models of the wild-type and mutant alphaB-crystallin were generated and analyzed by SWISS-MODEL. Mutation screening identified only one heterozygous G-->A transition at nucleotide 32 in the first exon of alphaB-crystallin (CRYAB), resulting in an amino acid change from arginine to histidine at codon 11 (R11H). This mutation segregated in all available affected family members but was not observed in any of the unaffected persons of the family. The putative mutation disrupted a restriction site for the enzyme, Fnu4HI, in the affected family members. The disruption, however, was not found in any of the randomly selected ophthalmologically normal individuals or in 40 unrelated senile cataract patients. Computer-assisted prediction suggested that this mutation affected the biochemical properties as well as the structure of alphaB-crystallin. These results supported the idea that the novel R11H mutation was responsible for the autosomal dominant nuclear congenital cataract in this pedigree.

  18. A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.

    Science.gov (United States)

    Yao, Ke; Jin, Chongfei; Zhu, Ning; Wang, Wei; Wu, Renyi; Jiang, Jin; Shentu, Xingchao

    2008-07-09

    To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family. Family history and phenotypic data were recorded, and the phenotypes were documented by slit lamp photography. The genomic DNA was extracted from peripheral blood leukocytes. All the exons and flanking intronic sequences of CRYGC and CRYGD were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. Structural models of the wild type and mutant gammaC-crystallin were generated and analyzed by SWISS-MODEL. Sequencing of the coding regions of CRYGC and CRYGD showed the presence of a heterozygous C>A transversion at c.327 of the coding sequence in exon 3 of CRYGC (c.327C>A), which results in the substitution of a wild type cysteine to a nonsense codon (C109X). One and a half Greek key motifs at the COOH-terminus were found to be absent in the structural model of the mutant truncated gammaC-crystallin. A novel nonsense mutation in CRYGC was detected in a Chinese family with consistent autosomal dominant congenital nuclear cataract, providing clear evidence of a relationship between the genotype and the corresponding cataract phenotype.

  19. Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

    Science.gov (United States)

    Nichols, Lorenzo L; Alur, Ramakrishna P; Boobalan, Elangovan; Sergeev, Yuri V; Caruso, Rafael C; Stone, Edwin M; Swaroop, Anand; Johnson, Mary A; Brooks, Brian P

    2010-06-01

    Leber congenital amaurosis (LCA) is a congenital retinal dystrophy characterized by severe visual loss in infancy and nystagmus. Although most often inherited in an autosomal recessive fashion, rare individuals with mutations in the cone-rod homeobox gene, CRX, have dominant disease. CRX is critical for photoreceptor development and acts synergistically with the leucine-zipper transcription factor, NRL. We report on the phenotype of two individuals with LCA due to novel, de novo CRX mutations, c.G264T(p.K74N) and c.413delT(p.I138fs48), that reduce transactivation in vitro to 10% and 30% of control values, respectively. Whereas the c.413delT(p.I138fs48) mutant allows co-expressed NRL to transactivate independently at its normal, baseline level, the c.G264T(p.K74N) mutant reduces co-expressed NRL transactivation and reduces steady state levels of both proteins. Although both mutant proteins predominantly localize normally to the nucleus, they also both show variable cytoplasmic localization. These observations suggest that some CRX-mediated LCA may result from effects beyond haploinsufficiency, such as the mutant protein interefering with other transcription factors' function. Such patients would therefore not likely benefit from a simple, gene-replacement strategy for their disease.

  20. Absence of left circumflex with superdominant right coronary artery

    Science.gov (United States)

    Quijada-Fumero, Alejandro; Pimienta-González, Raquel; Rodriguez-Esteban, Marcos

    2014-01-01

    Congenital anomalies of coronary arteries are a group of diseases that are infrequently found. Their prevalence has been reported from 0.6% to 1.3%. Most clinical manifestations are benign and asymptomatic. Congenital absence of the left circumflex artery is a very rare congenital anomaly of the coronary circulation, and only a few cases have been reported in the literature. We report a case of a 51-year-old man who underwent a cardiac catheterisation. Coronary angiography showed a left anterior descending coronary artery with no circumflex and a dominant right coronary artery. PMID:25535241

  1. DOMINANCE OF CORONARY ARTERY DISEASE AMONG PATIENTS WITH ANEURYSM OF ABDOMINAL AORTA

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    Maja Zdravkovic

    2007-12-01

    Full Text Available Persons with aneurysm of the abdominal aorta have high prevalence of risk factors of cardiovascular disease. It cannot be stated with certainty whether these persons die in a large number due to the existence of risk factors or the genesis and complications of aneurysm itself. In patients with aneurysm of the abdominal aorta, there is a high correlation with the coronary artery disease; therefore, the aim of the study was to prove whether or not this is the case. The patients in preparation for the resection of the abdominal aorta aneurysm at the Institute of Cardiovascular Disease underwent the examination. The study included 377 examinees, of whom 341 males and 36 females, aged 45 to 83 years, during the three-year interval (from 2004 to 2006. The aim of the study was to determine the dominance of the coronary artery disease among the patients with aneurysm of the abdominal aorta. In the process of analyzing the data obtained from patients and medical evidence, it was found out that a large number of the abdominal aortic aneurysm patients were at the same time the coronary artery disease patients (55,2%; Hi=15,04; p80 kg was larger, as well as the percentage of patients with hypertension (89% and increased levels of cholesterol and triglycerides (67%. There was a great number of those with the inherited factor (40%. It has been proven that the risk factors for the development of coronary artery disease are in direct association with the risk factors for the abdominal aortic aneurysm. Also, there is a great predominance of the coronary artery disease among the patients with aneurysm of the abdominal aorta. The coronary artery disease is one of the main risk factors. If we managed to prevent the appearance of this disease or achieve the timely diagnosing of it and eventual curing, we would be able to decrease the development of the abdominal aortic aneurysm well as the consequences and further complications.

  2. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

    NARCIS (Netherlands)

    Baker, NL; Morgelin, M; Peat, R; Goemans, N; North, KN; Bateman, JF; Lamande, [No Value

    2005-01-01

    Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). UCMD, a severe disorder characterized by congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility, has been considered

  3. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

    NARCIS (Netherlands)

    Baker, NL; Morgelin, M; Peat, R; Goemans, N; North, KN; Bateman, JF; Lamande, [No Value

    2005-01-01

    Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). UCMD, a severe disorder characterized by congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility, has been considered

  4. Image Quality of Coronary Computed Tomography Angiography with 320-Row Area Detector Computed Tomography in Children with Congenital Heart Disease.

    Science.gov (United States)

    Tada, Akihiro; Sato, Shuhei; Kanie, Yuichiro; Tanaka, Takashi; Inai, Ryota; Akagi, Noriaki; Morimitsu, Yusuke; Kanazawa, Susumu

    2016-03-01

    The objective of this study was to assess factors affecting image quality of 320-row computed tomography angiography (CTA) of coronary arteries in children with congenital heart disease (CHD). We retrospectively reviewed 28 children up to 3 years of age with CHD who underwent prospective electrocardiography (ECG)-gated 320-row CTA with iterative reconstruction. We assessed image quality of proximal coronary artery segments using a five-point scale. Age, body weight, average heart rate, and heart rate variability were recorded and compared between two groups: patients with good diagnostic image quality in all four coronary artery segments and patients with at least one coronary artery segment with nondiagnostic image quality. Altogether, 96 of 112 segments (85.7 %) had diagnostic-quality images. Patients with nondiagnostic segments were significantly younger (10.0 ± 11.6 months) and had lower body weight (5.9 ± 2.9 kg) (each p heart rate and heart rate variability between the two imaging groups were not significant. Receiver operating characteristic analyses for predicting patients with nondiagnostic image quality revealed an optimal body weight cutoff of ≤5.6 kg and an optimal age cutoff of ≤12.5 months. Prospective ECG-gated 320-row CTA with iterative reconstruction provided feasible image quality of coronary arteries in children with CHD. Younger age and lower body weight were factors that led to poorer image quality of coronary arteries.

  5. Vertebral and spinal dysplasia: A novel dominantly inherited congenital defect in Holstein cattle.

    Science.gov (United States)

    Kromik, A; Kusenda, M; Tipold, A; Stein, V M; Rehage, J; Weikard, R; Kühn, C

    2015-06-01

    Monitoring and surveillance strategies are imperative for managing genetic defects in livestock populations in order to avoid detrimental effects on animal welfare and productivity. Recently, a number of previously unknown defects have been described in cattle, fostered by the huge progress in genome analysis and genomic selection. In response to reports about a potentially new defect in Holstein cattle, case-control studies were carried out to confirm a genetic background of the defect and to evaluate its phenotypic relevance. Eighty-five potentially affected offspring of a suspected carrier sire for the defect and 41 matched control calves were subjected to clinical and epidemiological monitoring on 39 farms. Forty-one animals, all offspring of the suspected carrier sire, showed pathognomonic tail malformations providing highly significant evidence for a congenital inherited defect, which was subsequently termed vertebral and spinal dysplasia (VSD). The defect is characterised by vertebral (specifically tail) deformities and neurological dysfunctions with gait abnormalities of the hind limbs. The deformities and neurological dysfunctions varied from very mild (only tail deformities) to severe (paraparesis). Detailed epidemiological monitoring provided no indication of environmental factors affecting VSD. The malformations and dysfunctions associated with VSD, as well as its mode of inheritance and the genotyping of the suspected carrier sire, indicated that VSD is a defect previously not described in cattle. VSD is inherited in a dominant mode, but shows incomplete penetrance of the phenotype, which impedes unequivocal identification of VSD carriers. A direct diagnostic genetic test for VSD is available. Copyright © 2015 Elsevier Ltd. All rights reserved.

  6. [Morphofunctional correlation in congenital anomalies of the coronary arteries. II. The ectopic origin of the coronary arteries].

    Science.gov (United States)

    Rangel-Abundis, A; Muñoz-Castellanos, L; Chávez-Pérez, E; Sánchez-Moreira, L M; Marín, G; Badui, E; Solorio, S

    1994-01-01

    The authors describe the morphogenesis and functional alterations of the coronary arterial net in the ectopic coronary arteries: a) with origin in the aorta or its branches and b) with origin in the pulmonary artery. The coronary arteries are developed from: 1) endothelial sprouts localized in the great arteries walls at the level of the sigmoidal values, 2) right and left subepicardial vascular network and 3) the intramyocardial sinusoids. Most of the ectopic coronary arteries result from alterations in the connection between these three embryonic elements. The deviation of one of the subepicardial vascular network in a wrong way (in direction of pulmonary artery or the opposite Valsalva sinus) will stimulate the development of endothelial sprouts which will connect such network originating abnormal connections and anomalous origin of the coronary arteries. The origin of both coronary arteries from the pulmonary artery is in compatible with life. Myocardial ischemia is absent in patients with type I (infant) or type II (adult) anomalous origin of one coronary artery from the pulmonary artery, only in the transitional phase between both types (I and II) there is myocardial ischemia previous to the formation of the collateral coronary circulation. The ectopic origin of the coronary artery from the aortic Valsalva sinus have very little hemodynamic repercussion in the patient. Although there are cases with postexercise sudden dead. These anomalies associated to atherosclerotic coronary stenosis have an impact on the evolution and prognosis of ischemic heart disease.

  7. A successful patch angioplasty with auto-pulmonary wall for congenital coronary left main trunk occlusion in a young child.

    Science.gov (United States)

    Terada, Takafumi; Sakurai, Hajime; Nonaka, Toshimichi; Sakurai, Takahisa; Sugiura, Junya; Taneichi, Tetsuyoshi; Ohtsuka, Ryohei

    2015-12-01

    Congenital occlusion of the left main coronary trunk is a life-threatening abnormality, and its optimal management remains controversial. This report describes a case of successful patch angioplasty with auto-pulmonary artery for a 12-year-old boy with congenital left main trunk occlusion. We divided the main pulmonary artery, harvested a pulmonary artery wall strip, and performed patch angioplasty of the occluded left main trunk ostium. We were able to clearly expose the left main trunk behind the pulmonary artery because the obstruction was divided for the patch material. The postoperative course was uneventful, and coronary angiography at 4 months after surgery showed excellent patency of the left main trunk. The auto-pulmonary arterial wall was easy to handle during angioplasty, and its favorable durability has been established both in the Ross procedures and in an arterial switch procedure. Therefore, we conclude that patch angioplasty using a piece of the pulmonary arterial wall represents a good alternative to conventional coronary artery bypass grafting.

  8. Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance.

    Science.gov (United States)

    Quercia, Nada L; Teebi, Ahmad S

    2002-01-01

    The association of craniosynostosis with ectopia lentis is extremely rare. This was recently reported in monozygotic twin sisters, supporting a genetic etiology for this syndromic association. We report on female first cousins once removed who were born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and was later found to have ectopia lentis and severe myopia. The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. The inheritance is likely autosomal dominant with variable expression and incomplete penetrance and further defines this syndrome to include congenital heart defects. These findings will have important implications for genetic counseling.

  9. Dominância coronariana na síndrome da hipoplasia do coração esquerdo Coronary dominance patterns in hypoplastic left heart syndrome

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    Decio Cavalet Soares Abuchaim

    2011-12-01

    Full Text Available INTRODUÇÃO: Apesar de a síndrome do coração esquerdo hipoplásico (SCEH ser extensamente estudada, esta doença ainda apresenta mortalidade elevada se comparada a outras doenças tratadas como fisiologia univentricular. Assim, diferenças morfológicas entre fenótipos dentro do espectro da SCEH podem ser fatores de risco e sua identificação pode auxiliar na escolha terapêutica entre os subgrupos anatômicos. OBJETIVOS: Determinar a forma mais frequente de dominância coronariana em corações com SCEH nos subgrupos com atresia (AM e estenose mitral (EM. MÉTODOS: Análise da anatomia coronariana de acordo com a distribuição dos ramos epicárdicos e o padrão de dominância, classificadas em direita, esquerda ou balanceada. O grupo controle foi composto por nove peças de corações morfologicamente normais. O grupo SCEH constituiu-se de nove peças com AM e 24 peças com EM. Para análise estatística foi utilizado o teste do qui-quadrado. RESULTADOS: Houve diferença significativa entre os dois grupos em relação à dominância coronariana (x²= 9,298; P=0,01. A dominância esquerda esteve presente em 75% dos casos de EM, e a balanceada só foi observada na EM. No grupo controle, observou-se dominância direita em todos os casos (PINTRODUCTION: Although hypoplastic left heart syndrome (HLHS be extensively studied, this disease still has a high mortality rate compared to other diseases treated as univentricular physiology. In this way, morphological differences between phenotypes within the spectrum of HLHS may be risk factors and their identification can assist in choosing treatment between subgroups. OBJECTIVE: To identify the most prevalent form of coronary artery dominance in hearts with HLHS groups with mitral atresia (MA and mitral stenosis (MS. METHODS: Analysis of coronary anatomy according to the distribution of epicardial branches and the pattern of dominance, classified as right, left or balanced. The control group was

  10. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy

    NARCIS (Netherlands)

    Ostergaard, P.; Simpson, M.A.; Mendola, A.; Vasudevan, P.; Connell, F.C.; Impel, A. van; Moore, A.T.; Loeys, B.L.; Ghalamkarpour, A.; Onoufriadis, A.; Martinez-Corral, I.; Devery, S.; Leroy, J.G.; Laer, L. van; Singer, A.; Bialer, M.G.; McEntagart, M.; Quarrell, O.; Brice, G.; Trembath, R.C.; Schulte-Merker, S.; Makinen, T.; Vikkula, M.; Mortimer, P.S.; Mansour, S.; Jeffery, S.

    2012-01-01

    We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of microcephaly and lymphedema from a mic

  11. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy

    NARCIS (Netherlands)

    Ostergaard, P.; Simpson, M.A.; Mendola, A.; Vasudevan, P.; Connell, F.C.; van Impel, A.; Moore, A.T.; Loeys, B.L.; Ghalamkarpour, A.; Onoufriadis, A.; Martinez-Corral, I.; Devery, S.; Leroy, J.G.; van Laer, L.; Singer, A.; Bialer, M.G.; McEntagart, M.; Quarrell, O.; Brice, G.; Trembath, R.C.; Schulte-Merker, S.; Makinen, T.; Vikkula, M.; Mortimer, P.S.; Mansour, S.; Jeffery, S.

    2012-01-01

    We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of microcephaly and lymphedema from a

  12. Ultrabiomicroscopic-Histopathologic Correlations in Individuals with Autosomal Dominant Congenital Microcoria: Three-Generation Family Report

    Directory of Open Access Journals (Sweden)

    Arturo Ramirez-Miranda

    2011-05-01

    Full Text Available Background: Congenital microcoria (CMC is due to a maldevelopment of the dilator pupillae muscle of the iris, with a pupil diameter of less than 2 mm. It is associated with juvenile open angle glaucoma and myopia. We report on a three-generation Mexican-Mestizo family with CMC. The eldest member’s iris biopsy proved muscle anomalies. Further, we analyzed novel ultrasound biomicroscopy findings in the family members who did not require surgery. Patients and Methods: A 62-year-old woman, her 41-year-old son and her 9-year-old grandson affected with microcoria since birth, documented by clinical examination and ultrasound biomicroscopy. The eldest member underwent phacoemulsification, and a biopsy of the iris and the anterior capsule of the lens was taken. Results: Ultrasound biomicroscopy confirmed the CMC diagnosis showing iris thinning and a pupil diameter of less than 2 mm. Histopathology of the iris showed a significant reduction of smooth muscle cells, but no alterations of the anterior lens capsule. Discussion: Although CMC is a rare disorder, which is due to a maldevelopment of the dilator pupillae muscle of the iris, it could be associated with juvenile open angle glaucoma and myopia; therefore, precise diagnosis is required. Ultrasound biomicroscopy could be a great option to confirm the disorder.

  13. Congenital glaucoma due to dominant goniodysgenesis. A new concept of the heredity of glaucoma.

    OpenAIRE

    Jerndal, T

    1983-01-01

    Three typical pedigrees with hereditary glaucoma are presented, in which dominant goniodysgenesis is shown to be the actual genetic trait. Because of a marked variation in the expressivity of dysgenesis, the symptoms of the genetic malformation (elevated intraocular pressure and subsequent glaucoma) may appear early or late in life. Therefore, there is no justification in letting the patient's age at the onset of the symptoms decide the classification or the mode of inheritance of the glaucom...

  14. Assessment of adult congenital heart disease with multi-detector computed tomography - beyond coronary lumenography

    Energy Technology Data Exchange (ETDEWEB)

    Nicol, E.D. [Department of Radiology, Royal Brompton Hospital, London (United Kingdom) and Department of Cardiology, Royal Brompton Hospital, London (United Kingdom)]. E-mail: e.nicol@rbht.nhs.uk; Gatzoulis, M. [Adult Congenital Heart Centre and Centre for Pulmonary Hypertension, Royal Brompton Hospital and National Heart and Lung Institute, London (United Kingdom); Padley, S.P.G. [Department of Radiology, Royal Brompton Hospital, London (United Kingdom); Rubens, M. [Department of Radiology, Royal Brompton Hospital, London (United Kingdom)

    2007-06-15

    Adult congenital heart disease is an increasingly prevalent condition with more than 135,000 patients affected in England alone. With this increased patient population and an increase in interventional procedures being performed on them, traditional imaging techniques such as cardiac magnetic resonance (CMR) may be unavailable locally or contra-indicated. Cardiac multidetector computed tomography (MDCT) is rapidly emerging as an alternative imaging method for the investigation of these patients and this review highlights the broad application of cardiac MDCT to this population and makes recommendations on the stardardized reporting of complex congenital heart disease.

  15. Ant-egg cataract. A study of a family with dominantly inherited congenital (ant-egg) cataract, including a histological examination of the formed elements

    DEFF Research Database (Denmark)

    Nissen, Steffen; Schrøder, H D

    1979-01-01

    A family with "ant-egg" cataract in three generations is described. The cataract is congenital, probably of autosomal dominant inheritance. Light microscopy of the ant-eggs showed that they are made up of a peripheral zone of lens material and a large almost homogenous centre. Element analysis by X...

  16. Congenital anomalies of coronary arteries: role in the pathogenesis of sudden cardiac death.

    Science.gov (United States)

    Cheitlin, Melvin D; MacGregor, John

    2009-06-01

    After hypertrophic cardiomyopathy, coronary artery anomalies of origin from the wrong sinus of Valsalva are the second most common cause of sudden death on the athletic field in the USA. Although the right coronary artery arising from the left coronary sinus (ARCA) is four times as common as the left coronary artery arising from the anterior sinus (ALCA), it is the latter that is by far the more common cause of sudden death with or shortly after vigorous physical activity. Of the four types of ALCA, the interarterial type, where the left coronary artery passes anteriorly between the aorta and the right ventricular outflow tract, is the only type that places the patient at risk of sudden death. Another feature of this syndrome is the fact that sudden death occurs associated with or shortly after vigorous exercise and is very unusual after the patient is > 35 years of age. The mechanism by which there is sudden occlusion of the interarterial coronary artery is at present unknown, although there are a number of hypotheses involving the oblique passage of the vessel as it leaves the aorta. Sudden death is probably rare considering the number of people who have these anomalies. Symptoms premonitory to a fatal event such as exertional syncope, chest pain, or palpitations are probably common in patients at risk, and surgical correction is indicated in symptomatic patients at any age. In older asymptomatic patients, surgery is not recommended, since the incidence of sudden death in this age group is extremely small. In asymptomatic young patients, a stress test, preferably with radioisotope myocardial perfusion imaging or stress echocardiogram, should be done and surgical correction performed in those with ischemia provoked in the appropriate myocardial region. Since there is evidence that in patients who have survived a potentially fatal event, it is rare to be able to provoke ischemia with equal or greater exercise than had precipitated the malignant arrhythmia, the

  17. Results of treatment of congenital coronary artery fistulae in combination with cardiac arrhythmias

    Directory of Open Access Journals (Sweden)

    Bockeria L.A.

    2013-03-01

    and quality of life. Coronary angiography and computed tomography are the main diagnostic methods allowing to examine CAF. Hemodynamically non-compromised CAF coincided with CA require a follow-up and, if necessary, surgical and/or medical therapy of CA. Main indications for embolization are proximal location and single CAF. Indications for surgical on-pump repair are concomitant cardiac pathology and relatively large and wide CAF.

  18. A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts

    Science.gov (United States)

    Dang, Feng-Tao; Yang, Fa-Yu; Yang, Ye-Qin; Ge, Xiang-Lian; Chen, Ding; Zhang, Liu; Yu, Xin-Ping; Gu, Feng; Zhu, Yi-Hua

    2016-01-01

    AIM To identify a causative mutation in a three-generation family with autosomal dominant congenital total cataract and dissect the molecular consequence of the identified mutation. METHODS Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mutation were screened in recruited family members by polymerase chain reaction (PCR) of the two reported genes (CRYAA and GJA8) which were linked to human total cataracts and direct sequencing of the PCR product. The molecular consequences of the identified mutation was dissected. The plasmids carrying wild-type and mutant mouse ORF of Gja8, coding for connexin 50 (Cx50), were generated and ectopic expressed in 293 cells. Recombinant protein expression and cellular localization of recombinated Cx50 were assessed by confocal microscopy. RESULTS Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mutation were screened in recruited family members by PCR of the two reported genes (CRYAA and GJA8) which were linked to human total cataracts and direct sequencing of the PCR product. The molecular consequences of the identified mutation was dissected. The plasmids carrying wild-type and mutant mouse ORF of Gja8, coding for Cx50, were generated and ectopic expressed in 293 cells. Recombinant protein expression and cellular localization of recombinated Cx50 were assessed by confocal microscopy. CONCLUSION This study has identified a novel cataract mutation in GJA8, which adds a novel mutation to the existing spectrum of Cx50 mutations with cataract. The molecular consequences of p.F32I mutation in GJA8 exclude instability and the mislocalization of mutant Cx50 protein. PMID:27990357

  19. A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

    DEFF Research Database (Denmark)

    Arnaud, L.; Saison, C.; Helias, V.

    2010-01-01

    The congenital dyserythropoietic anemias (CDAs) are inherited red blood cell disorders whose hallmarks are ineffective erythropoiesis, hemolysis, and morphological abnormalities of erythroblasts in bone marrow We have identified a missense mutation in KLF1 of patients with a hitherto unclasified...

  20. A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia

    DEFF Research Database (Denmark)

    Arnaud, Lionel; Saison, Carole; Helias, Virginie

    2010-01-01

    The congenital dyserythropoietic anemias (CDAs) are inherited red blood cell disorders whose hallmarks are ineffective erythropoiesis, hemolysis, and morphological abnormalities of erythroblasts in bone marrow. We have identified a missense mutation in KLF1 of patients with a hitherto unclassified...

  1. Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies

    Science.gov (United States)

    Jin, Hyun-Seok; Kim, Jeonhyun; Kwak, Woori; Jeong, Hyeonsoo; Lim, Gyu-Bin

    2017-01-01

    Congenital cataracts can occur as a non-syndromic isolated ocular disease or as a part of genetic syndromes accompanied by a multi-systemic disease. Approximately 50% of all congenital cataract cases have a heterogeneous genetic basis. Here, we describe three generations of a family with an autosomal dominant inheritance pattern and common complex phenotypes, including bilateral congenital cataracts, short stature, macrocephaly, and minor skeletal anomalies. We did not find any chromosomal aberrations or gene copy number abnormalities using conventional genetic tests; accordingly, we conducted whole-exome sequencing (WES) to identify disease-causing genetic alterations in this family. Based on family WES data, we identified a novel BRD4 missense mutation as a candidate causal variant and performed cell-based experiments by ablation of endogenous BRD4 expression in human lens epithelial cells. The protein expression levels of connexin 43, p62, LC3BII, and p53 differed significantly between control cells and cells in which endogenous BRD4 expression was inhibited. We inferred that a BRD4 missense mutation was the likely disease-causing mutation in this family. Our findings may improve the molecular diagnosis of congenital cataracts and support the use of WES to clarify the genetic basis of complex diseases. PMID:28076398

  2. A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract.

    Science.gov (United States)

    Kong, X D; Liu, N; Shi, H R; Dong, J M; Zhao, Z H; Liu, J; Li-Ling, J; Yang, Y X

    2015-01-23

    Congenital cataract is caused by reduced transparency of the lens resulting from metabolic disorders during the fetal period. The disease shows great heterogeneity both clinically and genetically. We identified a 4-generation ethnic Han Chinese family affected by autosomal dominant congenital perinuclear cataract. The patients underwent full clinical and ophthalmologic examinations to rule out any concomitant disorders. Blood samples were collected and genomic DNA was extracted. Potential mutations in the candidate gene alpha A crystallin (CRYAA) were screened. Prenatal diagnosis was then provided for a fetus of the affected proband by chorionic villus sampling. In all patients, DNA sequencing of the CRYAA gene revealed a novel 3-bp deletion mutation in exon 3 (c.246_248delCGC), which led to deletion of codon 117 encoding arginine (p.117delR) in the peptide chain. The same mutation was not found among unaffected and healthy individuals. Bioinformatic analysis revealed that although the c.246_248delCGC is an 'in-frame' mutation, removal of arginine resulted in a significant change in the protein structure. The fetus did not possess this mutation and was confirmed to be healthy at 1-year follow-up. A novel disease-causing mutation, c.246_248delCGC (p.117delR), of the CRYAA gene has been identified in a Chinese family with autosomal-type perinuclear congenital cataracts. This is also the first report of prenatal diagnosis of this type of congenital cataract.

  3. Diagnostic and therapeutic approach of congenital solitary coronary artery fistulas in adults : Dutch case series and review of literature

    NARCIS (Netherlands)

    Said, S. A. M.; Nijhuis, R. L. G.; op den Akker, J. W.; Kimman, G. P.; Van Houwelingen, K. G.; Gerrits, D.; Huisman, A. B.; Slart, R. H. J. A.; Nicastia, D. M.; Koomen, E. M.; Tans, A. C.; Al-Windy, N. Y. Y.; Sonker, U.; Slagboom, T.; Pronk, A. C. B.

    2011-01-01

    Background Coronary artery fistulas (CAFs) are infrequent anomalies, coincidentally detected during coronary angiography (CAG). Aim To elucidate the currently used diagnostic imaging modalities and applied therapeutic approaches. Materials and Methods Five Dutch patients were found to have CAFs. A t

  4. Evaluation of image quality and radiation dose of thoracic and coronary dual-source CT in 110 infants with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Saad, Moez Ben; Rohnean, Adela; Sigal-Cinqualbre, Anne; Adler, Ghazal; Paul, Jean-Francois [CC Marie Lannelongue, Radiology Department, Plessis-Robinson (France)

    2009-07-15

    There are only a few reports on the diagnostic accuracy, and the technical and clinical feasibility, of multidetector CT (MDCT) in infants with congenital heart disease (CHD). To evaluate the image quality and radiation dose of DSCT in babies with CHD. From November 2006 to November 2007, 110 consecutive infants with CHD referred for pre- or postoperative CT evaluation were included. All these infants had a spiral angiothoracic DSCT scan after injection of 300 mg/ml iopromide at 0.5-1 ml/s with a power injector using a low-dose protocol (80 kVp and 10 mAs/kg). Of these infants, 34 also underwent an ECG-gated coronary CT scan for evaluation of the course of the coronary arteries. No serious adverse events were recorded. The mean dose-length product was 8{+-}6 mGy.cm (effective dose 0.5{+-}0.2 mSv) and 21{+-}9 mGy.cm (effective dose 1.3{+-}0.6 mSv) during the non-ECG-gated spiral acquisition and ECG-gated acquisition, respectively. Diagnostic quality images were achieved with the spiral acquisition in 89% of cases. Compared to the spiral mode, ECG-gated acquisition significantly improved the visualization of the coronary arteries, with a diagnostic rate of 91% and 84% for the left and right coronary arteries, respectively. DSCT together with iopromide at 300 mg/ml is a valuable tool for the routine clinical evaluation of infants with CHD. ECG-gated acquisition provides reliable visualization of the course of the coronary arteries. (orig.)

  5. The archaeology of uncommon interventions: Articulating the rationale for transcatheter closure of congenital coronary artery fistulas in asymptomatic children.

    Science.gov (United States)

    McElhinney, Doff B

    2016-02-15

    Transcatheter closure of coronary artery fistulas can be executed successfully in infants and children with few serious procedural complications. Indications for and long-term outcomes of closure of coronary artery fistulas remain poorly defined. Registries may offer the best opportunity for advancing our knowledge about uncommon interventions such as coil or device closure of coronary artery fistulas, but to do so, they must include sufficient data and evaluate factors potentially associated with salutary or adverse outcome.

  6. Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

    NARCIS (Netherlands)

    Neveling, Kornelia; Martinez-Carrera, Lilian A.; Hoelker, Irmgard; Heister, Angelien; Verrips, Aad; Hosseini-Barkooie, Seyyed Mohsen; Gilissen, Christian; Vermeer, Sascha; Pennings, Maartje; Meijer, Rowdy; te Riele, Margot; Frijns, Catharina J. M.; Suchowersky, Oksana; MacLaren, Linda; Rudnik-Schoeneborn, Sabine; Sinke, Richard J.; Zerres, Klaus; Lowry, R. Brian; Lemmink, Henny H.; Garbes, Lutz; Veltman, Joris A.; Schelhaas, Helenius J.; Scheffer, Hans; Wirth, Brunhilde

    2013-01-01

    Spinal muscular atrophy (SMA) is a heterogeneous group of neuromuscular disorders caused by degeneration of lower motor neurons. Although functional loss of SMN1 is associated with autosomal-recessive childhood SMA, the genetic cause for most families affected by dominantly inherited SMA is unknown.

  7. Radiation dose for thoracic and coronary step-and-shoot CT using a 128-slice dual-source machine in infants and small children with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Paul, Jean-Francois; Rohnean, Adela; Elfassy, Eric; Sigal-Cinqualbre, Anne [Radiology-Centre Chirurgical Marie Lannelongue, Plessis-Robinson (France)

    2011-02-15

    For coronary artery visualization, retrospective ECG-gated acquisition by dual-source computed tomography (DSCT) was superior to spiral non-ECG-gated acquisition in a paediatric population of congenital heart disease (CHD) patients. However, retrospective cardiac CT is associated with substantial radiation doses to the patient. Recently, DSCT with end-systolic reconstruction was found to be robust for imaging the coronary arteries in patients with high heart rates. To evaluate step-and-shoot DSCT with end-systolic reconstruction for evaluating the heart, coronary arteries and other thoracic structures in young children with CHD. All neonates and children younger than 6 years of age who were referred to our institution for CHD evaluation between September and October 2009 were included in the study. ECG-gated DSCT was performed in sequential prospective mode centred on the systolic phase identified by ECG analysis. To assess the radiation dose, we recorded the dose-length product (DLP) in mGy.cm and the effective dose in mSv estimated from the DLP. Overall image quality was evaluated using a 5-grade scoring system and was assessed by looking at cardiac and vascular structures. The image quality for the proximal and middle segments of the right and left coronary arteries was also evaluated using a 5-grade scale. Images of diagnostic quality (grade {>=} 3) were obtained in all 30 children with a mean image quality grade of 4.7 {+-} 0.6 (range, 3-5). Mean DLP was 5.7 {+-} 4.8 mGy*cm (range, 1-22 mGy cm) and mean effective radiation dose was 0.26 {+-} 0.16 mSv (range, 0.05-0.8 mSv). Prospective ECG-gated thoracic DSCT at end-systole usually provides adequate thoracic and coronary artery image quality in neonates, infants and young children with CHD, independent of heart rate. This new method is associated with lower radiation doses compared to previous literature (mean effective dose, 0.26 mSv). (orig.)

  8. Echocardiographic features defining right dominant unbalanced atrioventricular septal defect: a multi-institutional Congenital Heart Surgeons' Society study.

    Science.gov (United States)

    Cohen, Meryl S; Jegatheeswaran, Anusha; Baffa, Jeanne M; Gremmels, David B; Overman, David M; Caldarone, Christopher A; McCrindle, Brian W; Mertens, Luc

    2013-07-01

    Definition and management of right dominant unbalanced atrioventricular septal defect (AVSD) remains challenging because unbalance entails a spectrum of left heart hypoplasia. Previous work has highlighted atrioventricular valve (AVV) index as a reasonable defining echocardiographic measure. We sought to assess which additional echocardiographic features might provide further characterization. From a multi-institutional cohort of complete AVSD, 52 preoperative echocardiograms of patients with presumed right dominant unbalanced AVSD (based on AVV index) and 60 randomly selected preoperative echocardiograms from patients with presumed balanced AVSD were reviewed. Cluster analysis of echocardiographic variables was used to group patients with similar features. Discriminant function analysis was used to explore which variables differentiated these groups. Three groups were identified from the cluster analysis. Echocardiographic variables that differentiated these groups were right ventricle:left ventricle inflow angle, LV width/LV length, left AVV color diameter at smallest inflow, left AVV color diameter at annulus, right AVV overriding left atrium, and LV width. Based on procedures and outcomes, 1 group likely represented balanced patients, whereas 2 groups with similar outcomes likely represented unbalanced patients. The dominant differentiating echocardiographic variable between the 3 cluster groups was the right ventricle:LV inflow angle (partial R²=0.86), defined as the angle between the base of the right ventricle and LV free wall, using the crest of the ventricular septum as apex of the angle. The angle of right ventricle/LV inflow and other surrogates of inflow may be important defining echocardiographic measures of right dominant unbalanced AVSD, although confirmation is needed.

  9. Dominância coronariana em corações humanos em moldes por corrosão Coronary dominance patterns in the human heart investigated by corrosion casting

    Directory of Open Access Journals (Sweden)

    Décio Cavalet Soares Abuchaim

    2009-12-01

    Full Text Available OBJETIVO: Esse trabalho tem como objetivo analisar os padrões de dominância circulatória de corações humanos, o número de ramos que a artéria coronária direita fornece ao ventrículo esquerdo, o número de ramos que a artéria coronária esquerda fornece ao direito e a presença de anastomoses intercoronarianas, com sua localização e frequência. MÉTODOS: Foram produzidos 25 moldes de corações submetidos à instilação de acrílico colorido e posterior corrosão com ácido clorídrico, no Laboratório de Cirurgia Experimental da FURB. Peças com lesões e cicatrizes não foram usadas. RESULTADOS: Os corações pertenciam a indivíduos de ambos os sexos, sendo 17 (68% de indivíduos do sexo masculino, com idade média de 40,2 anos (15 a 70 anos. A dominância direita ocorreu em 18 (72% peças, com 1, 2, 3 e 4 ramos em 2, 14, 2 e 1 moldes, respectivamente; a dominância esquerda foi observada em 5 (20% casos, com 1 ramo em 4 moldes e 2 em 1 molde; e a dominância balanceada foi verificada em 2 (8% moldes. Houve diferença significativa entre a dominância direita e esquerda (α > 5%, direita e balanceada (α > 5% e sem significância entre esquerda e balanceada (α OBJECTIVES: The aim of this work was to analyze the dominance patterns of the circulation of the human heart, the number of branches from the right coronary artery to the left ventricle, the number of branches from the left coronary artery to the right ventricle and the frequency and location of intercoronary anastomoses. METHODS: Casts were made of 25 hearts by the injection of colored acrylic resin and subsequent corrosion using hydrochloric acid at the experimental surgery laboratory of Furb. Specimens with lesions or scars were discarded. RESULTS: The hearts, from both men (17 - 68% and women (8 - 32%, had a mean age of 40.2 (15 to 70 years-old. Right dominance occurred in 18 (72% subjects, with 1, 2, 3 and 4 branches leading to the left ventricle in 2, 14, 2 and 2

  10. Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts

    Institute of Scientific and Technical Information of China (English)

    Han-Yi Min; Peng-Peng Qiao; Asan; Zhi-Hui Yan; Hui-Feng Jiang; Ya-Ping Zhu; Hui-Qian Du

    2016-01-01

    Background:Congenital cataract (CC) is the leading cause of visual impairment or blindness in children worldwide.Because of highly genetic and clinical heterogeneity,a molecular diagnosis of the lens disease remains a challenge.Methods:In this study,we tested a three-generation Chinese family with autosomal dominant CCs by targeted sequencing of 45 CC genes on next generation sequencing and evaluated the pathogenicity of the detected mutation by protein structure,pedigree validation,and molecular dynamics (MD) simulation.Results:A novel 15 bp deletion on GJA8 (c.426_440delGCTGGAGGGGACCCT or p.143_147delLEGTL) was detected in the family.The deletion,concemed with an in-frame deletion of 5 amino acid residues in a highly evolutionarily conserved region within the cytoplasmic loop domain of the gap junction channel protein connexin 50 (Cx50),was in full cosegregation with the cataract phenotypes in the family but not found in 1100 control exomes.MD simulation revealed that the introduction of the deletion destabilized the Cx50 gap junction channel,indicating the deletion as a dominant-negative mutation.Conclusions:The above results support the pathogenic role of the 15 bp deletion on GJA8 in the Chinese family and demonstrate targeted genes sequencing as a resolution to molecular diagnosis of CCs.

  11. Coronary Artery Imaging in Children

    Science.gov (United States)

    2015-01-01

    Coronary artery problems in children usually have a significant impact on both short-term and long-term outcomes. Early and accurate diagnosis, therefore, is crucial but technically challenging due to the small size of the coronary artery, high heart rates, and limited cooperation of children. Coronary artery visibility on CT and MRI in children is considerably improved with recent technical advancements. Consequently, CT and MRI are increasingly used for evaluating various congenital and acquired coronary artery abnormalities in children, such as coronary artery anomalies, aberrant coronary artery anatomy specific to congenital heart disease, Kawasaki disease, Williams syndrome, and cardiac allograft vasculopathy. PMID:25741188

  12. Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion.

    Science.gov (United States)

    Kumari, Sindhu S; Gandhi, Jason; Mustehsan, Mohammed H; Eren, Semih; Varadaraj, Kulandaiappan

    2013-11-01

    Aquaporin 0 (AQP0) performs dual functions in the lens fiber cells, as a water pore and as a cell-to-cell adhesion molecule. Mutations in AQP0 cause severe lens cataract in both humans and mice. An arginine to cysteine missense mutation at amino acid 33 (R33C) produced congenital autosomal dominant cataract in a Chinese family for five generations. We re-created this mutation in wild type human AQP0 (WT-AQP0) cDNA by site-directed mutagenesis, and cloned and expressed the mutant AQP0 (AQP0-R33C) in heterologous expression systems. Mutant AQP0-R33C showed proper trafficking and membrane localization like WT-AQP0. Functional studies conducted in Xenopus oocytes showed no significant difference (P > 0.05) in water permeability between AQP0-R33C and WT-AQP0. However, the cell-to-cell adhesion property of AQP0-R33C was significantly reduced (P cataract suggest that the conserved positive charge of Extracellular Loop A may play an important role in bringing fiber cells closer. The proposed schematic models illustrate that cell-to-cell adhesion elicited by AQP0 is vital for lens transparency and homeostasis.

  13. CONGENITAL QUADRICUSPID AORTIC-VALVE

    NARCIS (Netherlands)

    BROUWER, MHJ; DEGRAAF, JJ; EBELS, T

    1993-01-01

    Two patients with a quadricuspid aortic valve are described, one of them with concomitant juxtaposed coronary orifices facing the right hand facing sinus. The etiology and incidence of this congenital anomaly will be discussed.

  14. [Congenital aniridia].

    Science.gov (United States)

    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.

  15. Coronary artery aneurysms

    Energy Technology Data Exchange (ETDEWEB)

    Koischwitz, D.; Harder, T.; Schuppan, U.; Thurn, P.

    1982-04-01

    Seven saccular coronary artery aneurysms have been demonstrated in the course of 1452 selective coronary artery angiograms. In six patients they were arterio-sclerotic; in one patient the aneurysm must have been congenital or of mycotic-embolic origin. The differential diagnosis between true aneurysms and other causes of vascular dilatation is discussed. Coronary artery aneurysms have a poor prognosis because of the possibility of rupture with resultant cardiac tamponade, or the development of thrombo-embolic myocardial infarction. These aneurysms can only be diagnosed by means of coronary angiography and require appropriate treatment.

  16. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1995-01-01

    950283 Surgical treatment of congenital coronaryartery fistula.CAO Qingheng(曹庆亨),et al.DeptCardiovasc Surg,Shanghai Chest Hosp,Shanghai,200030.Shanghai Med J 1995;18(1):10-12.From October 1957 through December 1990,twenty-five patients with congenital coronary artery fistula(CCAF),including 3 cases complicated with giantcoronary artery aneurysms,underwent surgical repair.The ages ranged from 4 to 47 years (mean 19.8years).CCAF originated from the right coronaryartery in 17 cases (68.0%) and terminated into RA,RV,pulmonary artery (PA) or LV,in 8 cases (32.

  17. Congenital Hypothyroidism

    Science.gov (United States)

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

  18. Coronary Fistulas: A Case Series

    Directory of Open Access Journals (Sweden)

    Nada Fennich

    2014-01-01

    Full Text Available Coronary artery fistula is an uncommon finding during angiographic exams. We report a case series of five patients with congenital coronary fistulas. The first patient was 56 years old and had a coronary fistula associated with a partial atrio ventricular defect, the second patient was 54 years old and had two fistulas originating from the right coronary artery with a severe atherosclerotic coronary disease, the third patient was 57 years old with a fistula originating from the circumflex artery associated with a rheumatic mitral stenosis, the fourth patient was 50 years old and had a fistulous communication between the right coronary artery and the right bronchial artery, and the last patient was 12 years old who had bilateral coronary fistulas draining into the right ventricle with an aneurismal dilatation of the coronary arteries. Angiographic aspects of coronary fistulas are various; management is controversial and depends on the presence of symptoms.

  19. Anomalous Coronary Artery: Run of a Lifetime.

    Science.gov (United States)

    Green, Michael Stuart; Sehgal, Sankalp; Smukler, Naomi; Suber, LaDouglas Jarod; Saththasivam, Pooven

    2016-09-01

    The anatomy of the coronary circulation is well described with incidence of congenital anomalies of approximately 0.3% to 1.0%. Although often incidental, 20% are life-threatening. A 25-year-old woman with syncopal episodes collapsed following a 10-km run. Coronary anatomy evaluation showed an anomalous left main coronary artery originating from the right sinus of valsalva and following a course between the aorta and the pulmonary outflow tract. Percutaneous coronary intervention was followed by eventual surgical revascularization. Abnormal course of coronary arteries plays a role in the pathogenesis of sudden death on exertion. Origin of the left main coronary from the right sinus of valsalva is a rare congenital anomaly. The expansion of the roots of the aorta and pulmonary trunk with exertion lead to compression of the coronary artery and syncope. Our patient raises awareness of a potentially fatal coronary artery path. Intraoperative identification of anomalous coronaries by utilizing intraoperative transesophageal echocardiography was critical.

  20. Superdominant Right Coronary Artery with Absence of Left Circumflex and Anomalous Origin of the Left Anterior Descending Coronary from the Right Sinus: An Unheard Coronary Anomaly Circulation

    Directory of Open Access Journals (Sweden)

    Marcos Danillo Peixoto Oliveira

    2015-01-01

    Full Text Available Coronary artery anomalies are congenital changes in their origin, course, and/or structure. Most of them are discovered as incidental findings during coronary angiographic studies or at autopsies. We present herein the case of a 70-year-old man with symptomatic severe aortic valvar stenosis whose preoperative coronary angiogram revealed a so far unreported coronary anomaly circulation pattern.

  1. A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family

    Institute of Scientific and Technical Information of China (English)

    Jia-Ze Tan; Yuan Man; Fei Xiao

    2016-01-01

    Background:Congenital myasthenic syndromes are a group orrare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction.Here,we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome (SCCMS).Methods:Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined,and next-generation sequencing followed by direct sequencing was carried out.Results:The patients revealed variability in clinical and electrophysiological features.However,weakness,scoliosis,and repetitive-compound muscle action potential were found in all affected members in the family.A heterozygous C>T missense mutation at nucleotide 865 in acetylcholine receptor epsilon-subunit (CHRNE) gene that causes a leucine-to-phenylalanine substitution at position 289 (L289F) was found.Conclusions:We reported a SCCMS family of Chinese origin.In the family,classical clinical phenotype with phenotypic variability among different members was found.Genetic testing could help diagnose this rare disease.

  2. Congenital atresia of left main coronary artery in 4 children: case report and literature review%先天性左冠状动脉主干闭锁四例并文献复习

    Institute of Scientific and Technical Information of China (English)

    肖燕燕; 韩玲; 金梅; 丁文虹

    2014-01-01

    Objective To investigate the clinical manifestations and treatment of congenital atresia of the left main coronary artery (CLMCA-A).Method Four patients were diagnosed to have CLMCA-A from June 2010 to June 2012 in Beijing Anzhen Hospital.Clinical manifestations,ultrasound,ECG and angiographic characteristics were analyzed and summarized.Result Of the 4 cases,age of onset was 3 months to 2 yrs.Three cases were diagnosed by angiography,and 1 case by CTA.All 4 cases had chronic heart failure symptoms and signs,such as sweating,shortness of breath,easily choked by milk,predispose to pneumonia,activity intolerance.ECG showed abnormal Q wave and other ischemic signs such as ST-T segment depression.Ultrasonography showed left ventricular enlargement,left ventricular systolic function was normal or slightly reduced,and there was moderate to large amount of mitral valve regurgitation.Left ventricular trabeculations increased.Coronary collateral circulation increased.Left coronary artery appeared to be slender and disconnected with left coronary artery sinus.Aortic root angiography was the golden diagnostic standard.Angiography was performed in 3 patients and showed that left main coronary artery had a blind end,diameter 1.1-2.0 mm.The right coronary artery was found rising from the right coronary sinus and visible on coronary collateral circulation.Contrast agent developing sequence:right coronary arterycollateral vessels-left coronary artery distal branches-left main coronary artery.CTA exam was performed in 2 cases and in 1 case the diagnoses was confirmed.All the 4 patients are currently in the close follow-up,digoxin and diuretics were taken everyday and clinical symptoms were improved.Conclusion CLMCA-A is not rare,its clinical manifestations should be differentiated from those of cardiomyopathy,endocardial fibroelastosis,congenital valvular disease and abnormal left coronary artery originating from pulmonary artery etc.For pediatric patients with cardiac enlargement

  3. Introduction: December 2015 HeartWeek Issue of Cardiology in the Young - Highlights of HeartWeek 2015: Challenges and Dilemmas of Pediatric Cardiac Care including Heart Failure in Children and Congenital Abnormalities of the Coronary Arteries.

    Science.gov (United States)

    Jacobs, Jeffrey P

    2015-12-01

    This December Issue of Cardiology in the Young represents the 13th annual publication in Cardiology in the Young generated from the two meetings that composed "HeartWeek in Florida". "HeartWeek in Florida", the joint collaborative project sponsored by the Cardiac Centre at the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, together with Johns Hopkins All Children's Heart Institute of Saint Petersburg, Florida, averages over 1000 attendees every year and is now recognised as one of the major planks of continuing medical and nursing education for those working in the fields of diagnosis and treatment of cardiac disease in the foetus, neonate, infant, child, and adult. "HeartWeek in Florida" combines the International Symposium on Congenital Heart Disease, organised by All Children's Hospital and Johns Hopkins Medicine, and entering its 16th year, with the Annual Postgraduate Course in Paediatric Cardiovascular Disease, organised by The Children's Hospital of Philadelphia entering its 19th year. This December 2015 Issue of Cardiology in the Young features highlights of the two meetings that compose HeartWeek. Johns Hopkins All Children's Heart Institute's 15th Annual International Symposium on Congenital Heart Disease was held at the Renaissance Vinoy Resort & Golf Club, Saint Petersburg, Florida, from Friday, 6 February, 2015, to Monday, 9 February, 2015. This Symposium was co-sponsored by The American Association for Thoracic Surgery and its special focus was "Congenital Abnormalities of the Coronary Arteries". The Children's Hospital of Philadelphia's annual meeting - Cardiology 2015, the 18th Annual Update on Paediatric and Congenital Cardiovascular Disease: "Challenges and Dilemmas" - was held at the Hyatt Regency Scottsdale Resort and Spa at Gainey Ranch, Scottsdale, Arizona, from Wednesday, 11 February, 2015, to Sunday, 15 February, 2015. We would like to acknowledge the tremendous contributions made to paediatric and congenital cardiac care

  4. Relative genes of autosomal dominant congenital cataracts%常染色体显性遗传先天性白内障相关基因的研究进展

    Institute of Scientific and Technical Information of China (English)

    邱靖森; 张铭志

    2012-01-01

    先天性白内障是由于胚胎期晶状体代谢异常而导致的自身透明度下降的致盲性疾病,遗传因素与疾病的发生、发展有很大的联系.目前研究发现先天性白内障的发生至少与22个基因的变异有关,其中以常染色体显性遗传为主,涉及的基因包括晶状体蛋白基因(CRY)、缝隙连接通道蛋白基因(GJA)、膜蛋白基因(MIP)、细胞骨架蛋白基因(BFSP)和转录调节因子基因等.本文对近几年来关于常染色体显性遗传先天性白内障致病基因方面的研究进行综述.%Congenital cataract is developed due to the metabolic disturbance of lens in embryo,which induces the degression of the transparency of lens.Genetic factors are associated with development of this disease.Autosomal dominant congenital cataract (ADCC) is the major type in reported congenital cataract.So far,twenty-two genes associated with ADCC have been found.These genes invole CRY,GJA,MIP,BFSP,transcription factor,and so on.This paper summarizes the genetic researches on ADCC in recent years.

  5. Congenital Hypothyroidism

    Science.gov (United States)

    ... 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 ...

  6. Coronary artery anatomy and variants

    Energy Technology Data Exchange (ETDEWEB)

    Malago, Roberto; Pezzato, Andrea; Barbiani, Camilla; Alfonsi, Ugolino; Nicoli, Lisa; Caliari, Giuliana; Pozzi Mucelli, Roberto [Policlinico G.B. Rossi, University of Verona, Department of Radiology, Verona (Italy)

    2011-12-15

    Variants and congenital anomalies of the coronary arteries are usually asymptomatic, but may present with severe chest pain or cardiac arrest. The introduction of multidetector CT coronary angiography (MDCT-CA) allows the detection of significant coronary artery stenosis. Improved performance with isotropic spatial resolution and higher temporal resolution provides a valid alternative to conventional coronary angiography (CCA) in many patients. MDCT-CA is now considered the ideal tool for three-dimensional visualization of the complex and tortuous anatomy of the coronary arteries. With multiplanar and volume-rendered reconstructions, MDCT-CA may even outperform CCA in determining the relative position of vessels, thus providing a better view of the coronary vascular anatomy. The purpose of this review is to describe the normal anatomy of the coronary arteries and their main variants based on MDCT-CA with appropriate reconstructions. (orig.)

  7. Assessments of Coronary Artery Visibility and Radiation Dose in Infants with Congenital Heart Disease on Cardiac 128-slice CT and on Cardiac 64-slice CT.

    Science.gov (United States)

    Cui, Y; Huang, M; Zheng, J; Li, J; Liu, H; Liang, C

    2016-01-01

    The aim of this study was to compare the coronary artery visibility and radiation dose in infants with CHD on cardiac 128-slice CT and on cardiac 64-slice CT. The images of 200 patients were analyzed in this study, 100 patients were selected randomly from a group of 789 infants (coronary artery segments was graded on a four-point scale. The coronary arteries were considered to be detected or visible when grade was 2 or higher. The visibility of the coronary artery segments and the radiation dose was compared between the two groups. Except for the rate of LM (96 vs. 99%), the detection rates of the total, LAD, LCX, RCA, and the proximal segment of the RCA in the 256-slice CT group were significantly higher than those in the 64-slice CT group (51.7, 53.33, 33.67, 53.33, and 99 vs. 34.8, 34.33, 18, 30.67, and 75%, respectively). The counts of visibility score (4/3/2/1) for the LM and the proximal segment of the RCA were 62/22/12/4 and 56/20/17/7, respectively, in the 128-slice CT group and 17/42/30/1 and 9/30/38/25, respectively, in the 64-slice CT group. There were significant differences, especially for score 4 and 3, between the two groups. The radiation dose in the 128-slice CT group was significantly decreased than those in the 64-slice CT group (CTDIvol 1.88 ± 0.51 vs. 5.61 ± 0.63 mGy; SSDE 4.48 ± 1.15 vs. 13.97 ± 1.52 mGy; effective radiation dose 1.36 ± 0.44 vs. 4.06 ± 0.7 mSv). With reduced radiation dose, the visibility of the coronary artery in infants with CHD via prospective ECG-triggered mode on a 128-slice CT is superior to that of the 64-slice CT using retrospective ECG-gated spiral mode.

  8. Successful percutaneous coronary intervention for chronic total occlusion of right coronary artery in patient with dextrocardia.

    Science.gov (United States)

    Munawar, Muhammad; Hartono, Beny; Iskandarsyah, Kurniawan; Nguyen, Thach N

    2013-07-01

    Situs inversus with dextrocardia is rare congenital anomaly. Coronary artery disease in such patients is quite rare. We reported a 52-year-old man with dextrocardia and chronic total occlusion at the proximal right coronary artery just after conus branch and severe stenosis at the proximal left anterior descending artery. He underwent successful percutaneous coronary intervention with stenting of total occluded right coronary artery and simultaneously stenting of the proximal left anterior descending artery.

  9. Unroofed coronary sinus in a patient with neurofibromatosis type 1

    Directory of Open Access Journals (Sweden)

    Luciano Pereira Bender

    2013-12-01

    Full Text Available OBJECTIVE: To report the uncommon association between neurofibromatosis type 1 (NF1 and unroofed coronary sinus. CASE DESCRIPTION: Girl with four years and six months old who was hospitalized for heart surgery. The cardiac problem was discovered at four months of life. On physical examination, the patient presented several café-au-lait spots in the trunk and the limbs and freckling of the axillary and groin regions. Her father had similar skin findings, suggesting the NF1 diagnosis. The cardiac evaluation by echocardiography disclosed an atrial septal defect of unroofed coronary sinus type. This cardiac finding was confirmed at surgery. The procedure consisted of the atrial septal defect repair with autologous pericardium. COMMENTS: NF1 is a common autosomal dominant disorder caused by mutations in the NF1 gene. Among the NF1 findings, congenital heart defects are considered unusual. In the literature review, there was no association between NF1 and unroofed coronary sinus, which is a rare cardiac malformation, characterized by a communication between the coronary sinus and the left atrium, resultant from the partial or total absence of the coronary sinus roof. It represents less than 1% of atrial septal defect cases. More reports are important to determine if this association is real or merely casual, since NF1 is a common condition.

  10. Direct communication between the left circumflex and the right coronary arteries: a very rare coronary anomaly circulation.

    Science.gov (United States)

    Oliveira, Marcos Danillo Peixoto; Cavalcanti, Rafael R César; Kajita, Alexandre H; Miranda, Thais; Kajita, Luiz J; Horta, Pedro E; Ribeiro, Expedito E; Lemos, Pedro Alves

    2016-02-01

    Coronary artery anomalies (CAA) are congenital changes in their origin, course, and/or structure. Intercoronary communication (ICC) is a very rare subset with uni- or bidirectional blood flow between two or more coronary arteries. We present the case of a 58-year-old man with an acute coronary syndrome whose coronary angiography incidentally showed a surprising and very rare communication between the right coronary and left circumflex arteries.

  11. Physiologic assessment of coronary artery fistula

    Energy Technology Data Exchange (ETDEWEB)

    Gupta, N.C.; Beauvais, J. (Creighton Univ., Omaha, NE (USA))

    1991-01-01

    Coronary artery fistula is an uncommon clinical entity. The most common coronary artery fistula is from the right coronary artery to the right side of the heart, and it is less frequent to the pulmonary artery. The effect of a coronary artery fistula may be physiologically significant because of the steal phenomenon resulting in coronary ischemia. Based on published reports, it is recommended that patients with congenital coronary artery fistulas be considered candidates for elective surgical correction to prevent complications including development of congestive heart failure, angina, subacute bacterial endocarditis, myocardial infarction, and coronary aneurysm formation with rupture or embolization. A patient is presented in whom treadmill-exercise thallium imaging was effective in determining the degree of coronary steal from a coronary artery fistula, leading to successful corrective surgery.

  12. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-09-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure especially through the apoptosis cascades.Key words: Ullrich congenital muscular dystrophy, collgen VI genes, Bethlemmyopathy, autophagy.

  13. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-06-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in the Western world mostly seen with de novo dominant mutations in the collagen VI genes. Milder form of the condition is the Bethlem myopathy. There may be overlap forms in the clinic resembling the Ehler-Danlos syndrome. There has been some radical efforts for cure especially through the apoptosis cascades.

  14. Genetics of Congenital Cataract.

    Science.gov (United States)

    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.

  15. [Sex differences in congenital heart disease].

    Science.gov (United States)

    Aubry, P; Demian, H

    2016-12-01

    Gender influences the clinical presentation and the management of some acquired cardiovascular diseases, such as coronary artery disease, resulting in different outcomes. Differences between women and men are also noticed in congenital heart disease. They are mainly related to the prevalence and severity of some congenital heart defects at birth, and in adulthood to the prognosis, incidence of Eisenmenger syndrome and risks of pregnancy. The role of gender on the risk of operative mortality of congenital heart surgery remains debated. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  16. Ullrich Congenital Muscular Dystrophy

    OpenAIRE

    2011-01-01

    ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure espe...

  17. [Congenital thrombophilia].

    Science.gov (United States)

    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.

  18. Congenital Myopathy

    Science.gov (United States)

    ... evaluate the electrical activity of the muscle, a muscle biopsy, and genetic testing. There are currently seven distinct types of congenital myopathy, with some variation in symptoms, complications, treatment options, and outlook. Nemaline ...

  19. Congenital syphilis

    Science.gov (United States)

    Congenital syphilis is caused by the bacteria Treponema pallidum , which is passed from mother to child during fetal development or at birth. Nearly half of all children infected with syphilis while they ...

  20. Coronary artery anomalies in Turner Syndrome

    DEFF Research Database (Denmark)

    Viuff, Mette H; Trolle, Christian; Wen, Jan;

    2016-01-01

    BACKGROUND: Congenital heart disease, primarily involving the left-sided structures, is often seen in patients with Turner Syndrome. Moreover, a few case reports have indicated that coronary anomalies may be more prevalent in Turner Syndrome than in the normal population. We therefore set out...... to systematically investigate coronary arterial anatomy by computed tomographic coronary angiography (coronary CTA) in Turner Syndrome patients. METHODS: Fifty consecutive women with Turner Syndrome (mean age 47 years [17-71]) underwent coronary CTA. Patients were compared with 25 gender-matched controls. RESULTS......: Coronary anomaly was more frequent in patients with Turner Syndrome than in healthy controls [20% vs. 4% (p = 0.043)]. Nine out of ten abnormal cases had an anomalous left coronary artery anatomy (absent left main trunk, n = 7; circumflex artery originating from the right aortic sinus, n = 2). One case had...

  1. [Congenital epulis].

    Science.gov (United States)

    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.

  2. Congenital amusias.

    Science.gov (United States)

    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."

  3. Coronary artery anatomy of the goat.

    Science.gov (United States)

    Lipovetsky, G; Fenoglio, J J; Gieger, M; Srinivasan, M R; Dobelle, W H

    1983-05-01

    The coronary arteries of the goat heart were studied using angiographic techniques and molds of the coronary vessel trees. Blood supplies to the left and right ventricles, interventricular septum, atrioventricular node, and apex of the caprine heart were studied. The goat possesses a left dominant pattern of coronary supply with relatively uniform coronary anatomy and may provide a good large animal model for testing cardiovascular assist devices.

  4. Single coronary artery; extremely rare coronary anomaly successfully treated surgically in young adult male.

    LENUS (Irish Health Repository)

    Shah, A R

    2010-05-01

    Single coronary artery arising from aortic root, is a rare congenital anomaly. A 30-year-old male presented with acute myocardial infarction (MI) complaining of chest pain and raised troponin levels. Emergency angiography showed no coronary lesions but both left and right coronary arteries arising from single ostium. Patient was operated electively and perioperative findings confirmed the diagnosis of single coronary artery, as left coronary artery after taking origin from right sinus of valsalva runs through the septum, before dividing into left anterior descending and circumflex branches. The single coronary ostium opened with a slit like incision over the course of left main coronary, making the size of ostium three to four times bigger than the native one. In addition left internal mammary artery was harvested and grafted to the left anterior descending branch distally. Patient made successful recovery. Four months follow up dobutamine stress echo showed no inducible ischemia.

  5. Coronary microembolization.

    Science.gov (United States)

    Skyschally, Andreas; Leineweber, Kkirsten; Gres, Petra; Haude, Michael; Erbel, Raimund; Heusch, Gerd

    2006-09-01

    Atherosclerotic plaque rupture is the key event in the pathogenesis of acute coronary syndromes and it also occurs during coronary interventions. Atherosclerotic plaque rupture does not always result in complete thrombotic occlusion of the epicardial coronary artery with subsequent impending myocardial infarction, but may in milder forms result in the embolization of atherosclerotic and thrombotic debris into the coronary microcirculation. This review summarizes the present experimental pathophysiology of coronary microembolization in animal models of acute coronary syndromes and highlights the main consequences of coronary microembolization--reduced coronary reserve, microinfarction, inflammation and oxidative modification of contractile proteins, contractile dysfunction and perfusion-contraction mismatch.Furthermore, the review presents the available clinical evidence for coronary microembolization in patients and compares the clinical observations with observations in the experimental model.

  6. Congenital familial hypertonia.

    Science.gov (United States)

    DeLuca, Carl F; Cashore, William J

    2002-09-01

    1. This complex of symptoms appears to be congenital, familial, and hereditary. It is apparently transmitted by a dominant gene, probably on chromosome 5. 2. Hypertonicity with rigidity of all voluntary muscles usually presents at birth. 3. Feeding problems are due to dysphagia or laryngospasm associated with aspiration and dyspnea. 4. Respiratory problems are characterized by apneic episodes due to muscle spasm. 5. Prolonged episodes of muscular rigidity secondary to sudden stimuli result in frequent falls, characteristically en bloc, like a statue. 6. Continuous electromyographic activity even at rest (with absence of fasciculations) improves after intravenous diazepam.

  7. [Congenital hydrocephalus].

    Science.gov (United States)

    Malagón-Valdez, J

    2006-04-10

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

  8. Congenital Hydrocephalus.

    Science.gov (United States)

    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.

  9. Congenital Thrombocytopenia

    Institute of Scientific and Technical Information of China (English)

    王兆钺

    2011-01-01

    @@ Platelets are essential for normal hemostasis.Platelets adhere to damaged blood vessels, and then aggregate and promote activation of coagulation factors, resulting to ceasing bleeding.Both quantitative and qualitative abnormalities of platelets can cause bleeding problems.Among them, immune thrombocytopenias are the most common conditions.However, congenital thrombocytopenias are often neglected because of their relative rarity and complex laboratory tests.That causes misdiagnosis and unnecessary and potentially harmful treatments for many patients.

  10. Congenital diplopodia

    Energy Technology Data Exchange (ETDEWEB)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam [University of California, Davis, Department of Radiology, 4860 Y. Street, Suite 3100, CA 95817, Davis (United States)

    2003-11-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  11. [Congenital ranula].

    Science.gov (United States)

    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.

  12. [Bilateral coronary artery-pulmonary artery fistulas in a case with unstable angina pectoris].

    Science.gov (United States)

    Kepez, Alper; Kaya, Ergün Bariş; Aytemir, Kudret; Oto, Ali

    2008-03-01

    Bilateral coronary artery fistulas originating from both right and left coronary arteries are rare congenital abnormalities. A 58-year-old man presented with chest pain unrelated to exertion. Coronary angiography showed a fistula originating from the level of the first diagonal branch of the left anterior descending (LAD) coronary artery and a 95% stenosis just distal to the fistula. Right coronary angiography showed another fistula originating from the ostium of the right coronary artery. Both fistulas drained into the pulmonary artery. Coronary bypass surgery was performed for the LAD lesion using the left internal mammary artery graft, during which both fistulas were ligated. No complications were encountered postoperatively.

  13. Biocompatibility of Coronary Stents

    Directory of Open Access Journals (Sweden)

    Thamarasee M. Jeewandara

    2014-01-01

    Full Text Available Cardiovascular disease is the dominant cause of mortality in developed countries, with coronary artery disease (CAD a predominant contributor. The development of stents to treat CAD was a significant innovation, facilitating effective percutaneous coronary revascularization. Coronary stents have evolved from bare metal compositions, to incorporate advances in pharmacological therapy in what are now known as drug eluting stents (DES. Deployment of a stent overcomes some limitations of balloon angioplasty alone, but provides an acute stimulus for thrombus formation and promotes neointimal hyperplasia. First generation DES effectively reduced in-stent restenosis, but profoundly delay healing and are susceptible to late stent thrombosis, leading to significant clinical complications in the long term. This review characterizes the development of coronary stents, detailing the incremental improvements, which aim to attenuate the major clinical complications of thrombosis and restenosis. Despite these enhancements, coronary stents remain fundamentally incompatible with the vasculature, an issue which has largely gone unaddressed. We highlight the latest modifications and research directions that promise to more holistically design coronary implants that are truly biocompatible.

  14. Congenital syphilis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don [Chosun University College of Medicine, Kwangju (Korea, Republic of)

    1983-12-15

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  15. Congenital hypoaldosteronism.

    Science.gov (United States)

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

    2008-08-01

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

  16. Giant aneurysm in a left coronary artery fistula

    DEFF Research Database (Denmark)

    Frestad, Daria; Helqvist, Steffen; Helvind, Morten

    2013-01-01

    Congenital coronary artery fistula complicated with giant coronary artery aneurysm is a very rare condition. In this case report, we present a 65-year-old woman, referred to us with a continuous heart murmur, occasional atypical chest pain and few episodes of fainting. A giant aneurysm and a coro......Congenital coronary artery fistula complicated with giant coronary artery aneurysm is a very rare condition. In this case report, we present a 65-year-old woman, referred to us with a continuous heart murmur, occasional atypical chest pain and few episodes of fainting. A giant aneurysm...... and a coronary-pulmonary fistula were diagnosed using multiple cardiovascular imaging modalities to provide a sufficient anatomical picture. The patient was considered at high risk of sudden death from aneurysm rupture and received surgical treatment. Subsequent histopathological examination revealed a true...

  17. [Congenital aortic stenosis].

    Science.gov (United States)

    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.

  18. [Genetics of congenital deafness].

    Science.gov (United States)

    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.

  19. Successful aortic root replacement and shunt closure in a case with rare coexistence of congenital cardiac malformations: bicuspid aortic valve with annuloaortic ectasia, single coronary artery, and patent foramen ovale.

    Science.gov (United States)

    Egashira, Toru; Shimizu, Hideyuki; Yamada, Yoshitake; Fukuda, Keiichi

    2014-10-01

    This is the first report of rare simultaneous complication of three cardiac malformations: bicuspid aortic valve with annuloaortic ectasia, single coronary artery, and patent foramen ovale. We successfully operated to replace the aortic valve and ascending aorta, and to close the patent foramen ovale.

  20. Dextrocardia with situs inversus totalis: coronary artery bypass grafting.

    Science.gov (United States)

    Hashmi, Salila; Anis, Mariam; Darr, Umer

    2012-01-01

    Dextrocardia with situs inversus is a rare congenital abnormality involving a left-handed mal rotation of the visceral organs. The incidence of coronary artery disease is the same as that in the general population. Performing coronary artery bypass surgery on patients with dextrocardia poses a more challenging task. It is recommended that the right internal mammary artery be the first choice of graft for the anterior descending artery for a "situs inversus" situation. We report 2 cases of patients with Dextrocardia who developed coronary artery disease and underwent coronary artery bypass grafting. Also mentioned is the slight difference in our technique.

  1. Symptomatic Type IV Dual Left Anterior Descending Coronary Artery

    Directory of Open Access Journals (Sweden)

    Kyriacos Papadopoulos MD

    2016-12-01

    Full Text Available Dual left anterior descending coronary artery is a rare congenital anomaly with 4 subtypes. Double left anterior descending coronary artery originating from the left main stem and the right coronary artery (type IV dual left anterior descending artery has been reported to occur in 0.01% to 0.7% of patients undergoing cardiac catheterization. We report a case of a 49-year-old woman who was found to have this anomaly during coronary angiography. The patient had been complaining of chest pain that mimics angina pectoris and exercise tolerance test was positive for myocardial ischemia.

  2. Congenital Heart Disease in Adults

    Science.gov (United States)

    ... 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 ...

  3. Incidentally detected right pulmonary artery agenesis with right coronary artery collateralization.

    Science.gov (United States)

    Mikaberidze, Nino; Goldberg, Ythan; Khosraviani, Khashayar; Taub, Cynthia

    2014-01-01

    Unilateral pulmonary artery agenesis (UPAA) with pulmonary hypoplasia is a rare congenital anomaly. We describe a 71-year old male who was incidentally diagnosed with the right UPAA and a hypoplastic right lung supplied by collateralized right coronary.

  4. Congenital pachygyria

    Directory of Open Access Journals (Sweden)

    Jing-xia HU

    2016-02-01

    Full Text Available Objective To investigate the imaging and clinicopathological features of pachygyria limited in the right temporo-parieto-occipital lobe and the key points of its diagnosis and treatment, in order to improve the recognition of this disease.  Methods and Results A 2-year-old boy was admitted to hospital because of paroxysmal loss of consciousness and convulsion for 18 months with progressive aggravation. MRI showed malformations of cortical development in the right temporo-parieto-occipital lobe. Epileptic foci resection on the right temporo-parieto-occipital lobe was made. Histological examination after operation showed uneven thickening of gray matter, shrinking of white matter and disappearing cortical stratification, while a lot of dysmorphic neurons, balloon cells and scattered balloon cells in white matter appeared. Immunohistochemical staining revealed that dysmorphic neurons were positive for non-phosphorylated neurofilament protein SMI-32, microtubule-associated protein-2 (MAP-2 and vimentin (Vim or neurofilament protein (NF. Both dysmorphic neurons and balloon cells expressed phosphorylated ribosomal S6 protein (RPS6, while the former was stronger than the latter. Balloon cells were not positive for MAP-2 or Vim. No disturbance of consciousness or limb twitches occurred in this patient during one-year follow-up.  Conclusions Congenital pachygyria was cortical dysplasia caused by the early proliferation and migration disorder of brain, and should be distinguished with focal cortical dysplasia (FCD type Ⅱ b and tuberous sclerosis complex (TSC. Clinical history, imaging and histological features should be included in the diagnosis. DOI: 10.3969/j.issn.1672-6731.2016.02.005

  5. Congenital platelet function defects

    Science.gov (United States)

    ... storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that ... function, even though there are normal platelet numbers. Most ...

  6. Congenital heart disease

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001114.htm Congenital heart disease To use the sharing features on this page, please enable JavaScript. Congenital heart disease (CHD) is a problem with the heart's structure ...

  7. Autosomal dominant inheritance of left ventricular outflow tract obstruction

    NARCIS (Netherlands)

    Wessels, Marjolein; Berger, Rudolphus; Frohn-Mulder, Ingrid M E; Roos-Hesselink, Jolien W; Hoogeboom, Jeanette J M; Mancini, Grazia S; Bartelings, Margot M; Krijger, Ronald de; Wladimiroff, Jury W; Niermeijer, Martinus F; Grossfeld, Paul; Willems, Patrick J

    2005-01-01

    Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction

  8. [Coronary artery fistulas, a current problem: Clinical and therapeutic considerations].

    Science.gov (United States)

    Tiritilli, A; Iaria, P; Viard, P; Sayah, S; Benali, T; Detienne, J-P; Martis, S; Tchatchum, F; Aouate, P

    2016-02-01

    The coronary fistula is a link between one or more of the coronary arteries and cardiac cavity or great vessel. The exact occurrence is unknown. The majority of these fistulas are congenital in origin. However, they may occasionally be detected after cardiac surgery. For a long time, fistulas are asymptomatic, especially if they are small; the frequency of the symptoms and especially the complications rise with age. The potential complications are: cardiac failure, endocarditis, endarteritis, atrial fibrillation, ventricular arrhythmias, rupture, and thrombosis. The main differential diagnosis is patent arterial duct, while other congenital arteriovenous shunts need to be excluded. Even though echocardiography Doppler can help to differentiate shunts, the coronary angiography remains the main diagnostic tool for the description of the anatomy. For a long time, the surgery was the only therapeutic means, up till now, percutaneous occlusion is the first line therapy of coronary fistulas and that the different devices can be tailored to meet different anatomic and functional characteristics.

  9. Minimally invasive direct coronary artery bypass plus coronary stent for acute coronary syndrome: a case report

    Institute of Scientific and Technical Information of China (English)

    Caiyi Lu; Gang Wang; Qi Zhou; Jinwen Tian; Lei Gao; Shenhua Zhou; Jinyue Zhai; Rui Chen; Zhongren Zhao; Cangqing Gao; Shiwen Wang; Yuxiao Zhang; Ming Yang; Qiao Xue; Cangsong Xiao; Wei Gao; Yang Wu

    2008-01-01

    A 69-year old female patient was admitted because of 3 days of worsened chest pain.Coronary angiography showed60% stenosis of distal left main stem,chronic total occlusion of left anterior descending (LAD),70% stenosis at the ostium of a smallleft circumflex,70-90%stenosis at the paroxysmal and middle part of a dominant fight coronary artery (RCA),and a normal left internalmammary artery (LIMA) with normal origination and orientation.Percutaneous intervention was attempted but failed on the occludedlesion of LAD.The patient received minimally invasive direct coronary artery bypass (MIDCAB) with left LIMA isolation by Davincirobot.Eleven days later,the RCA lesion was treated by Sirolimus Rapamicin eluting stents implantation percutaneously.Then thepatient was discharged uneventfully after 3 days hospitalization.Our experience suggests that two stop shops of hybrid technique befeasible and safe in the treatment of elderly patient with multiple coronary diseases.

  10. Additivity dominance

    Directory of Open Access Journals (Sweden)

    Paul Rozin

    2009-10-01

    Full Text Available Judgments of naturalness of foods tend to be more influenced by the process history of a food, rather than its actual constituents. Two types of processing of a ``natural'' food are to add something or to remove something. We report in this study, based on a large random sample of individuals from six countries (France, Germany, Italy, Switzerland, UK and USA that additives are considered defining features of what makes a food not natural, whereas ``subtractives'' are almost never mentioned. In support of this, skim milk (with major subtraction of fat is rated as more natural than whole milk with a small amount of natural vitamin D added. It is also noted that ``additives'' is a common word, with a synonym reported by a native speaker in 17 of 18 languages, whereas ``subtractive'' is lexicalized in only 1 of the 18 languages. We consider reasons for additivity dominance, relating it to omission bias, feature positive bias, and notions of purity.

  11. Communication between the right and circumflex coronary arteries discovered incidentally by multidetector computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Kwon, Se Hwan; Kim, Eui Jong; Woo, Jong Shin; Kim, Soo Joong; Youn, Hyo Chul; Oh, Joo Hyeong [College of Medicine, Kyung Hee University, Seoul (Korea, Republic of)

    2016-09-15

    Intercoronary communication is a rare congenital coronary anomaly. We present a case of a 48-year-old man with an incidentally discovered communication between the right and circumflex coronary arteries, who was admitted with chest tightness and exertional dyspnea. The initial diagnosis was made using electrocardiogram-gated multidetector computed tomography.

  12. Molecular genetics of congenital nuclear cataract.

    Science.gov (United States)

    Deng, Hao; Yuan, Lamei

    2014-02-01

    A cataract is defined as opacification of the normally transparent crystalline lens. Congenital cataract (CC) is a type of cataract that presents at birth or during early childhood. CC is one of the most common causes of visual impairment or blindness in children worldwide. Approximately 50% of all CC cases may have a genetic cause which is quite heterogeneous. CC occurs in a variety of morphologic configurations, including polar/subcapsular, nuclear, lamellar, sutural, cortical, membranous/capsular and complete. Nuclear cataract refers to the opacification limited to the embryonic and/or fetal nuclei of the lens. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains to be the most common cause. It can be inherited in one of the three patterns: autosomal dominant, autosomal recessive, or X-linked transmission. Autosomal dominant inheritance is the most frequent mode with high penetrance. There may be no obvious correlation between the genotype and phenotype of congenital nuclear cataract. Animal models have been established to study the pathogenesis of congenital nuclear cataract and to identify candidate genes. In this review, we highlight identified genetic mutations that account for congenital nuclear cataract. Our review may be helpful for genetic counseling and prenatal diagnosis.

  13. Anomalous origin of the coronary arteries: an account of six cases.

    Science.gov (United States)

    Dubey, Laxman

    2013-01-01

    Anomalous origin of coronary arteries is a rare type of congenital anomalies with a low incidence. It is considered an incidental finding without clinical significance, however, these abnormalities may be responsible for angina pectoris, heart failure, arrhythmias and increased risk of sudden death. In this paper, six cases that were diagnosed with anomalous origin of coronary arteries confirmed by coronary angiography has been described and also briefly reviewed the literature concerning current views and therapy of this abnormality.

  14. Left Coronary Artery Originated from Right Sinus of Valsalva: Case Report

    Directory of Open Access Journals (Sweden)

    Kemal Karaagac

    2014-08-01

    Full Text Available The %u201Csingle coronary artery%u201D (SCA arises from the aortic root by a single coronary ostium and in the absence of another ostium mostly has an asymptomatic course. Some types of this congenital anomaly may cause various clinical manifestations such as chest pain, sudden death. We present a 50-year-old woman whose coronary angiography for typical chest pain revealed an isolated SCA.

  15. Left Coronary Artery-Pulmonary Artery Fistula in Coronary Artery Disease

    Directory of Open Access Journals (Sweden)

    Orhan Veli Doğan

    2012-08-01

    Full Text Available Coroner artery fistula which is rare and congenital or acquired arise from whole coroner artery drainage all of cardiac chamber and great artery. Although coroner artery fistula is uncommon, it can cause significant mortality and morbidity rates. The article is presented which coroner artery disease and coroner-pulmonary artery fistula was accomplishment committed. Sixty three year-old male patient admitted to the hospital with chest pain. Non-ST myocardial infarction was diagnosed in the examinations. After coroner angiography, it was found coronary artery disease in addition between LAD proximal portion and main pulmonary artery fistula. Fistula repair and coronary bypass were performed successfully under cardiopulmonary bypass. Without hemodynamic problem in intensive care and service follow-up, the patient was discharged from the hospital in the seventh postoperative day. We think that surgical treatment of coronary fistulas in patients with coronary artery lesion is done at the earliest time would enable improvement in mortality and morbidity rates.

  16. Congenital right hemidiaphragmatic agenesis

    OpenAIRE

    Bilal Mirza; Zahid Bashir; Afzal Sheikh

    2012-01-01

    Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right...

  17. Genetics of congenital hypothyroidism

    OpenAIRE

    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 causin...

  18. [Congenital cataract: general review].

    Science.gov (United States)

    Roche, O; Beby, F; Orssaud, C; Dupont Monod, S; Dufier, J L

    2006-04-01

    Cataract is a loss of lens transparency because of a protein alteration. Etiopathogenesis is poorly understood but new mutations of different developmental genes involved are found in 25% of cases. Frequency of onset, particularly when different ocular development anomalies occur, is related to the lens induction phenomena on the eye's anterior segment structure during embryologic development. Genetic transmission is often found on the dominant autosomal mode. Diagnosis is based on a complete and detailed examination of the eye, often with general anaesthesia. This condition predisposes children to later, sometimes serious amblyopia. Different clinical aspects can be observed: from cataract with ocular and/or systemic anomalies to polymalformative syndrome, skeletal, dermatological, neurological, metabolic, and genetic or chromosomal diseases. A general systematic pediatric examination is necessary. Congenital cataract requires first and foremost early diagnosis and a search for all etiologies. Surgical treatment is adapted case by case but it has progressed with the quality of today's intraocular lenses even if systematic implantation continues to be debated. Life-long monitoring is absolutely necessary.

  19. Anomalous Left Main Coronary Artery: Case Series of Different Courses and Literature Review

    Directory of Open Access Journals (Sweden)

    Adam T. Marler

    2013-01-01

    Full Text Available Background. Congenital anomalies of the coronary arteries are a cause of sudden cardiac death. Of the known anatomic variants, anomalous origination of a coronary artery from an opposite sinus of Valsalva (ACAOS remains the main focus of debate. Case Series. We present three cases, all presenting to our facility within one week’s time, of patients with newly discovered anomalous origination of the left coronary artery from the right sinus of Valsalva (L-ACAOS. All patients underwent cardiac computed tomography for evaluation of coronary anatomy along with other forms of functional testing. Despite the high risk nature of two of the anomalies, the patients are being treated medically without recurrence of symptoms. Summary. After review of the literature, we have found that the risk of sudden cardiac death in patients with congenital coronary anomalies, even among variants considered the highest risk, may be overestimated. In addition, the exact prevalence of coronary anomalies in the general population is currently underestimated. A national coronary artery anomaly registry based on cardiac computed tomography and invasive coronary angiography data would be helpful in advancing our understanding of these cardiac peculiarities. The true prevalence of congenital coronary anomalies and overall risk of sudden cardiac death in this population are not well known. Surgical intervention remains the mainstay of therapy in certain patients though recent investigations into the pathophysiology of these abnormalities have shown that the risk of surgery may outweigh the minimal reduction in risk of sudden cardiac death.

  20. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... 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 ...

  1. What Are Congenital Heart Defects?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Are Congenital Heart Defects? Congenital (kon-JEN-ih-tal) heart defects are problems ... carry blood to the heart or the body Congenital heart defects change the normal flow of blood through the ...

  2. Coronary anomaly: the single coronary artery

    Institute of Scientific and Technical Information of China (English)

    QIN Xu-guang; XIONG Wei-guo; LU Chun-peng; GONG Cheng-jie; SHANG Li-hua

    2010-01-01

    @@ Single coronary artery (SCA), defined as an artery that arises from the arterial trunk and nourishes the entire myocardium, is rare. We report two cases of SCA, one is the right coronary artery (RCA) originating from the middle of left descending artery (LAD), and the other is the left main coronary artery (LMCA) arising from the proximal right coronary artery.

  3. Primary percutaneous coronary intervention in a patient with dextrocardia.

    Science.gov (United States)

    Khan, Naveed-Ullah; Farman, Muhammad Tariq; Ashraf, Tariq

    2012-08-01

    The case of a 40-year-old male with dextrocardia who presented with ST Elevated Myocardial Infarction (STEMI) is reported. Coronary angiogram was performed after due manipulation and then successful primary percutaneous coronary intervention (PCI) of Left anterior descending (LAD) coronary artery was done. His 9 months follow up primary PCI in a patient with angiogram revealed patent stent in proximal LAD. There are very few published case reports of this rare congenital anomaly addressing technical details of successful primary PCI with dextrocardia.

  4. Pulmonary artery agenesis associated with coronary collaterals among adults.

    Science.gov (United States)

    Darwazah, Ahmad K; Alhaddad, Imad A

    2016-07-16

    Unilateral agenesis of the pulmonary artery is a rare congenital anomaly, which commonly involves the right side. Cases are associated with systemic collaterals, that may also rarely arise from the coronary arteries.Two adult patients are presented with a right pulmonary artery agenesis associated with collaterals from the right coronary artery. The implications of such an anomaly on pulmonary artery pressure and lung pathology differs among both cases. The association of coronary collaterals is rare and its implication is variable among various patients.

  5. [Acquired coronary-cameral fistula complicated by a ventricular pseudoaneurysm].

    Science.gov (United States)

    Hammami, R; Bosmans, J; Voormolen, M; Vermeulen, T; Salgado, R; Vrints, C

    2013-12-01

    Coronary-cameral fistulas are usually congenital, rarely acquired; the complication of this anomaly with ventricular pseudoaneurysm is exceptional. We report a new case of acquired coronary-cameral fistula, occurred in a patient who had received a bypass graft and who had suffered from angina 1 year after the surgery. On computed tomography coronary angiography, the fistula seems to communicate the first diagonal to a left ventricle pseudoaneurysm. Embolization of the fistula and filling of the pseudoaneurysm by neurocoil were successfully performed. The clinical and angiographic control after 3 months showed symptoms improvement and absence of recanalization of the fistula.

  6. Coronary collaterals

    NARCIS (Netherlands)

    Koerselman, Jeroen

    2004-01-01

    Cardiovascular diseases, in particular coronary artery disease, are the leading cause of death and disease in industrialized countries. Atherosclerotic changes of the arterial vessel wall constitute one of the major causes for the occurrence of cardiovascular disease. Important risk factors for

  7. Coronary collaterals

    NARCIS (Netherlands)

    Koerselman, Jeroen

    2004-01-01

    Cardiovascular diseases, in particular coronary artery disease, are the leading cause of death and disease in industrialized countries. Atherosclerotic changes of the arterial vessel wall constitute one of the major causes for the occurrence of cardiovascular disease. Important risk factors for card

  8. Coronary Arteries in Childhood Heart Disease: Implications for Management of Young Adults

    Science.gov (United States)

    Baraona, Fernando; Valente, Anne Marie; Porayette, Prashob; Pluchinotta, Francesca Romana; Sanders, Stephen P.

    2013-01-01

    Survival of patients with congenital heart defects has improved dramatically. Many will undergo interventional catheter or surgical procedures later in life. Others will develop atherosclerotic or post-surgical coronary heart disease. The coronary artery anatomy in patients with congenital heart disease differs substantially from that seen in the structurally normal heart. This has implications for diagnostic procedures as well as interventions. The unique epicardial course seen in some defects could impair interpretation of coronary angiograms. Interventional procedures, especially at the base of the heart, risk injuring unusually placed coronary arteries so that coronary artery anatomy must be delineated thoroughly prior to the procedure. In this review, we will describe the variants of coronary artery anatomy and their implications for interventional and surgical treatment and for sudden death during late follow-up in several types of congenital heart defects including: tetralogy of Fallot, truncus arteriosus, transposition of the great arteries, double outlet right ventricle, congenitally corrected transposition of the great arteries and defects with functionally one ventricle. We will also discuss the coronary abnormalities seen in Kawasaki disease. PMID:24294539

  9. Coronary artery to left ventricle fistula

    Directory of Open Access Journals (Sweden)

    Kumar Vivek

    2005-11-01

    Full Text Available Abstract Background Coronary cameral fistulas are an uncommon entity, the etiology of which may be congenital or traumatic. They involve abnormal termination of a coronary artery, usually the right coronary, into a cardiac chamber, usually the right ventricle. Case Presentation We describe a case of female patient with severe aortic stenosis and interventricular septal hypertrophy that underwent bioprosthetic aortic valve replacement with concomitant septal myectomy. On subsequent follow-up an abnormal flow traversing the septum into the left ventricle was identified and Doppler interrogation demonstrated a continuous flow, with a predominantly diastolic component, consistent with coronary arterial flow. Conclusion The literature on coronary cameral fistulas is reviewed and the etiology of the diagnostic findings discussed. In our patient, a coronary artery to left ventricle fistula was the most likely explanation secondary to trauma to the septal perforator artery during myectomy. Since the patient was asymptomatic at the time of diagnosis no intervention was recommended and has done well on follow-up.

  10. Congenital Insensitivity to Pain

    Directory of Open Access Journals (Sweden)

    Praveen Kumar B,

    2011-01-01

    Full Text Available Congenital Insensitivity to Pain belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN. It is a rare disorder of unknown etiology associated with loss of pain sensation. Cognition and sensation is otherwise normal and there is no detectable physical abnormality. We report a case of Congenital Insensitivity to Pain in a 3 year old female child.

  11. Multifocal Congenital Hemangiopericytoma.

    Science.gov (United States)

    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.

  12. Key aspects congenital infection

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2014-01-01

    Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

  13. Domination, Eternal Domination, and Clique Covering

    Directory of Open Access Journals (Sweden)

    Klostermeyer William F.

    2015-05-01

    Full Text Available Eternal and m-eternal domination are concerned with using mobile guards to protect a graph against infinite sequences of attacks at vertices. Eternal domination allows one guard to move per attack, whereas more than one guard may move per attack in the m-eternal domination model. Inequality chains consisting of the domination, eternal domination, m-eternal domination, independence, and clique covering numbers of graph are explored in this paper.

  14. Anomalous origin of the left coronary artery from the pulmonary artery in children: diagnostic use of multidetector computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Shen, Quanli; Yao, Qiong; Hu, Xihong [Children' s Hospital of Fudan University, Department of Radiology, Shanghai (China)

    2016-09-15

    Anomalous origin of the left coronary artery from the pulmonary artery is a rare congenital anomaly. It is important to demonstrate the anomalous origin of the left coronary artery and its course before surgery. To explore the clinical diagnostic use of multidetector CT coronary angiography in detecting anomalous origin of the left coronary artery from the pulmonary artery in children. Nine children (2 boys, 7 girls) ages 2 months to 9 years with surgically confirmed anomalous origin of the left coronary artery from the pulmonary artery were studied. Clinical data, transthoracic echocardiography and CT coronary angiography images were retrospectively analyzed. Transthoracic echocardiography correctly diagnosed anomalous origin of the left coronary artery from the pulmonary artery in 7 of 9 patients (95% CI: 40-97%). CT coronary angiography revealed the anomalous origin of the left coronary artery in all children (95% CI: 66-100%). In a 4-year-old girl and a 9-year-old girl, CT coronary angiography showed dilation of the right coronary artery and collateral circulation between the right and the left coronary arteries. CT coronary angiography is a useful method to show the anomalous origin of the coronary artery in children with anomalous origin of the left coronary artery from the pulmonary artery, especially for patients in whom origin of the left coronary artery cannot be detected by transthoracic echocardiography. (orig.)

  15. Cannabis, Collaterals, and Coronary Occlusion

    Directory of Open Access Journals (Sweden)

    Kalpa De Silva

    2011-01-01

    Full Text Available A 51-year-old gentleman, who regularly smoked cannabis, presented with chest pain and diaphoresis. He was haemodynamically stable. ECG showed ST depression, inferiorly, and 1 mm ST elevation in lead aVR. Emergent coronary angiography showed thrombotic occlusion of the left main coronary artery (LMCA, the dominant RCA provided Rentrop grade II collaterals to the LAD. The LMCA was successfully reopened by deployment of a bare-metal stent. Animal heart models suggest that endogenous cannibinoids may cause ischaemic preconditioning. This case suggests that the severity of ischaemia, and hence ECG changes and haemodynamic consequences following an acute occlusion of the LMCA, can be ameliorated by coronary collateralisation and possibly by preconditioning of the myocardium.

  16. Practical stepwise approach to rhythm disturbances in congenital heart diseases

    OpenAIRE

    Huh, June

    2010-01-01

    Patients with congenital heart diseases (CHD) are confronted with early- and late-onset complications, such as conduction disorders, arrhythmias, myocardial dysfunction, altered coronary flow, and ischemia, throughout their lifetime despite successful hemodynamic and/or anatomical correction. Rhythm disturbance is a well-known and increasingly frequent cause of morbidity and mortality in patients with CHD. Predisposing factors to rhythm disturbances include underlying cardiac defects, hemodyn...

  17. Campomelic dysplasia: a rare cause of congenital spinal deformity.

    Science.gov (United States)

    Dahdaleh, Nader S; Albert, Gregory W; Hasan, David M

    2010-05-01

    Campomelic dysplasia is a rare autosomal dominant syndrome that often results in congenital spinal deformity. As a result of improvements in respiratory care, some patients survive into childhood, requiring treatment of their spinal deformities. We present a neonate who was diagnosed with campomelic dysplasia, resulting in severe cervical and thoracic kyphoscoliosis and respiratory compromise. A review of the literature and reported treatment options are discussed. Campomelic dysplasia is a rare cause of congenital spinal deformity; however, intervention may be appropriate in certain patients.

  18. Familial isolated congenital asplenia: case report and literature review.

    Science.gov (United States)

    Ahmed, Syed Ather; Zengeya, Stanley; Kini, Usha; Pollard, Andrew J

    2010-03-01

    Congenital asplenia is a rare life-threatening condition, often presenting with pneumococcal sepsis. It may arise as part of situs abnormalities or result from an unrelated specific defect of spleen development. The mode of inheritance is usually autosomal dominant, though sporadic cases are also reported. In affected individuals, the use of appropriate antibiotic prophylaxis and immunisations could save lives. In our report, we describe a family of three siblings with isolated congenital asplenia and unaffected parents, suggestive of recessive inheritance. The diagnosis in the proband was made post mortem following overwhelming pneumococcal sepsis. We also review the literature and compare the eight families previously reported with congenital isolated asplenia.

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

    Science.gov (United States)

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

    2016-04-01

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

  20. Congenital short pancreas

    Institute of Scientific and Technical Information of China (English)

    DU Juan; XU Guo-qiang; XU Ping; JIN En-yun; LIU Qiong; LI You-ming

    2007-01-01

    @@ Congenital short pancreas, also known as partial agenesis or hypoplasia of the dorsal pancreas1 is a rare congenital abnormality consisting of the parenchyma and ductal system restricted to the head with some residual dorsal tapering and arborizing ducts communicating with the minor papill.2 Complete pancreatic agenesis is fatal, and only nine possible examples of partial agenesis have been previously reported in adults in the literature.3-10 Three of them were polysplenia syndrome associated with short pancreas,and only six patients with congenital short pancreas with normal situs. Here we present a new case associated with steatorrhoea.

  1. Congenital symmastia revisited

    DEFF Research Database (Denmark)

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik

    2012-01-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

  2. 先天性膜性白内障一家系致病基因的遗传分析%Mutation of 22q11.2-q12.1 gene in a family with autosomal dominant congenital membranous cataract

    Institute of Scientific and Technical Information of China (English)

    袁芳; 李飞峰; 刘伟; 刘华; 季健; 马旭

    2009-01-01

    目的 分析一个先天性白内障家系的遗传规律,对其突变基因进行初步研究.方法 选取一先天性膜性白内障家系,对家系成员进行临床检查并采集静脉血.标准饱和酚/氯仿抽提法提取DNA,选取多态性微卫星遗传标记,合成引物,聚合酶链反应,聚丙烯酰胺凝胶电泳,基因分型,等位基因共享分析法对已知候选基因进行排除性定位.结果 该家系为常染色体显性遗传性先天性白内障家系.其致病基因与D22S315联系紧密,重组发生在以D22S303和D22S1167为上下边界的范围内.对该范围内已知的先天性白内障致病基因CRYBB1、CRYBB2、CRYBB3、CRYBA4进行DNA直接测序,未发现突变.结论 该家系致病基因定位于22q11.2~q12.1的2.4 Mbp范围内,其致病基因与已知基因座不同.该范围内可能存在导致先天性膜性白内障的新的致病基因.%Objective Autosomal dominant congenital cataract (ADCC) is a common heredit disease.Some known genes and mutated loci related to ADCC have been found.The present study provides other disease-causing genes in the ADCC family.This study was to identify the genetic defect in four generations of a Chinese family with autosomal dominant congenital membranous cataracts and demonstrate the functional analysis of a candidate gene in the family.MethodsThe family with hereditary cataract was recruited from the Tianjin Medical University Eye Center.The family history was collected and recorded.Clinical and ophthalmologic examinations were performed on 6 affected and 14 unaffected family members and periphery blood samples were collected from all of the subjects for genomic DNA preparation.The members were genotyped with microsatellite markers at loci associated with cataracts.Multiplex polymerase chain reaction (PCR) was carried out with microsatellite markers near to candidated loci related to congenital cataracts.PCR products from each DNA sample were separated on a polyarcylamide gel and

  3. Catastrophic myocardial ischemia resulting from a left coronary artery anomaly with an origin in the right sinus of Valsalva.

    Science.gov (United States)

    Takazawa, Ippei; Kawahito, Koji; Sugaya, Akira; Yokota, Ayako; Hoshide, Satoshi; Kario, Kazuomi; Misawa, Yoshio

    2016-06-01

    A congenital left coronary artery anomaly originating from the right aortic sinus is a rare congenital defect associated with the risk of sudden death in young individuals. In most cases, the proximal portion of the anomalous left coronary artery exists between the ascending aorta and pulmonary trunk, and it has an intramural aortic course; this could critically impair the left coronary flow owing to compression of the anomalous left main trunk between the great vessels during exercise. Herein, we report a 14-year-old boy who experienced cardiac collapse due to an acute myocardial infarction after long-distance running. After resuscitation using percutaneous cardiopulmonary support, computed tomography and coronary angiography revealed an anomalous origin of the left main coronary artery in the right sinus of Valsalva and a proximal course between the aorta and pulmonary trunk. The patient was successfully treated using an unroofing procedure of the intramural left coronary artery.

  4. A CADAVERIC STUDY ON CORONARY PREPONDERANCE

    Directory of Open Access Journals (Sweden)

    Vinitha G

    2015-09-01

    Full Text Available Background: Knowledge of coronary preponderance is important to understand coronary artery diseases, interpret the findings and plan the treatment of cardiovascular diseases. It influences the amount and anatomic location of myocardium that is perfused by the left or right coronary circulation. The aim of the present study is to observe the origin of posterior interventricular artery which determines the coronary preponderance or dominance. Materials and Methods: The study was done on 50 formalin fixed adult heart specimens in the Department of Anatomy, Bangalore Medical College and Research Institute irrespective of age, sex, socio-economic status, religion and education status. The coronary arteries were examined by gross dissection and analyzed statistically. Results: Right preponderance was seen in 31(62% hearts, left preponderance in 11 (22% hearts and balanced or codominance was seen in 8(16% hearts. Discussion: The coronary artery dominance has an important clinical significance.Most of the studies have reported a higher percentage of right preponderance including the present study. Results of the present study was compared statistically with the study done by Hirak Das et al (n=70. On comparison right dominance was statistically insignificant ( z = 0.91, p = 0.36 , left dominance was statistically insignificant ( z = 0.46 , p = 0.64 ,and balanced pattern was also statistically insignificant ( z = 0.82 , p = 0.41 Conclusion: The present study on coronary dominance would be of use to the cardiologist and interventional radiologist to predefine the abnormalities by invasive and non invasive studies.

  5. Genetics Home Reference: Leber congenital amaurosis

    Science.gov (United States)

    ... amaurosis, Leber congenital congenital amaurosis of retinal origin congenital retinal blindness CRB dysgenesis neuroepithelialis retinae hereditary epithelial dysplasia of retina hereditary retinal aplasia heredoretinopathia congenitalis LCA ...

  6. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

    Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  7. Congenital Ocular Motor Apraxia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-06-01

    Full Text Available The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls with congenital ocular motor apraxia (COMA are reviewed by researchers at Tottori University, Yonago, Japan.

  8. Congenital Adrenal Hyperplasia

    National Research Council Canada - National Science Library

    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...

  9. Congenital cutis laxa

    Directory of Open Access Journals (Sweden)

    Acharya K

    1996-01-01

    Full Text Available A 16 days old male baby had congenital cutis laxa without family history. He had redundant and lax skin all over the body with slanting of the palpebral fissures medially and broad nasal root.

  10. Congenital lobar emphysema

    Science.gov (United States)

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

    2016-01-01

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

  11. Congenital tracheobiliary fistula.

    NARCIS (Netherlands)

    Croes, F.; Nieuwaal, N.H. van; Heijst, A.F.J. van; Enk, G.J. van

    2010-01-01

    Congenital tracheobiliary fistula is a rare malformation that can present with a variety of respiratory symptoms. We present a case of a newborn patient with a tracheobiliary fistula and severe respiratory insufficiency needing extracorporal membrane oxygenation to recover.

  12. Congenital adrenal hyperplasia

    Science.gov (United States)

    ... to treat congenital adrenal hyperplasia do not usually cause side effects such as obesity or weak bones, because the doses replace the hormones that the child's body cannot make. It is important for parents ...

  13. Sex-linked dominant

    Science.gov (United States)

    Inheritance - sex-linked dominant; Genetics - sex-linked dominant; X-linked dominant; Y-linked dominant ... can be either an autosomal chromosome or a sex chromosome. It also depends on whether the trait ...

  14. CRYAA gene mutation study in a family with autosomal dominant congenital cataract combined with microcornea%常染色体显性遗传核性白内障合并小角膜的CRYAA基因突变研究

    Institute of Scientific and Technical Information of China (English)

    梁小芳; 肖伟; 石磊; 华芮; 张学

    2011-01-01

    Objective To identify the gene mutation in a four-generation Chinese family with autosomal dominant congenital cataract associated with microcornea. Methods Experimental research.Twelve members in this family (including six affected and six unaffected individuals) were enrolled into this study. They underwent full ophthalmological and clinical examinations to rule out any concomitant disorders.Blood samples were collected and genomic DNA was extracted. Microsatellite markers near the reported loci,which are associated with congenital cataract and microcornea were selected and amplified from DNA samples using polymerase chain reaction. Linkage analysis was performed. The exons and exon/intron junction of candidate gene in the related chromosome were sequenced. The product of the first exon was digested by ApaL Ⅰ restriction enzyme to certify the mutation. Results The phenotype studied in this family was nuclear cataract accompanied with microcornea. At markers D21S1885 and D21S1890 near the locus 21q22. 3, the affected members had the same allele, but the unaffected did not. The Lod scores were 2. 11in both markers, indicating that this locus were linked to the congenital cataract in this family. DNA sequencing of candidate gene CRYAA showed a heterozygous mutation c. 34C > T in exon 1, which led to condon 12 in peptide chain encoding arginine substituted by cysteine. ApaL Ⅰ enzyme digestion certified that all of the affected members had the same mutation c. 34C >T, but the unaffected and normal individuals did not. Conclusion Mutation (p. R12C) of CRYAA is the genetic change that causes the occurrence of congenital cataract with microcornea in this family.%目的 研究一个4代常染色体显性遗传先天性核性白内障伴小角膜家系的致病基因.方法 实验研究.对12例家系成员(6例患者,6例非患者)进行眼部检查并采集静脉血,提取基因组DNA.在已知的与先天性白内障伴小角膜相关致病基因附近选择微

  15. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen

    2015-01-01

    Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

  16. Rare case of coronary to pulmonary vein fistula with coronary steal phenomenon

    Institute of Scientific and Technical Information of China (English)

    Emad; A; Barsoum; Faisal; B; Saiful; Deepak; Asti; Rewais; Morcus; Georges; Khoueiry; James; Lafferty; Donald; A; McCord

    2014-01-01

    Coronary artery fistulas are abnormal connections between coronary artery territories and cardiac chambers or major vessels,most of them are congenital.Patients with coronary artery fistula can be asymptomatic or present with different symptoms like angina.Cardiac computed tomography(CT)is one of the best modalities for diagnosis.We present an elderly patient that presented with angina symptoms,non invasive stress test was positive for ischemic heart disease,coronary angiogram could not reveal any obstructive lesions,but an abnormal branch of the left descending coronary artery(LAD),cardiac CT showed fistula that connect left anterior descending coronary artery to left superior pulmonary vein.Our case is extremely rare as most of the reported cases were fistulas between LAD and pulmonary artery,but in our case the fistula between LAD and left superior pulmonary vein.In addition,our patients’symptoms resolved with anti-ischemic medical treatment without any surgical intervention.

  17. Presentation of Anomalous Origin of the Left Coronary Artery From the Pulmonary Artery with Left Sided Coronary Ostium in an Adult Patient

    Directory of Open Access Journals (Sweden)

    Z Ojaghi Haghighi

    2009-06-01

    Full Text Available An anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA is a rare congenital coronary anomaly. It usually presents in infancy with intractable left sided heart failure. Most patients die in infancy, but survival into adulthood is possible. Patients may complain of dyspnea, syncope or effort angina. They may remain asymptomatic; or experience sudden death after exercise. A 56-year-old woman presented with a twomonth history of exertional chest discomfort. Echocardiography showed a coronary anomaly with preserved systolic function and no resting regional wall motion abnormality. The coronary and CT (computed tomography angiography studies revealed the anomalous origin of the left coronary artery. A review of ALCAPAstudies is presented along with images from the echocardiogram, coronary angiogram and CT scan performed for this case.

  18. Stenting of unprotected left main coronary artery in a patient with cardiogenic shock

    Directory of Open Access Journals (Sweden)

    Bedson José Lopes de Sá

    1999-09-01

    Full Text Available A 64-year-old female presented with pulmonary edema and cardiogenic shock after coronary arteriography that showed severe suboclusive lesion in the left main coronary artery (LMCA in a dominant left coronary system. The patient succesfully underwent urgent angioplasty with stent deployment in the LMCA. After an uneventful period, the patient was discharged at day six.

  19. Doppler findings in a rare Coronary Artery Fistula

    Directory of Open Access Journals (Sweden)

    Jorns Carl

    2007-03-01

    Full Text Available Abstract One of the primary forms of congenital anomalies of the coronary arteries is coronary artery fistula (CAF. It is defined as a direct communication between the coronary artery and any surrounding cardiac chamber or vascular structure, which bypasses the myocardial capillary bed. We present a newborn baby with a large coronary artery fistula connecting the left anterior descending (LAD artery to the left ventricular (LV apex. Associated cardiac abnormalities were found: a ventricular septal defect (diameter 4 mm, a patent foramen ovale as well as trivial tricuspid and mitral regurgitation. Here we demonstrate the echocardiograms of an extremely rare form of CAF diagnosed within the first days of postnatal life.

  20. Coronary artery anomalies: prevalence and clinical profile in elderly patients

    Institute of Scientific and Technical Information of China (English)

    Gianluca Rigatelli; Giorgio Rigatelli; Mario Trivellato

    2004-01-01

    Objective Although congenital heart diseases are uncommon in the elderly, coronary artery anomalies may be incidentally discovered in old age. We sought to determine the incidence and clinical features of coronary artery anomalies (CAAs) in patients over 65 years of age. Patients and methods Medical records of patients undergoing coronary artery angiography in the years 1997-2002 at the Legnago General Hospital were retrospectively reviewed, The clinical profiles of all patients with CAAs and CAA subtypes were noted. Comparison between patients under and over 65 was performed. Data are given as mean standard deviation and as percentages. Results Sixtysix patients (1.21%, Female/Male 22/44, mean age 65.3 ± 10.6 years) out of the 5450 who underwent coronary angiography in the years 1997-2002 had CAAs. In mast cases (63%, 41/66 patients), the patients were over 65.CAAs were discovered incidentally in these elderly patients while undergoing coronary artery angiography for dilated cardiomyopathy, ischemic heart disease, and valvular heart disease in 75% of the cases (30/41 patients). Patients over 65 had more cardiac comorbidities and .a higher incidence of coronary atherosclerosis. Conclusions The angiographic incidence of CAAs in elderly patients is increasing as the population ages and this occurrence calls for a wider knowledge of the anatomy and pathophysiology of CAAs among geriatric cardiologists. Elderly patients seem to present with lower risk coronary anomalies (separated origin of left anterior descending coronary artery and circanfflex artery, origin of circumflex artery from the right sinus or the right coronary artery, double coronary artery)but have a higher risk profile compared to younger patients due to the frequency of cardiac comorbidities and superimposed coronary artery atherosclerosis.

  1. New Anti-Thrombotic Drugs in Acute Coronary Syndromes and Percutaneous Coronary Intervention. The Role of Prasugrel, Ticagrelor and Cangrelor

    National Research Council Canada - National Science Library

    Constantinos Stratos; Alexandros Kouloubinis

    2012-01-01

      Platelet activation and subsequent aggregation play a dominant role in the propagation of arterial thrombosis and consequently are the key therapeutic targets in the management of acute coronary syndrome (ACS...

  2. The genetic and molecular basis of congenital cataract

    Directory of Open Access Journals (Sweden)

    Alessandro Santana

    2011-04-01

    Full Text Available Congenital cataracts are one of the most treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1 to 6 cases per 10,000 live births. Approximately fifty percent of all congenital cataract cases may have a genetic 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 the fiber cells and the homeostasis of the lens proteins in terms of their concentration, stability, and supramolecular organization. Research on hereditary congenital cataract led to the identification of several classes of candidate genes that encode proteins such crystallins, lens specific connexins, aquaporine, cytoskeletal structural proteins, and developmental regulators. The purpose of this study was to review the literature on the recent advances made in understanding the molecular genetic basis of congenital cataracts.

  3. Adults with Congenital Heart Defects

    Science.gov (United States)

    ... Disease Venous Thromboembolism Aortic Aneurysm More Web Booklet: Adults With Congenital Heart Defects Updated:Aug 29,2017 ... the list below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: Adults with ...

  4. Congenital tracheobronchial stenosis.

    Science.gov (United States)

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

    2016-06-01

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

  5. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  6. Congenital Syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-06-01

    Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

  7. Congenital right hemidiaphragmatic agenesis

    Directory of Open Access Journals (Sweden)

    Bilal Mirza

    2012-01-01

    Full Text Available Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right hemidiaphragm. The diaphragm was absent on anterior and lateral aspects of the chest wall and only a small rim of diaphragm was present on posterior aspect. The defect was identified as agenesis of right hemidiaphragm and successfully managed by suturing the posterior rim of diaphragm to the intercostal muscles and ribs. This report describes successful management of hemidiaphragmatic agenesis without incorporating a prosthetic material.

  8. Congenital right hemidiaphragmatic agenesis.

    Science.gov (United States)

    Mirza, Bilal; Bashir, Zahid; Sheikh, Afzal

    2012-01-01

    Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right hemidiaphragm. The diaphragm was absent on anterior and lateral aspects of the chest wall and only a small rim of diaphragm was present on posterior aspect. The defect was identified as agenesis of right hemidiaphragm and successfully managed by suturing the posterior rim of diaphragm to the intercostal muscles and ribs. This report describes successful management of hemidiaphragmatic agenesis without incorporating a prosthetic material.

  9. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft;

    2001-01-01

    Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

  10. Congenital Cataract Screening

    Science.gov (United States)

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  11. Congenital Heart Defects (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Congenital Heart Defects KidsHealth > For Parents > Congenital Heart Defects A A A What's in this article? How ... a Problem en español Anomalías cardíacas congénitas A congenital heart defect is a problem in the heart's structure that ...

  12. Congenital Abdominal Wall Defects

    DEFF Research Database (Denmark)

    Risby, Kirsten; Jakobsen, Marianne Skytte; Qvist, Niels

    2016-01-01

    complications were seen in five (15%) children: four had detachment of the mesh and one patient developed abdominal compartment syndrome. Mesh related clinical infection was observed in five children. In hospital mortality occurred in four cases (2 gastroschisis and 2 omphalocele) and was not procedure......OBJECTIVE: To evaluate the clinical utility of GORE® DUALMESH (GDM) in the staged closure of large congenital abdominal wall defects. MATERIALS AND METHODS: Data of patients with congenital abdominal wall defects managed with GDM was analyzed for outcome regarding complete fascial closure; mesh...

  13. Congenital Toxoplasmosis: A Review.

    Science.gov (United States)

    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.

  14. Congenital preduodenal portal vein

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Jin; Hwang, Mi Soo; Huh, Young Soo; Park, Bok Hwan [College of Medicine, Youngnam University, Gyeongsan (Korea, Republic of)

    1991-03-15

    Congenital preduodenal portal vein, first reported by Knight in 1921, is an extremely rare congenital anomaly in which the portal vein passes anteriorly to the duodenum rather than posteriorly in its normal location. It is of surgical significance because it may cause difficulties in operations involving the gall bladder, biliary duct, or duodenum. Recently, we experienced 2 cases of preduodenal portal vein. One was found during surgical exploration for the diagnosis and correction of malrotation of the bowels and the other in a 3 day-old male newborn associated with dextrocardia, situs inversus, and duodenal obstruction by diaphragm. We report these 2 cases with a review of the literature.

  15. Congenital laryngeal anomalies,

    Directory of Open Access Journals (Sweden)

    Michael J. Rutter

    2014-12-01

    Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

  16. Right pulmonary artery agenesis and coronary-to-bronchial artery aneurysm.

    Science.gov (United States)

    De Dominicis, Florence; Leborgne, Laurent; Raymond, Alexandre; Berna, Pascal

    2011-03-01

    Isolated unilateral pulmonary artery agenesis is a rare congenital anomaly that may be complicated with hemoptysis, recurrent pulmonary infections or pulmonary hypertension. To our knowledge the occurrence of a coronary syndrome associated with a coronary-to-bronchial artery saccular aneurysmal collateralization has never been described before. A 44-year-old female presented a congenital right pulmonary artery agenesis associated with a hypotrophic and multicystic right lung complicated with recurrent bronchitis. This patient had a coronary syndrome for which the coronary artery imaging showed a coronary-to-bronchial artery collateralization with an aneurysm at this level. It gives rise to a coronary syndrome by coronary steal. Two bronchial collaterals arising from a diaphragmatic artery and the subclavian artery were also found on the computed tomography (CT)-scan. This last collateral also showed another saccular aneurysm. We first performed an embolization of those two aneurysms in order to decrease the risk of hemorrhage and coronary steal, before performing a right pneumonectomy. In this case, the surgery was indicated because of the pathological lung and the risk of postembolization ischaemia. The postoperative course was uneventful and the patient was doing well six months later.

  17. Coronary Arteriovenous Fistula Causing Hydrops Fetalis

    Directory of Open Access Journals (Sweden)

    Nilüfer Çetiner

    2014-01-01

    Full Text Available Fetal heart failure and hydrops fetalis may occur due to systemic arteriovenous fistula because of increased cardiac output. Arteriovenous fistula of the central nervous system, liver, bone or vascular tumors such as sacrococcygeal teratoma were previously reported to be causes of intrauterine heart failure. However, coronary arteriovenous fistula was not reported as a cause of fetal heart failure previously. It is a rare pathology comprising 0.2–0.4% of all congenital heart diseases even during postnatal life. Some may remain asymptomatic for many years and diagnosed by auscultation of a continuous murmur during a routine examination, while a larger fistulous coronary artery opening to a low pressure cardiac chamber may cause ischemia of the affected myocardial region due to steal phenomenon and may present with cardiomyopathy or congestive heart failure during childhood. We herein report a neonate with coronary arteriovenous fistula between the left main coronary artery and the right ventricular apex, who presented with hydrops fetalis during the third trimester of pregnancy.

  18. Pseudoamblyopia in Congenital Cyclotropia

    Directory of Open Access Journals (Sweden)

    Antonio Frattolillo

    2017-01-01

    Full Text Available Purpose. To study the effect of surgery on amblyopia and suppression associated with congenital cyclovertical strabismus. Methods. The fixation pattern was investigated with microperimetry before and soon after surgery in ten consecutive children operated for congenital superior oblique palsy at the S. Martino Hospital, Belluno, Italy, between September 2014 and December 2015. Changes in visual performance in terms of best-corrected visual acuity (BCVA and stereopsis between the day before and one week after surgery were also evaluated. No other amblyopia treatment has been administered during the time study. Results. Surgical correction of the excyclodeviation in congenital SO palsy determined monocular and binocular sensory consequences: monocularly, in the cyclodeviated amblyopic eye, BCVA (0.46–0.03 LogMAR; p<0.0001 and the fixation pattern improved, as demonstrated by microperimetry examination. Binocularly, stereopsis improved or emerged while suppression at the Worth four-dot test disappeared. Conclusions. In the absence of further amblyopic factors such as coexisting constant vertical and/or horizontal deviation and anisometropia, the amblyopia encountered in congenital SO palsy may resolve soon after the surgical alignment. Therefore, it may be considered and defined “pseudoamblyopia.”

  19. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    the complexity in identifying congenital deafblindness. It is concluded that determining deafblindness should not be limited to medical procedures (vision and hearing tests) alone, but may also involve a lengthy process to assess the level of sense functioning the individual possesses....

  20. Congenital Erythropoietic Porphyria (CEP)

    Science.gov (United States)

    ... gov Website: http://www2.niddk.nih.gov/ References JOURNAL ARTICLES Christiansen AL, Aagaard L, Krag A, Rasmussen ... homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic ... a Doctor Clinical Studies Porphyria featured Television and Other Media AIP ...

  1. Congenital cutis laxa

    Directory of Open Access Journals (Sweden)

    Pavithran K

    1992-01-01

    Full Text Available A case of congenital cutis laxa is reported in a male infant. Heavy wrinkles on the forehead, ectropion of the lower eyelids and sagging of the skin of the cheeks and chin gave the appearance of ar, old man. In spite of extensive skin involvement, the general health of the child remained unaffected.

  2. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn

    2015-01-01

    Giant congenital melanocytic nevi (GCMN) occur in 1:20,000 livebirths and are associated with increased risk of malignant transformation. The treatment of GCMN from 1981 to 2010 in a tertiary referral center was reviewed evaluating the modalities used, cosmetic results, associated complications...

  3. Congenital Heart Information Network

    Science.gov (United States)

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

  4. Congenital contractural arachnodactyly.

    Science.gov (United States)

    Bjerkreim, I; Skogland, L B; Trygstad, O

    1976-06-01

    Five cases of congenital contractural arachnodactyly (CCA) are reported. Three belong to the one family. CCA has often been mistaken for Marfan's disease and arthrogrypois multiplex. Because CCA has a more favourable prognosis, it is very important to be able to recognize this syndrome.

  5. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

    970296 Evaluating the degree of pulmonary vascularlesions in congenital heart disease with selective pul-monary angiography. PAN Shiwei(潘世伟), et al.Fuwai Hosp, CAMS & PUMC, Beijing, 100037. Chin JCardiol 1997; 25(1): 39-41. Objective: To evaluate the degree of pulmonary vas-

  6. Congenital Absence of Tibia

    Directory of Open Access Journals (Sweden)

    Sudesh Sharma, Saleem Mir, Vikrant Sharma, Irshad Dar, Rafee

    2002-10-01

    Full Text Available Congenital absence of tibia is a rare anomaly. We repol1 a case who presented at the age of 3 years withabsence of tibia right side with associated anomolies and was managed by reconstruction of the kneeand ankle joints b transfer of fibula

  7. Congenital Lumbar Hernia

    Directory of Open Access Journals (Sweden)

    Sanjay Sharma

    2008-01-01

    Full Text Available Lumbar hernia is a rare hernia. It constitutes less than one percent of all abdominal hernias. It can becongenital or acquired. Acquired can occur either spontaneously or after surgery or trauma. Only 300cases of lumbar hernia are reported till date. We report a case of congenital lumbar hernia in one month oldmale baby

  8. Cyanotic congenital heart disease and atherosclerosis.

    Science.gov (United States)

    Tarp, Julie Bjerre; Jensen, Annette Schophuus; Engstrøm, Thomas; Holstein-Rathlou, Niels-Henrik; Søndergaard, Lars

    2017-06-01

    Improved treatment options in paediatric cardiology and congenital heart surgery have resulted in an ageing population of patients with cyanotic congenital heart disease (CCHD). The risk of acquired heart disease such as atherosclerosis increases with age.Previous studies have speculated whether patients with CCHD are protected against atherosclerosis. Results have shown that the coronary arteries of patients with CCHD are free from plaques and stenosis. Decreased carotid intima-media thickness and low total plasma cholesterol may indicate a reduced risk of later development of atherosclerosis. However, the evidence is still sparse and questionable, and a reasonable explanation for the decreased risk of developing atherosclerosis in patients with CCHD is still missing.This review provides an overview of what is known about the prevalence and potential causes of the reduced risk of atherosclerosis in patients with CCHD. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  9. Coronary CT angiography in coronary artery disease: Opportunities and challenges

    Directory of Open Access Journals (Sweden)

    Zhonghua Sun

    2016-06-01

    Full Text Available Coronary CT angiography is widely recognised as a reliable imaging modality for the diagnosis of coronary artery disease. Coronary CT angiography not only provides excellent visualisation of anatomical changes in the coronary artery with high diagnostic value in the detection of lumen stenosis or occlusion, but also offers quantitative characterisation of coronary plaque components. Furthermore, coronary CT angiography allows myocardial perfusion imaging with diagnostic value comparable to the reference standard method. Coronary CT angiography-derived haemodynamic analysis has the potential to evaluate functional significance of coronary lesions. This review article aims to provide an overview of clinical applications of coronary CT angiography in coronary artery disease.

  10. Dominant missense mutations in ABCC9 cause Cantu syndrome

    NARCIS (Netherlands)

    Harakalova, M.; van Harssel, J.J.; Terhal, P.A.; van Lieshout, S.; Duran, K.; Renkens, I.; Amor, D.J.; Wilson, L.C.; Kirk, E.P.; Turner, C.L.; Shears, D.; Garcia-Minaur, S.; Lees, M.M.; Ross, A.; Venselaar, H.; Vriend, G.; Takanari, H.; Rook, M.B.; van der Heyden, M.A.; Asselbergs, F.W.; Breur, H.M.; Swinkels, M.E.; Scurr, I.J.; Smithson, S.F.; Knoers, N.V.; van der Smagt, J.J.; Nijman, I.J.; Kloosterman, W.P.; van Haelst, M.M.; van Haaften, G.; Cuppen, E.

    2012-01-01

    Cantu syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the

  11. Dominant missense mutations in ABCC9 cause Cantu syndrome.

    NARCIS (Netherlands)

    Harakalova, M.; Harssel, J.J. van; Terhal, P.A.; Lieshout, S. van; Duran, K.; Renkens, I.; Amor, D.J.; Wilson, L.C.; Kirk, E.P.; Turner, C.L.; Shears, D.; Garcia-Minaur, S.; Lees, M.M.; Ross, A.; Venselaar, H.; Vriend, G.; Takanari, H.; Rook, M.B.; Heyden, M.A. van der; Asselbergs, F.W.; Breur, H.M.; Swinkels, M.E.; Scurr, I.J.; Smithson, S.F.; Knoers, N.V.A.M.; Smagt, J.J. van der; Nijman, I.J.; Kloosterman, W.P.; Haelst, M.M. van; Haaften, G. van; Cuppen, E.

    2012-01-01

    Cantu syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the

  12. Coronary heart disease

    Science.gov (United States)

    Heart disease, Coronary heart disease, Coronary artery disease; Arteriosclerotic heart disease; CHD; CAD ... slow down or stop. A risk factor for heart disease is something that increases your chance of getting ...

  13. Percutaneous transluminal coronary angioplasty. A review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Przybojewski, J.Z.; Weich, H.F.H. (Tygerberg Hospital, Stellenbosch (South Africa). Dept. of Internal Medicine)

    1984-01-25

    The purpose of this article is to review PTCA, percutaneous transluminal coronary angioplasty, which can be considered to be a truly revolutionary and fairly simple invasive form of intervention to atherosclerotic obstruction. The 'epidemic' of IHD, ischaemic heart disease, in the Republic of South Africa calls for the employment of this technique, which has already been carried out in a few teaching hospitals in this country. Very recently, modified balloon dilatation catheters have been used percutaneously in the non-operative transluminal correction of congenital coarctation of the aorta in infants and children, congenital pulmonary value stenosis, and hypoplasia and stenosis of the pulmonary arteries. It has also been employed for PTCA and for the simultaneous occlusion of coronary-bronchial artery anastomosis using a detachable balloon. The isotopes thallium 201 and technetium 99 were also used in scintiscanning.

  14. Congenitally corrected transposition

    Directory of Open Access Journals (Sweden)

    Debich-Spicer Diane

    2011-05-01

    Full Text Available Abstract Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Incidence has been reported to be around 1/33,000 live births, accounting for approximately 0.05% of congenital heart malformations. Associated malformations may include interventricular communications, obstructions of the outlet from the morphologically left ventricle, and anomalies of the tricuspid valve. The clinical picture and age of onset depend on the associated malformations, with bradycardia, a single loud second heart sound and a heart murmur being the most common manifestations. In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atrioventricular valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents with complete heart block or cardiac failure. The etiology of congenitally corrected transposition is currently unknown, and with an increase in incidence among families with previous cases of congenitally corrected transposition reported. Diagnosis can be made by fetal echocardiography, but is more commonly made postnatally with a combination of clinical signs and echocardiography. The anatomical delineation can be further assessed by magnetic resonance imaging and catheterization. The differential diagnosis is centred on the assessing if the patient is presenting with isolated malformations, or as part of a spectrum. Surgical management consists of repair of the associated malformations, or redirection of the systemic and pulmonary venous return associated with an arterial switch procedure, the so-called double switch approach. Prognosis is defined by the associated malformations, and on the timing and approach to palliative surgical care.

  15. Left coronary to right ventricle fistula in a child: management strategy based on cardiac-gated 64-slice CT

    Energy Technology Data Exchange (ETDEWEB)

    Marini, Davide; Agnoletti, Gabriella; Bonnet, Damien [University Rene Descartes-Paris V, Department of Paediatric Cardiology, Hopital Necker-Enfants Malades, AP-HP, Paris (France); Brunelle, Francis; Ou, Phalla [University Rene Descartes-Paris V, Department of Paediatric Radiology, Hopital Necker-Enfants Malades, AP-HP, Paris (France)

    2008-03-15

    Congenital coronary fistulae are a diagnostic challenge. A prerequisite for best management is accurate anatomical evaluation, traditionally provided by invasive catheter angiography. Multislice CT (MSCT) is an emerging noninvasive technique for coronary artery evaluation. We present a 3-year-old boy and highlight the clinical usefulness of new-generation MSCT to study coronary artery fistulae in children. Multiplanar and 3-D reconstruction offer invaluable information to plan the best therapeutic strategy in this setting. We provide evidence for the expanding clinical role of MSCT for coronary artery imaging in children. (orig.)

  16. Transcatheter coil embolization of multiple coronary artery-to-left ventricle fistulas: report of a rare case

    Institute of Scientific and Technical Information of China (English)

    LI Ruo-gu; JIANG Bei; WU Wei-hua; FANG Wei-yi; SHI Hong-yu; QU Xin-kai; CHEN Hui; QIU Xin-biao; XU Ying-jia; DONG Jia-lin; GUAN Shao-feng

    2008-01-01

    @@ Coronary artery fistula (CAF) is uncommon but remains the most frequent hemodynamically significant congenital coronary artery anomaly,1 The majority of fistula is single and drains into the right heart, only 3.5% into the left ventricle.2 A large fistula requires closure to prevent complications such as myocardial ischemia resulting from coronary steal, congestive heart failure, endocarditis and potential aneurysmal dilatation and rupture.3-5 Here we presented a rare case of CAF with multiple origins involving left anterior descending artery (LAD), left circumflex branch (LCX) and right coronary artery (RCA), and draining into the left ventricle, which was successfully closed by coil embolization.

  17. Coronary heart disease

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008417 Efficacy comparison with low and high dose natroparin for patients with acute coronary syndrome underwent percutancous coronary intervention. SUN Chaoyu(孙超宇), et al. Dept Cardiol, 4th Affili Hosp, Harbin Med Univ, Harbin 150001. Chin J Cardiol 2008;36(6):493-496. Objective To evaluate the safety and optimal piror percutaneous coronary intervention (PCI) natroparin dose in patients with acute coronary syndrome (ACS).

  18. Coronary CTA assessment of coronary anomalies.

    NARCIS (Netherlands)

    Pursnani, A.; Jacobs, J.E.; Saremi, F.; Levisman, J.; Makaryus, A.N.; Capunay, C.; Rogers, I.S.; Wald, C.; Azmoon, S.; Stathopoulos, I.A.; Srichai, M.B.

    2012-01-01

    Coronary anomalies occur in <1% of the general population and can range from a benign incidental finding to the cause of sudden cardiac death. The coronary anomalies are classified here according to the traditional grouping into those of origin and course, intrinsic arterial anatomy, and

  19. Coronary CTA assessment of coronary anomalies.

    NARCIS (Netherlands)

    Pursnani, A.; Jacobs, J.E.; Saremi, F.; Levisman, J.; Makaryus, A.N.; Capunay, C.; Rogers, I.S.; Wald, C.; Azmoon, S.; Stathopoulos, I.A.; Srichai, M.B.

    2012-01-01

    Coronary anomalies occur in <1% of the general population and can range from a benign incidental finding to the cause of sudden cardiac death. The coronary anomalies are classified here according to the traditional grouping into those of origin and course, intrinsic arterial anatomy, and terminat

  20. Congenital absence of the pericardium presenting as acute myocardial necrosis

    Science.gov (United States)

    Brulotte, Steeve; Roy, Louis; Larose, Eric

    2007-01-01

    Congenital absence of the pericardium is a rare defect of which recognition is critical because it can be associated with catastrophic outcomes. While some carriers of this condition may present with a lethal complication, most are asymptomatic, and the defect is found incidentally. The case of a 49-year-old woman is described who presented with acute myocardial necrosis and absence of obstructive coronary artery disease, and in whom a complete left pericardial defect was found. An investigation was undertaken to determine the role of the defect in this patient’s presentation and to recommend the best possible therapy. Finally, a review of literature focusing on congenital absence of the pericardium, as well as a discussion of clinical presentation, imaging techniques and therapeutic options, is also presented. PMID:17876387

  1. Cardiac CT angiography in children with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Siripornpitak, Suvipaporn, E-mail: ssiripornpitak@yahoo.com [Division of Diagnostic Radiology, Department of Diagnostic and Therapeutic Radiology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand); Pornkul, Ratanaporn [Division of Diagnostic Radiology, Department of Diagnostic and Therapeutic Radiology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand); Khowsathit, Pongsak [Pediatric Cardiac Unit, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand); Layangool, Thanarat; Promphan, Worakan [Pediatric Cardiology Unit, Queen Sirikit National Institute of Child Health, Bangkok (Thailand); Pongpanich, Boonchob [Pediatric Cardiac Unit, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand)

    2013-07-15

    Cardiac imaging plays an important role in both congenital and acquired heart diseases. Cardiac computed tomography (angiography) cCT(A) is a non-invasive, increasingly popular, complementary modality to echocardiography in evaluation of congenital heart diseases (CHD) in children. Despite radiation exposure, cCT(A) is now commonly used for evaluation of the complex CHD, giving information of both intra-cardiac and extra-cardiac anatomy, coronary arteries, and vascular structures. This review article will focus on the fundamentals and essentials for performing cCT(A) in children, including radiation dose awareness, basic techniques, and strengths and weaknesses of cCT(A) compared with cardiac magnetic resonance imaging (cMRI), and applications. The limitations of this modality will also be discussed, including the CHD for which cMRI may be substituted.

  2. Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review

    Directory of Open Access Journals (Sweden)

    Bougioukas Ioannis

    2010-08-01

    Full Text Available Abstract Kartagener syndrome consists of congenital bronchiectasis, sinusitis, and total situs inversus in half of the patients. A patient diagnosed with Kartagener syndrome was reffered to our department due to 3-vessel coronary disease. An off-pump coronary artery bypass operation was performed using both internal thoracic arteries and a saphenous vein graft. We performed a literature review for cases with Kartagener syndrome, coronary surgery and dextrocardia. Although a few cases of dextrocardia were found in the literature, no case of Kartagener syndrome was mentioned.

  3. Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review.

    Science.gov (United States)

    Bougioukas, Ioannis; Mikroulis, Dimitrios; Danner, Bernhard; Lawal, Lukman; Eleftheriadis, Savvas; Bougioukas, George; Didilis, Vassilios

    2010-08-26

    Kartagener syndrome consists of congenital bronchiectasis, sinusitis, and total situs inversus in half of the patients. A patient diagnosed with Kartagener syndrome was referred to our department due to 3-vessel coronary disease. An off-pump coronary artery bypass operation was performed using both internal thoracic arteries and a saphenous vein graft. We performed a literature review for cases with Kartagener syndrome, coronary surgery and dextrocardia. Although a few cases of dextrocardia were found in the literature, no case of Kartagener syndrome was mentioned.

  4. Development of bilateral coronary artery aneurysms in a child with Noonan syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Mauro, David M.; Flors, Lucia; Norton, Patrick T.; Hagspiel, Klaus D. [University of Virginia Health System, Department of Radiology and Medical Imaging, Charlottesville, VA (United States); Hoyer, Andrew W. [University of Virginia Health System, Department of Pediatrics, Division of Pediatric Cardiology, Charlottesville, VA (United States); Pediatric Cardiology Center of Oregon, Portland, OR (United States)

    2016-03-15

    Noonan syndrome is a constellation of congenital malformations including heart defects, facial anomalies and short stature. The cardiovascular defects are variable and extensive, with the most common being pulmonary stenosis and hypertrophic cardiomyopathy. Coronary artery anomalies have only been reported in a few cases. We report a child with Noonan syndrome status post pulmonary stenosis and atrial septal defect repair, who developed bilateral coronary artery aneurysms. The aneurysms were diagnosed with both cardiac magnetic resonance imaging and coronary computed tomography angiography. There had been no evidence of them on a cardiac MR exam 5 years previously. (orig.)

  5. Congenital and infantile cataract: aetiology and management.

    Science.gov (United States)

    Chan, Wai H; Biswas, Susmito; Ashworth, Jane L; Lloyd, I Christopher

    2012-04-01

    Congenital cataract is the commonest worldwide cause of lifelong visual loss in children. Although congenital cataracts have a diverse aetiology, in many children, a cause is not identified; however, autosomal dominant inheritance is commonly seen. Early diagnosis either on the post-natal ward or in the community is important because appropriate intervention can result in good levels of visual function. However, visual outcome is largely dependent on the timing of surgery when dense cataracts are present. Good outcomes have been reported in children undergoing surgery before 6 weeks of age in children with unilateral cataract and before 10 weeks of age in bilateral cases. Placement of an artificial intraocular lens implant after removal of the cataract has become established practice in children over 2 years of age. There remains debate over the safety and predictability of intraocular lens implantation in infants. Despite early surgery and aggressive optical rehabilitation, children may still develop deprivation amblyopia, nystagmus, strabismus, and glaucoma. The diagnosis and management of congenital cataracts has improved substantially over the past 30 years with a concurrent improvement in outcomes for affected children. Many aspects of the pre-, intra-, and postoperative management of these patients continue to be refined, highlighting the need for good quality data and prospective collaborative studies in this field.

  6. CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

    Directory of Open Access Journals (Sweden)

    David Neubauer

    2001-07-01

    Full Text Available Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration and endocrinopathy. Men with this disorder have often gonadal atrophy and infertility. On the other hand women are generally fertile. During pregnancy their myopathy worsens, often causing severe obstetrical complications. Their children may develop congenital form of the disease with signs of myopathy in utero and have great difficulties in maintaining life functions after birth, together with other characteristical signs of this form: bilateral facial weakness, severe hypotonia, feeding difficulties, talipes equinovarus and mental retardation. The authors present a female newborn with such congenital form of myotonic dystrophy.Conclusions. The authors have emphasized the importance of medical history, regular updating of all the cases of neuromuscular diseases in the region and clinical characteristics for the recognition of congenital form of myotonic dystrophy because of possible prenatal diagnostics and better antenatal and postantal care.

  7. Congenital Pouch Colon

    Directory of Open Access Journals (Sweden)

    Vivek Gharpure

    2012-07-01

    Full Text Available Face The Examiner:QUESTIONS1. What are the diagnostic features of congenital pouch colon (CPC?Ans: A male patient with CPC often have a wide colovesical fistula and present with anorectal malformation and meconuria; on plain abdominal film, a single large bowel loop occupying more than 50% of the abdominal cavity is also a diagnostic sign. Girls (persistent cloaca/vestibular fistula/anteriorly placed anus etc. often present late with intractable constipation or multiple episodes of enterocolitis and persistent abdominal distension with common cloaca or anterior ectopic anus/ rectovestibular fistula. The congenital pouch colon can be identified as replacement of a part or entire colon in the configuration of pouch that lacks taenia coli, haustrations, appendices epiploicae, abnormal blood supply and a wide fistula with genitourinary system in a patient of anorectal malformation.

  8. Fetal congenital lobar emphysema.

    Science.gov (United States)

    Chia, Chun-Chieh; Huang, Soon-Cen; Liu, Min-Chang; Se, Tung-Yi

    2007-03-01

    To report a rare fetal congenital lung anomaly characterized by over inflation of a pulmonary lobe. A 28-year-old systemic lupus erythematous mother, gravida 1 para 0, who had normal prenatal care in our department, was admitted for labor pain and an abnormal fetal heart location was noted incidentally during labor. The baby showed rib retraction in room air but no obvious cyanotic change after delivery. Both the fetus chest X-ray and ultrasound showed a hyperechogenic tumor in the left thoracic cavity with a right-side-shifted heart and trachea. Computed tomography showed a hypodense and multiseptal tumor in the left thoracic cavity with right-sided shift of the heart and trachea. It was a soft, solid tumor in the parenchyma of the left lung and the histopathology confirmed it to be benign congenital lobar emphysema. The favorable outcome in both asymptomatic and mildly symptomatic children suggests that a nonsurgical approach should be considered for these patients.

  9. Congenital lipodystrophies and dyslipidemias.

    Science.gov (United States)

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

    2014-09-01

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

  10. Congenital intestinal lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Popović Dušan Đ.

    2011-01-01

    Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  11. Congenital hemifacial hyperplasia

    Directory of Open Access Journals (Sweden)

    S A Deshingkar

    2011-01-01

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

  12. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

    2012-01-15

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  13. Congenital alopecia universalis

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    Vicente de Jesús Alvarez Yabor

    2015-11-01

    Full Text Available Congenital alopecia universalis is a type of infrequent recessive autosomal alopecia caused by genetic mutations; it is characterized by the total or localized absence of hair due to any birth disorder. This is a case of a 4-year-old female patient born with total absence of hair, both her scalp and whole body; she received medical treatment without satisfactory results. All the investigations were within normal limits, the differential diagnosis was ruled out through the analysis of family medical history and not showing alterations in bone or teeth structure, as well as normal sweating; the final diagnosis was confirmed through a scalp biopsy that revealed dermis with rudimentary sebaceous glands, immature and scarce hair follicles and corneous plugs compatible with congenital alopecia universalis without associated defects. The patient is treated and followed in dermatology and psychology consultations. The clinical situation has not been resolved to the moment.

  14. STUDY OF CORONARY OSTIA, THEIR VARIATIONS & CLINICAL SIGNIFICANCE

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    Rupa

    2015-10-01

    Full Text Available Anomalies of the coronary ostia are of great practical significance than those of coronary arterial distribution. High degree of association exists between anomalies of the coronary ostia and other congenital cardiovascular defects. Detailed knowledge and awareness of the anatomical variations in ostia of coronary artery and its major blood vessels may help to overcome potential difficulties in certain cardiosurgical procedures. A cadaveric study in an unsuspected population provides a basis for understanding the normal variants, which may facil itate determination of the prevalence of anomalies and evaluation of the value of screening for such anomalies. METHODS: The study was carried out on 30 embalmed hearts in the department of anatomy SAIMS. Numbers of ostia, position of the ostia within each aortic sinus with reference to the sinutubular [ST] ridge and the upper margin of cusps were noted. The height of the cusps and the coronary ostia were measured from the bottom of the aortic sinuses [nad ir] with the help of a digital vernier caliper. Positions of the ostia were also observed with reference to the commissures. RESULTS: The number of Ostia in the various Aortic sinuses ranges from 1to 3. No openings were found in Right Posterior Aortic Sinu s. In majority cases the position of Coronary Ostia is above the Upper margin of cusps (95%. In 80% cases the position of Coronary Ostia is below the Sinu - tubular ridge. In 63% cases ostial openings were centrally located. The Left cusps were found to hav e greater height as compared to Right cusps. The height of Left coronary ostia was at higher level (15.65 mm. CONCLUSION: Variant anatomy of the ostia of the coronary artery, its detailed knowledge and awareness of major blood vessels may help to overcome potential difficulties in certain cardiosurgical procedures.

  15. Congenital scoliosis - Quo vadis?

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    Debnath Ujjwal

    2010-01-01

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

  16. CONGENITAL ANTERIOR TIBIOFEMURAL SUBLUXATION

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    A. Shahla

    2008-06-01

    Full Text Available Congenital anterior tibiofemoral subluxation is an extremely rare disorder. All reported cases accompanied by other abnormalities and syndromes. A 16-year-old high school girl referred to us with bilateral anterior tibiofemoral subluxation as the knees were extended and reduced at more than 30 degrees flexion. Deformities were due to tightness of the iliotibial band and biceps femuris muscles and corrected by surgical release. Associated disorders included bilateral anterior shoulders dislocation, short metacarpals and metatarsals, and right calcaneuvalgus deformity.

  17. Topics on domination

    CERN Document Server

    Hedetniemi, ST

    1991-01-01

    The contributions in this volume are divided into three sections: theoretical, new models and algorithmic. The first section focuses on properties of the standard domination number &ggr;(G), the second section is concerned with new variations on the domination theme, and the third is primarily concerned with finding classes of graphs for which the domination number (and several other domination-related parameters) can be computed in polynomial time.

  18. Dominance in domestic dogs

    NARCIS (Netherlands)

    Borg, Van Der J.A.M.; Schilder, M.B.H.; Vinke, C.M.; Vries, De Han; Petit, Odile

    2015-01-01

    A dominance hierarchy is an important feature of the social organisation of group living animals. Although formal and/or agonistic dominance has been found in captive wolves and free-ranging dogs, applicability of the dominance concept in domestic dogs is highly debated, and quantitative data are

  19. Total well dominated trees

    DEFF Research Database (Denmark)

    Finbow, Arthur; Frendrup, Allan; Vestergaard, Preben D.

    cardinality then G is a total well dominated graph. In this paper we study composition and decomposition of total well dominated trees. By a reversible process we prove that any total well dominated tree can both be reduced to and constructed from a family of three small trees....

  20. Dominance in domestic dogs

    NARCIS (Netherlands)

    Borg, Van Der J.A.M.; Schilder, M.B.H.; Vinke, C.M.; Vries, De Han; Petit, Odile

    2015-01-01

    A dominance hierarchy is an important feature of the social organisation of group living animals. Although formal and/or agonistic dominance has been found in captive wolves and free-ranging dogs, applicability of the dominance concept in domestic dogs is highly debated, and quantitative data are

  1. Dominating Sets and Domination Polynomials of Paths

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    Saeid Alikhani

    2009-01-01

    Full Text Available Let G=(V,E be a simple graph. A set S⊆V is a dominating set of G, if every vertex in V\\S is adjacent to at least one vertex in S. Let 𝒫ni be the family of all dominating sets of a path Pn with cardinality i, and let d(Pn,j=|𝒫nj|. In this paper, we construct 𝒫ni, and obtain a recursive formula for d(Pn,i. Using this recursive formula, we consider the polynomial D(Pn,x=∑i=⌈n/3⌉nd(Pn,ixi, which we call domination polynomial of paths and obtain some properties of this polynomial.

  2. Congenital syphilis, still a reality.

    Science.gov (United States)

    Gupta, Rajat; Vora, Rita V

    2013-01-01

    Congenital syphilis is a potentially serious pathology affecting newborns of infected mothers. Even one case of congenital syphilis is a sentinel public health event, since timely diagnosis and treatment of syphilis infected pregnant woman should prevent transmission almost entirely. Here, we are reporting a case of early symptomatic congenital syphilis presented with severe desquamating papulosquamous lesions over multiple body parts along with erosive lesions around oral cavity and nostrils.

  3. Congenital agenesis of seminal vesicle

    Institute of Scientific and Technical Information of China (English)

    Hong-Fei Wu; Di Qiao; Li-Xin Qian; Ning-Hong Song; Ning-Han Feng; Li-Xin Hua; Wei Zhang

    2005-01-01

    Congenital agenesis of the seminal vesicle (CASV) is frequently associated with congenital absence of the vas deferens (CAVD) or ipsilateral congenital vasoureteral communication. We reported two cases of a rare condition that the vas deferens open ectopically into Mullerian duct cyst associated with agenesis of the ipsilateral seminal vesicle. The diagnosis was confirmed by vasography. Transurethral unroofing of the Mullerian duct cyst was performed in both patients with favourable results, however, assisted reproductive technology (ART) was still necessary for them to father children.

  4. Congenital contractural arachnodactyly (Beals syndrome

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    Alanay Yasemin

    2006-06-01

    Full Text Available Abstract Congenital contractural arachnodactyly (Beals syndrome is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS, multiple joint contractures (especially elbow, knee and finger joints, and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in Marfan syndrome. The incidence of CCA is unknown and its prevalence is difficult to estimate considering the overlap in phenotype with MFS; the number of patients reported has increased following the identification of FBN2 mutation. Molecular prenatal diagnosis is possible. Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases. Management of children with CCA is symptomatic. Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains. Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended.

  5. Use of thallium 201 myocardial imaging to exclude myocardial infarction after dissection in congenital coarctation of the aorta

    Energy Technology Data Exchange (ETDEWEB)

    Halon, D.A.; Weiss, A.T.; Tzivoni, D.; Atlan, H.; Gotsman, M.S.

    1981-10-01

    The use of a mobile gamma camera with thallium 201 myocardial imaging is described to exclude myocardial infarction in a patient admitted to the coronary care unit in shock and with clinical, enzyme, and ECG changes consistent with infarction. The patient suffered from acute aortic dissection associated with congenital coarctation of the aorta. The myocardial scan excluded transmural myocardial injury.

  6. Early detection of congenital syphilis

    Directory of Open Access Journals (Sweden)

    Nagalakshmi Chowdhary

    2014-01-01

    Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

  7. [Giant congenital intrapericardial left atrial appendage aneurysm: about a case and review of the literature].

    Science.gov (United States)

    Zhari, Bouchra; Bellamlih, Habib; Boumdine, Hassan; Amil, Touriya; Bamous, Mehdi; En-Nouali, Hassan

    2016-01-01

    Left atrial appendage aneurysm is a very rare heart anomaly. It may be congenital or acquired, secondary to inflammatory or degenerative processes. Most cases are asymptomatic. The prevalence of these lesions in pediatric age has been very rarely reported. As it can cause potentially fatal arrhythmias or thrombus, surgery is required immediately after diagnosis. This study reports the case of a 14-year-old boy with rapidly progressive dyspnea, palpitations, sensation of repetitive dizziness and fainting, in whom congenital left atrial appendage aneurysm was detected. Diagnosis was based on coronary CTA data. The patient was successfully treated with surgical resection of the aneurysm.

  8. Congenital supravalvular aortic stenosis and sudden death associated with anesthesia: what's the mystery?

    Science.gov (United States)

    Burch, Thomas M; McGowan, Francis X; Kussman, Barry D; Powell, Andrew J; DiNardo, James A

    2008-12-01

    Patients with congenital supravalvular aortic stenosis and associated peripheral pulmonary artery stenoses, the majority of whom have Williams-Beuren syndrome, are inherently at risk for development of myocardial ischemia. This is particularly true in the setting of procedural sedation and anesthesia. The biventricular hypertrophy that accompanies these lesions increases myocardial oxygen consumption and compromises oxygen delivery. In addition, these patients often have direct, multifactorial compromise of coronary blood flow. In this article, we review both the pathophysiology of congenital supravalvular aortic stenosis and the literature regarding sudden death in association with sedation and anesthesia. Recommendations as to preoperative assessment and management of these patients are made based on the best available evidence.

  9. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Health Conditions critical congenital heart disease critical congenital heart disease Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Critical congenital heart disease (CCHD) is a term that refers to a ...

  10. Genetics Home Reference: congenital diaphragmatic hernia

    Science.gov (United States)

    ... Home Health Conditions congenital diaphragmatic hernia congenital diaphragmatic hernia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, ...

  11. The coronary heart team.

    Science.gov (United States)

    Yanagawa, Bobby; Puskas, John D; Bhatt, Deepak L; Verma, Subodh

    2017-09-01

    The concept of a Coronary Heart Team has generated increased interest, including support from major practice guidelines. Here, we review the rationale and the published experience of Coronary Heart Teams. A Coronary Heart Team should be led by both cardiology and cardiac surgery with a shared decision-making approach. The team should incorporate data from anatomic and clinical risk prediction models to offer individualized care. Most teams focus on management of complex patients and those with indications for both coronary artery bypass graft and percutaneous coronary intervention. The potential benefits of a Coronary Heart Team include balanced decision-making, greater adherence to evidence-based practice guidelines, as well as promoting greater collegiality and exchange of knowledge between specialties. Single-center series have demonstrated consistency in decision-making by Coronary Heart Teams but prospective data demonstrating improved patient outcomes and/or cost effectiveness are necessary. The concept of a Coronary Heart Team is gaining traction for patients with complex coronary artery disease. There is a growing literature in support of Coronary Heart Teams but comparative and prospective data demonstrating improved patient outcomes are needed.

  12. ACTN1 mutations cause congenital macrothrombocytopenia.

    Science.gov (United States)

    Kunishima, Shinji; Okuno, Yusuke; Yoshida, Kenichi; Shiraishi, Yuichi; Sanada, Masashi; Muramatsu, Hideki; Chiba, Kenichi; Tanaka, Hiroko; Miyazaki, Koji; Sakai, Michio; Ohtake, Masatoshi; Kobayashi, Ryoji; Iguchi, Akihiro; Niimi, Gen; Otsu, Makoto; Takahashi, Yoshiyuki; Miyano, Satoru; Saito, Hidehiko; Kojima, Seiji; Ogawa, Seishi

    2013-03-01

    Congenital macrothrombocytopenia (CMTP) is a heterogeneous group of rare platelet disorders characterized by a congenital reduction of platelet counts and abnormally large platelets, for which CMTP-causing mutations are only found in approximately half the cases. We herein performed whole-exome sequencing and targeted Sanger sequencing to identify mutations that cause CMTP, in which a dominant mode of transmission had been suspected but for which no known responsible mutations have been documented. In 13 Japanese CMTP-affected pedigrees, we identified six (46%) affected by ACTN1 variants cosegregating with CMTP. In the entire cohort, ACNT1 variants accounted for 5.5% of the dominant forms of CMTP cases and represented the fourth most common cause in Japanese individuals. Individuals with ACTN1 variants presented with moderate macrothrombocytopenia with anisocytosis but were either asymptomatic or had only a modest bleeding tendency. ACTN1 encodes α-actinin-1, a member of the actin-crosslinking protein superfamily that participates in the organization of the cytoskeleton. In vitro transfection experiments in Chinese hamster ovary cells demonstrated that altered α-actinin-1 disrupted the normal actin-based cytoskeletal structure. Moreover, transduction of mouse fetal liver-derived megakaryocytes with disease-associated ACTN1 variants caused a disorganized actin-based cytoskeleton in megakaryocytes, resulting in the production of abnormally large proplatelet tips, which were reduced in number. Our findings provide an insight into the pathogenesis of CMTP.

  13. Molecular and Genetic Studies of Congenital Myopathies

    Science.gov (United States)

    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

  14. A case of Fabry's disease with congenital agammaglobulinemia.

    Science.gov (United States)

    Lee, Ki-Yeol; Jeon, Su-Young; Hong, Jin-Woo; Kim, Sung-Eun; Song, Ki-Hoon; Kim, Young-Hun; Kim, Ki-Ho

    2011-07-01

    Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and other tissues. It manifests as progressive multiple organ dysfunctions caused by the deposition of Gb3. On the other hand, congenital agammaglobulinemia is usually caused by mutations in Bruton's tyrosine kinase (Btk) gene with X-linked dominence, suppresses B cell maturation, and causes recurrent pyogenic infections. In former reports, the distance between the loci in the Xq22 region of the human X chromosome was found to be about 69 kilobases. A 23-yr-old man diagnosed with congenital agammaglobulinemia at age 5, showed typical clinical and laboratory and histopathological findings of Fabry's disease. The genetic basis of this combination of the two syndromes was studied in this patient. Here, we report a case of Fabry's disease with congenital agammaglobulinemia.

  15. Coronary Artery Disease

    DEFF Research Database (Denmark)

    Christiansen, Morten Krogh

    2017-01-01

    A family history of coronary artery disease (CAD) is an important risk factor for adverse coronary events, in particular if the disease has an early onset. The risk of CAD is influenced by genetic and environmental factors with a greater genetic contribution earlier in life. Through recent years...... Registry and risk factor control was evaluated. The study revealed that risk factors are common in early-onset CAD and that a large room for risk factor improvement remains. In study II, we used coronary computed tomography angiography to compare the coronary plaque burden and characteristics between 88...... first-degree relatives of patients with early-onset CAD and 88 controls with no familial predisposition. Relatives had a significantly increased coronary plaque burden, which displayed characteristics associated with myocardial ischemia and adverse coronary events. In study III, 134 patients with early...

  16. Living with Coronary Heart Disease

    Science.gov (United States)

    ... from the NHLBI on Twitter. Living With Coronary Heart Disease Coronary heart disease (CHD) can cause serious complications. However, if you ... changes and medicines, go to "How Is Coronary Heart Disease Treated?" Work closely with your doctor to control ...

  17. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  18. Congenital Diaphragmatic Hernia

    Directory of Open Access Journals (Sweden)

    Tovar Juan A

    2012-01-01

    Full Text Available Abstract 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

  19. Congenital erythropoietic porphyria

    Directory of Open Access Journals (Sweden)

    Wen-Hao Lee

    2012-06-01

    Full Text Available Congenital erythropoietic porphyria (CEP, or “Günther disease”, is a rare variant of porphyria. It is an autosomal recessive disease caused by deficient uroporphyrinogen III synthase (URO-III-synthase, the fourth enzyme in the heme biosynthetic pathway. We herein report a case of a man with the typical clinical presentations of hyper- and hypo-pigmentation and blister formation over sun-exposed areas, mutilation of the fingers, dark-purple urine, and erythrodontia with pinkish fluorescence under a Wood’s lamp. The diagnosis was confirmed by decreased activity of URO-III-synthase in red blood cells (RBC and a porphyrin profile compatible with CEP.

  20. Surgery for Congenital Cataract

    Directory of Open Access Journals (Sweden)

    David Yorston FRCS FRCOphth

    2004-01-01

    Full Text Available The management of congenital cataract is very different to the treatment of a routine age-related cataract. In adults, surgery may be delayed for years without affecting the visual outcome. In infants, if the cataract is not removed during the first year of life, the vision will never be fully regained after surgery. In adults, if the aphakia is not corrected immediately, it can be corrected later. In young children, if the aphakia is not corrected, the vision will never develop normally.

  1. Systemic congenital lymphangiomatosis

    Directory of Open Access Journals (Sweden)

    Ligia Maria Suppo de Souza

    Full Text Available Systemic lymphangiomatosis is a rare disease characterized by the exageration of lymphatic channel proliferation, occurring in children and young adults. We describe an extremely rare case of congenital systemic lymphangiomatosis in a newborn who had ascitis and respiratory failure develop immediately after delivery. Death occurred during the first hour of life. Autopsy findings showed numerous cysts in soft tissues of the cervical area, mediastinum and diaphragm, and several other organs including the liver, spleen, thyroid and kidneys. The severe and diffuse involvement with cysts in both lungs by lymphangiomatosis was associated with poor prognosis and death in our case.

  2. Nonclassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Selma Feldman Witchel

    2010-01-01

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

  3. Congenital acute megakaryocytic leukemia

    Directory of Open Access Journals (Sweden)

    N B Mathur

    2011-01-01

    Full Text Available Congenital leukemia (CL is an extremely rare disorder in the newborn, significant proportion of which is of myeloid origin, primarily of M4 or M5 morphology. As compared to pediatric leukemia, CL is a more aggressive disease. Acute myeloid leukemia (AML-M7 or acute megakaryocytic leukemia is a rare type of AML with an incidence of 0.5 per million per year. Median age of presentation is 6 years, and children may present with a broad variety of symptoms including low-grade fever, diarrhea, easy bruising, failure to gain weight and life-threatening conditions.

  4. Congenital granular cell epulis.

    Science.gov (United States)

    Conrad, Rachel; Perez, Mia C N

    2014-01-01

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

  5. Dominance analysis for relation between sleep quality and anxiety and depression emotion in patients with coronary heart disease%冠心病患者睡眠质量与其焦虑抑郁情绪的优势分析

    Institute of Scientific and Technical Information of China (English)

    王丽娜; 周郁秋; 姜秀荣; 杨金伟

    2008-01-01

    Objective To explore the relative importance of factors of sleep quality in predicting the anxiety and depression emotion. Methods Sleep quality and emotional condition of 112 patients with coronary heart disease were investigated with Pittsburgh sleep quality index(PSQI), self-rating anxiety scale (SAS)and self-rating depression scale (SDS). The relation between sleep quality and emotional condition was analyzed deeply by dominance regression analysis. Results After controlling the demographic vari-able of the sex,factors of the sleep quality such as sleep efficiency and function in the daytime had predict-ing effect on depression emotion;factors such as function in the daytime, sleep quality, sleep efficiency and sleep time possessed predicting effect on anxiety emotion. Conclusions According to different contribu-tion of various factors of sleep quality to anxiety and depression emotion, we should implement selective medical and nursing intervention during clinical work.%目的 探讨睡眠质量各项因子在预测焦虑、抑郁情绪中的相对重要性.方法 采用匹兹堡睡眠质量指数量表(PSQI)和焦虑、抑郁自评量表(SAS、SDS)对112例冠心病住院患者进行睡眠质量及情绪状况调查,运用优势回归方法对二者关系进行深入分析.结果 在控制性别人口学变量后,睡眠质量各项因子中,睡眠效率、日间功能对抑郁情绪有预测作用;日间功能、睡眠质量、睡眠效率、睡眠时间对焦虑情绪有预测作用.结论 根据睡眠质量各项因子对焦虑、抑郁情绪的贡献大小,临床工作应实施有针对性的医疗和护理干预.

  6. Congenital neutropenia: diagnosis, molecular bases and patient management

    Directory of Open Access Journals (Sweden)

    Chantelot Christine

    2011-05-01

    Full Text Available Abstract The term congenital neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, severe ( When neutropenia is detected, an attempt should be made to establish the etiology, distinguishing between acquired forms (the most frequent, including post viral neutropenia and auto immune neutropenia and congenital forms that may either be isolated or part of a complex genetic disease. Except for ethnic neutropenia, which is a frequent but mild congenital form, probably with polygenic inheritance, all other forms of congenital neutropenia are extremely rare and have monogenic inheritance, which may be X-linked or autosomal, recessive or dominant. About half the forms of congenital neutropenia with no extra-hematopoetic manifestations and normal adaptive immunity are due to neutrophil elastase (ELANE mutations. Some patients have severe permanent neutropenia and frequent infections early in life, while others have mild intermittent neutropenia. Congenital neutropenia may also be associated with a wide range of organ dysfunctions, as for example in Shwachman-Diamond syndrome (associated with pancreatic insufficiency and glycogen storage disease type Ib (associated with a glycogen storage syndrome. So far, the molecular bases of 12 neutropenic disorders have been identified. Treatment of severe chronic neutropenia should focus on prevention of infections. It includes antimicrobial prophylaxis, generally with trimethoprim-sulfamethoxazole, and also granulocyte-colony-stimulating factor (G-CSF. G-CSF has considerably improved these patients' outlook. It is usually well tolerated, but potential adverse effects include thrombocytopenia, glomerulonephritis, vasculitis and osteoporosis. Long-term treatment with G-CSF, especially at high doses, augments the spontaneous risk of leukemia in patients with congenital neutropenia.

  7. Selective Coronary Arteriography

    Science.gov (United States)

    Parker, John O.; Challis, Thomas W.; West, Roxroy O.

    1966-01-01

    The technique of selective coronary arteriography, as described originally by Sones, was employed in 255 patients. Successful catheterization of both coronary arteries was carried out in 88% of these patients, and in the last 100 examinations both coronary arteries were entered in 95 patients. Selective coronary arteriography is a useful diagnostic tool but is a potentially hazardous form of examination as we encountered four episodes of ventricular fibrillation in the present series. ImagesFig. 1Fig. 2Figs. 3A-DFig. 3EFig. 3FFig. 4Fig. 5Fig. 6Fig. 7Fig. 8Fig. 9 PMID:5902704

  8. A Case of Isolated Coronary Artery Ectasia in the Setting of Chronic Inflamation From human Immunodeficiency Virus Infection.

    Science.gov (United States)

    Heckle, Mark R; Askari, Raza; Morsy, Mohamed; Ibebuogu, Uzoma N

    2016-01-01

    Coronary artery ectasia also known as dilated coronopathy is a relatively rare finding that is most commonly associated with atherosclerosis. Several alternative reasons including congenital malformations and chronic inflammation have been identified as a cause of CAE. In this case, we discuss a 61-year-old male with postoperative chest pain who was found to have localized CAE in the absence of significant atherosclerosis. We also elucidate the recently proposed markers of chronic inflammation that might be associated with coronary artery ectasia.

  9. Congenital nystagmus and negative electroretinography

    Directory of Open Access Journals (Sweden)

    Roussi M

    2011-04-01

    Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: 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.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

  10. Congenital peritoneal encapsulation

    Institute of Scientific and Technical Information of China (English)

    Diana; Teixeira; Vítor; Costa; Paula; Costa; Carlos; Alpoim; Pinto; Correia

    2015-01-01

    Peritoneal encapsulation(PE) is a rare congenital malformation, characterized by a thin accessory peritoneal membrane which covers all or part of the small bowel, forming an accessory peritoneal sac. Most cases areasymptomatic and diagnosed incidentally during surgery and/or autopsy. Clinical presentation with intestinal obstruction is extremely rare and we report a case. A 25-year-old male, referred to emergency department with diffuse abdominal pain, crampy, with 8 h evolution, associated with nausea, vomiting and constipation in the last 48 h. The abdominal examination revealed an asymmetric and fixed distension, with hard consistency on palpation of lower abdominal quadrants. The abdominal radiography reveals a small bowel distension and fluid levels. Submitted to laparoscopic surgery that recourse to conversion because there is a total peritoneal encapsulation of the small bowel. After opening the peritoneal sac, we find a rotation of mesentery, at its root, conditioning twisting of small bowel and consequently occlusion. Uneventful postoperative with discharged at the 6th day. The PE is a very rare congenital anomaly characterized by abnormal bowel back into the abdominal cavity in the early stages of development. Your knowledge becomes important because, although rare, it might be diagnosis in patients with intestinal obstruction, in the absence of other etiologic factors.

  11. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

    2003-09-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  12. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  13. Autosomal dominant lamellar ichthyosis.

    Science.gov (United States)

    Toribio, J; Fernández Redondo, V; Peteiro, C; Zulaica, A; Fabeiro, J M

    1986-08-01

    Five members of two generations of one family were affected with lamellar ichthyosis, suggesting autosomal dominant transmission. The clinical and histopathological characteristics of the cases described here are similar to those reported by Traupe et al. (1984) as autosomal dominant lamellar ichthyosis and thus confirm the existence of this new form of ichthyosis.

  14. Coronary Artery Fistula-Associated Endocarditis: Report of Two Cases and a Review of the Literature.

    Science.gov (United States)

    Wang, Fang; Cranston-D'Amato, Hope; Pearson, Anthony

    2015-12-01

    Coronary artery fistulae (CAF) are rare congenital anomalies and reported to have an incidence of 0.1-0.2% of all coronary angiograms. An association between fistulae and nonatherosclerotic coronary artery aneurysms is even more rare. In childhood, patients are mostly asymptomatic; however, patients older than 20 years old may present with signs of infective endocarditis, myocardial ischemia, congestive heart failure, and aneurysm rupture. CAF are typically identified by coronary angiography; however, there are some limited studies showing that transesophageal echocardiography (TEE) can also be useful in identifying CAF. Here we report two cases of endocarditis secondary to congenital coronary artery fistulae draining into either a cardiac cavity or a coronary sinus, which were detected by TEE. Vegetations were found at the site of the fistulae drainage. Management for young patients is either percutaneous or surgical intervention. For elderly patients with multiple comorbidities, conservative treatment is another option. In these two cases, treating endocarditis with proper antibiotics and supportive treatment, the patients' conditions improved significantly.

  15. Coronary Artery Bypass Surgery

    Science.gov (United States)

    In coronary artery disease (CAD), the arteries that supply blood and oxygen to your heart muscle grow hardened and narrowed. You may try ... these treatments don't help, you may need coronary artery bypass surgery. The surgery creates a new ...

  16. Exercised-Induced Coronary Spasm in Near Normal Coronary Arteries

    Directory of Open Access Journals (Sweden)

    Damian Franzen

    2010-01-01

    Full Text Available In contrast to effort-induced symptoms in obstructive coronary disease, spasm in normal coronary arteries is characterized by angina at rest. We describe a 44-year-old patient with minor coronary plaques and pure exercised-induced coronary spasm. The case questions the differential pathogenic considerations of variant of the variant as opposed to Prinzmetal's variant angina.

  17. Congenital hypothyroidism: current perspectives

    Directory of Open Access Journals (Sweden)

    Dayal D

    2015-07-01

    Full Text Available Devi Dayal, Rajendra Prasad Department of Pediatrics, Pediatric Endocrinology and Diabetes Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India Abstract: Congenital hypothyroidism (CH, the most common pediatric endocrine disorder with an estimated prevalence of 1:2,000 to 1:4,000, is an under-recognized problem in countries without routine newborn screening (NBS programs. Thyroid dysgenesis (TD is the most common cause of primary CH accounting for approximately 85% of all cases; most of the remaining patients have dyshormonogenesis. Transient CH and CH with eutopic gland, are increasingly being identified after introduction of routine NBS. The clinical features of CH are often subtle resulting in delayed diagnosis and eventually poor intellectual outcome. In developed countries, detection by NBS and early initiation of treatment has largely eliminated the intellectual disability caused by this disorder. The lower screening thyroid stimulating hormone (TSH cutoff and changes in birth demographics in some countries have been associated with an increase in the reported incidence of CH. However, the additional cases detected by the lower TSH cutoff tend to have either milder or transient hypothyroidism. Diagnosis of CH is made on the basis of serum concentrations of TSH and thyroxine (T4. Thyroid ultrasound, radionuclide scintigraphy, serum thyroglobulin (TG levels and specific genetic tests help ascertaining the exact etiological diagnosis. Non-availability of later tests should not deter the pediatrician from initiation of treatment. Age at initiation of treatment and starting dose of levothyroxine are critical factors that determine the long-term outcome. Higher doses of levothyroxine at 10–15 µg/kg/day are required in infants, with titration based on T4 and TSH levels, which are repeated frequently. Coexistence of other congenital anomalies in children with CH adds to the morbidity. Approximately 70% of babies

  18. Coronary artery anomalies overview: The normal and the abnormal

    Institute of Scientific and Technical Information of China (English)

    Adriana DM Villa; Eva Sammut; Arjun Nair; Ronak Rajani; Rodolfo Bonamini; Amedeo Chiribiri

    2016-01-01

    The aim of this review is to give a comprehensive and concise overview of coronary embryology and normal coronary anatomy, describe common variants of normal and summarize typical patterns of anomalous coronary artery anatomy. Extensive iconography supports the text, with particular attention to images obtained in vivo using non-invasive imaging. We have divided this article into three groups, according to their frequency in the general population: Normal, normal variant and anomaly. Although congenital coronary artery anomalies are relatively uncommon, they are the second most common cause of sudden cardiac death among young athletes and therefore warrant detailed review. Based on the functional relevance of each abnormality, coronary artery anomalies can be classified as anomalies with obligatory ischemia, without ischemia or with exceptional ischemia. The clinical symptoms may include chest pain, dyspnea, palpitations, syncope, cardiomyopathy, arrhythmia, myocardial infarction and sudden cardiac death. Moreover, it is important to also identify variants and anomalies without clinical relevance in their own right as complications during surgery or angioplasty can occur.

  19. Coronary artery anomalies overview: The normal and the abnormal

    Science.gov (United States)

    Villa, Adriana DM; Sammut, Eva; Nair, Arjun; Rajani, Ronak; Bonamini, Rodolfo; Chiribiri, Amedeo

    2016-01-01

    The aim of this review is to give a comprehensive and concise overview of coronary embryology and normal coronary anatomy, describe common variants of normal and summarize typical patterns of anomalous coronary artery anatomy. Extensive iconography supports the text, with particular attention to images obtained in vivo using non-invasive imaging. We have divided this article into three groups, according to their frequency in the general population: Normal, normal variant and anomaly. Although congenital coronary artery anomalies are relatively uncommon, they are the second most common cause of sudden cardiac death among young athletes and therefore warrant detailed review. Based on the functional relevance of each abnormality, coronary artery anomalies can be classified as anomalies with obligatory ischemia, without ischemia or with exceptional ischemia. The clinical symptoms may include chest pain, dyspnea, palpitations, syncope, cardiomyopathy, arrhythmia, myocardial infarction and sudden cardiac death. Moreover, it is important to also identify variants and anomalies without clinical relevance in their own right as complications during surgery or angioplasty can occur. PMID:27358682

  20. Coronary imaging techniques with emphasis on CT and MRI

    Energy Technology Data Exchange (ETDEWEB)

    Lederlin, Mathieu; Latrabe, Valerie; Corneloup, Olivier; Cochet, Hubert; Montaudon, Michel; Laurent, Francois [Hopital Cardiologique, CHU Bordeaux, Thoracic and Cardiovascular Imaging Department, Pessac (France); Thambo, Jean-Benoit [Hopital Cardiologique, CHU Bordeaux, Pediatric and Adult Congenital Heart Disease Unit, Pessac (France)

    2011-12-15

    Coronary artery imaging in children is challenging, with high demands both on temporal and spatial resolution due to high heart rates and smaller anatomy. Although invasive conventional coronary angiography remains the benchmark technique, over the past 10 years, CT and MRI have emerged in the field of coronary imaging. The choice of hardware is important. For CT, the minimum requirement is a 64-channel scanner. The temporal resolution of the scanner is most important for optimising image quality and minimising radiation dose. Manufacturers have developed several modes of electrocardiographic (ECG) triggering to facilitate dose reduction. Recent technical advances have opened new possibilities in MRI coronary imaging. As a non-ionising radiation technique, MRI is of great interest in paediatric imaging. It is currently recommended in centres with appropriate expertise for the screening of patients with suspected congenital coronary anomalies. However, MRI is still not feasible in infants. This review describes and discusses the technical requirements and the pros and cons of all three techniques. (orig.)

  1. Downhill Domination in Graphs

    OpenAIRE

    Haynes Teresa W.; Hedetniemi Stephen T.; Jamieson Jessie D.; Jamieson William B.

    2014-01-01

    A path π = (v1, v2, . . . , vk+1) in a graph G = (V,E) is a downhill path if for every i, 1 ≤ i ≤ k, deg(vi) ≥ deg(vi+1), where deg(vi) denotes the degree of vertex vi ∈ V. The downhill domination number equals the minimum cardinality of a set S ⊆ V having the property that every vertex v ∈ V lies on a downhill path originating from some vertex in S. We investigate downhill domination numbers of graphs and give upper bounds. In particular, we show that the downhill domination number of a grap...

  2. Radionuclide angiocardiography in the diagnosis of congenital heart disorders

    Energy Technology Data Exchange (ETDEWEB)

    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.

  3. Congenital Goitre in Goats

    Directory of Open Access Journals (Sweden)

    A. H. Cheema, A. Shakoor and A. H. Shahzad

    2010-01-01

    Full Text Available One full-term, dead foetus was successfully removed from a 5-year old, crossbred black and white goat. The goat was stall-fed with green fodder and it delivered two dead foetuses in the previous pregnancy. The foetus had a large swelling in the cranio-ventral neck region. Upon cutting skin, the swelling revealed extremely enlarged thyroid gland having two asymmetrical lobes with the right lobe was 8.10 x 15.0 cm and the left 5.5 x 8.6 cm in size. The skin was devoid of hair, pale-white and thickened with myxedema. Histologically, the enlarged thyroid consisted of colloid goitre and the lungs were oedematous. This case of congenital goitre was unusual and differed from the reported cases in two aspects viz 1 the two lobes were enlarged but unequal and 2 histologically goitre was colloid instead of usual hyperplastic type.

  4. Congenital pyriform aperture stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Osovsky, Micky [Schneider Pediatric Hospital, Department of Neonatology, Petach Tikvah (Israel); Rabin Medical Center, Department of Neonatology, Schneider Children' s Medical Center of Israel, Beilinson Campus, Petah Tikvah (Israel); Aizer-Danon, Anat; Horev, Gadi [Schneider Pediatric Hospital, Department of Pediatric Radiology, Petach Tikvah (Israel); Sirota, Lea [Schneider Pediatric Hospital, Department of Neonatology, Petach Tikvah (Israel)

    2007-01-15

    Nasal airway obstruction is a potentially life-threatening condition in the newborn. Neonates are obligatory nasal breathers. The pyriform aperture is the narrowest, most anterior bony portion of the nasal airway, and a decrease in its cross-sectional area will significantly increase nasal airway resistance. Congenital nasal pyriform aperture stenosis (CNPAS) is a rare, unusual form of nasal obstruction. It should be considered in the differential diagnosis of any neonate or infant with signs and symptoms of upper airway compromise. It is important to differentiate this level of obstruction from the more common posterior choanal stenosis or atresia. CNPAS presents with symptoms of nasal airway obstruction, which are often characterized by episodic apnea and cyclical cyanosis. (orig.)

  5. Characterizing congenital amusia.

    Science.gov (United States)

    Stewart, Lauren

    2011-04-01

    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of music and other domains, such as language. The present article considers findings concerning pitch discrimination, pitch memory, contour processing, experiential aspects of music listening in amusia, and emerging evidence concerning the neurobiology of the disorder. A simplified model of melodic processing is outlined, and possible loci of the cognitive deficit are discussed.

  6. Congenital hypothyroidism: Screening dilemma

    Directory of Open Access Journals (Sweden)

    Meena P Desai

    2012-01-01

    Full Text Available Primary sporadic congenital hypothyroidism (CH is the most common cause of hypothyroidism infancy early childhood in iodine sufficient region. Screening for neonatal CH began in 1970s. The rationale and reason for neonatal screening for CH (NSCH are well established. It is mandatory in most developed countries along with the screen for metabolic disorder. The possibility of measuring TSH and thyroid hormones in cord blood paved the way for newborn screening (NS for CH. Worldwide it is estimated that 25% of the live born population of 130 million babies undergo NSCH. Klein et al., by 1972 had shown improved CNS prognosis in CH treated by age 3 months. NSCH has largely eradicated the severe irreversible neurodevelopmental damage and reversed the chances of growth failure in infancy and early childhood.

  7. Downhill Domination in Graphs

    Directory of Open Access Journals (Sweden)

    Haynes Teresa W.

    2014-08-01

    Full Text Available A path π = (v1, v2, . . . , vk+1 in a graph G = (V,E is a downhill path if for every i, 1 ≤ i ≤ k, deg(vi ≥ deg(vi+1, where deg(vi denotes the degree of vertex vi ∈ V. The downhill domination number equals the minimum cardinality of a set S ⊆ V having the property that every vertex v ∈ V lies on a downhill path originating from some vertex in S. We investigate downhill domination numbers of graphs and give upper bounds. In particular, we show that the downhill domination number of a graph is at most half its order, and that the downhill domination number of a tree is at most one third its order. We characterize the graphs obtaining each of these bounds

  8. Dominantly Inherited Nemaline Myopathy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-08-01

    Full Text Available A locus on chromosome 15q21-23 for a dominantly inherited nemaline myopathy with core-like lesions is reported in two unrelated families evaluated at University Medical Center, Nijmegen, The Netherlands.

  9. Congenital heart defects and medical imaging.

    Science.gov (United States)

    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.

  10. Ectopic Origin of Coronary Arteries Diagnozed by Coronary Angiography

    Science.gov (United States)

    Krasniqi, Xhevdet; Gorani, Daut; Sejdiu, Basri; Citaku, Hajdin

    2016-01-01

    Introduction: Anomalous origin of coronary arteries from opposite sinus of Valsalva is rare finding. The incidence of anomalous origination of the left coronary artery from right sinus is 0.15% and the right coronary artery from the left sinus is 0.92%. The ectopic origin of left coronary artery or right coronary artery from opposite sinus depending on pathways and considering atherosclerotic changes are manifested with different clinical significance. Case report: We report two cases, the first case the coronary angiography showed the left coronary artery arising from the right coronary sinus, presenting with proximally and distally stenosed left anterior descending artery (LAD), associated with medial and distal stenosed right coronary artery (RCA). The second case the coronary angiography revealed the right coronary artery arising from the left coronary sinus, associated with tortuous medial and distal segments of left anterior descending artery (LAD), without atherosclerotic changes. The first case successfully underwent treatment procedures based on guidelines for revascularization. Conclusion: The coronary angiography of patients with coronary ischemia determines atherosclerotic disease with possibility of the presence of coronary artery anomalies that in cases with ectopic origin from opposite sinus continues to exist as a challenge during treatment in interventional cardiology. PMID:27482140

  11. Types of Congenital Heart Defects

    Science.gov (United States)

    ... heart develops. Examples of Simple Congenital Heart Defects Holes in the Heart (Septal Defects) The septum is ... Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA NO FEAR ACT OIG CONTACT US National Institutes of Health ...

  12. [Congenital Adrenal Hyperplasia in Adults].

    Science.gov (United States)

    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.

  13. [Congenital galactosaemia: an unusual presentation].

    Science.gov (United States)

    Marcoux, M O; Laporte-Turpin, E; Alberge, C; Fournie-Gardini, E; Castex, M P; Rolland, M; Brivet, M; Broue, P

    2005-02-01

    Congenital galactosaemia reveals usually in the second and third weeks of life with a severe liver dysfunction. We report on a case of congenital galactosaemia with, on the one hand, an early onset liver failure, without any free interval, and on the other hand, an hemophagocytic syndrome as a severe secondary outbreak with pulmonary haemorrhage. Appropriate diet led to normalisation of liver function. Hemophagocytosis, probably linked to an associated Klebsiella Pneumoniae sepsis, had a favourable outcome after antibiotic and corticosteroid therapy.

  14. Coronary Artery Disease - Coronary Heart Disease

    Science.gov (United States)

    ... result of coronary artery disease, or CAD, said Edward A. Fisher, M.D., Ph.D., M.P. ... Problems and Disease • High Blood Pressure (HBP) • Metabolic Syndrome • Pericarditis • Peripheral Artery Disease (PAD) • Stroke • Vascular Health • ...

  15. Congenital and perinatal cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Chun Soo Kim

    2010-01-01

    Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

  16. Congenital bronchoesophageal fistula in adults

    Institute of Scientific and Technical Information of China (English)

    Bao-Shi Zhang; Nai-Kang Zhou; Chang-Hai Yu

    2011-01-01

    AIM: To study the clinical characteristics, diagnosis and surgical treatment of congenital bronchoesophageal fistulae in adults. METHODS: Eleven adult cases of congenital bronchoesophageal fistula diagnosed and treated in our hospital between May 1990 and August 2010 were reviewed. Its clinical presentations, diagnostic methods, anatomic type, treatment, and follow-up were recorded. RESULTS: Of the chief clinical presentations, nonspecific cough and sputum were found in 10 (90.9%), recurrent bouts of cough after drinking liquid food in 6 (54.6%), hemoptysis in 6 (54.6%), low fever in 4 (36.4%), and chest pain in 3 (27.3%) of the 11 cases, respectively. The duration of symptoms before diagnosis ranged 5-36.5 years. The diagnosis of congenital bronchoesophageal fistulae was established in 9 patients by barium esophagography, in 1 patient by esophagoscopy and in 1 patient by bronchoscopy, respectively. The congenital bronchoesophageal fistulae communicated with a segmental bronchus, a main bronchus, and an intermediate bronchus in 8, 2 and 1 patients, respectively. The treatment of congenital bronchoesophageal fistulae involved excision of the fistula in 10 patients or division and suturing in 1 patient. The associated lung lesion was removed in all patients. No long-term sequelae were found during the postoperative follow-up except in 1 patient with bronchial fistula who accepted reoperation before recovery. CONCLUSION: Congenital bronchoesophageal fistula is rare in adults. Its most useful diagnostic method is esophagography. It must be treated surgically as soon as the diagnosis is established.

  17. Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery: Diagnosis with CT Angiography

    Directory of Open Access Journals (Sweden)

    Guray Oncel

    2013-01-01

    Full Text Available Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA is a rare congenital anomaly. It is associated with early infant mortality and sudden death in adults. Traditionally, ALCAPA has been diagnosed by angiography or autopsy; however, the development of cardiac computed tomography (CT and magnetic resonance imaging (MRI has allowed noninvasive evaluation of the coronary anatomy by direct visualization of the origin of the left coronary artery (LCA from the pulmonary artery. We report a case of 10-year-old girl who has been on follow up for dilated cardiomyopathy for 4 years. The definitive diagnosis of ALCAPA is reached by multislice computed tomography (MSCT. The MSCT scan showed an anomalous origin of LCA from the pulmonary trunk, with a tortuous and dilated right coronary artery and right-to-left collateralization. Consequently, the patient was successfully treated with surgery.

  18. Coronary Artery Bypass

    Directory of Open Access Journals (Sweden)

    Kadri Ceberut

    2011-01-01

    Full Text Available Ancient schwannoma is a rare variant of neural tumors though rarely seen in the thorax. The combination with coronary artery diseases is also rare. Here we describe a 66 year-old male who had undergone one-stage combined surgery for thoracic ancient schwannomas removal and coronary artery disease. The masses were, respectively, 13 cm in the middle mediastinum and 5 cm in diameter originating from the intercostal nerve. The tumors were successfully removed using sternotomy, and then a coronary artery bypass grafting was performed. Here we discuss this rare tumor in relation to the relevant literature.

  19. Visual mental imagery in congenital prosopagnosia.

    Science.gov (United States)

    Grüter, Thomas; Grüter, Martina; Bell, Vaughan; Carbon, Claus-Christian

    2009-04-10

    Congenital prosopagnosia (cPA) is a selective impairment in the visual learning and recognition of faces without detectable brain damage or malformation. There is evidence that it can be inherited in an autosomal dominant mode of inheritance. We assessed the capacity for visual mental imagery in 53 people with cPA using an adapted Marks' VVIQ (Vividness of Visual Imaging Questionnaire). The mean score of the prosopagnosic group showed the lowest mental imagery scores ever published for a non-brain damaged group. In a subsample of 12 people with cPA, we demonstrated that the cPA is a deficit of configural face processing. We suggest that the 'VVIQ-PA' (VVIQ-Prosopagnosia) questionnaire can help to confirm the diagnosis of cPA. Poor mental imagery, a configural face processing impairment and clinical prosopagnosia should be considered as symptoms of a yet poorly understood hereditary cerebral dysfunction.

  20. Dominant Voice in Hamlet

    Institute of Scientific and Technical Information of China (English)

    李丹

    2015-01-01

    <正>The Tragedy of Hamlet dramatizes the revenge Prince Hamlet exacts on his uncle Claudius for murdering King Hamlet,Claudius’s brother and Prince Hamlet’s father,and then succeeding to the throne and taking as his wife Gertrude,the old king’s widow and Prince Hamlet’s mother.This paper will discuss something about dominant voice in the play.Dominant voice is the major voice in the country,the society,or the whole world.Those people who have the power or

  1. Coronary artery spasm

    Science.gov (United States)

    ... Saunders; 2016:chap 71. Giugliano RP, Cannon CP, Braunwald E. Non-ST elevation acute coronary syndromes In: Mann DL, Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of ...

  2. Auxetic coronary stent endoprosthesis

    DEFF Research Database (Denmark)

    Amin, Faisal; Ali, Murtaza Najabat; Ansari, Umar;

    2014-01-01

    BACKGROUND: Cardiovascular heart disease is one of the leading health issues in the present era and requires considerable health care resources to prevent it. The present study was focused on the development of a new coronary stent based on novel auxetic geometry which enables the stent to exhibit...... a negative Poisson's ratio. Commercially available coronary stents have isotropic properties, whereas the vascular system of the body shows anisotropic characteristics. This results in a mismatch between anisotropic-isotropic properties of the stent and arterial wall, and this in turn is not favorable...... for mechanical adhesion of the commercially available coronary stents with the arterial wall. It is believed that an auxetic coronary stent with inherent anisotropic mechanical properties and negative Poisson's ratio will have good mechanical adhesion with the arterial wall. METHODS: The auxetic design...

  3. Coronary Artery Disease

    Science.gov (United States)

    Coronary artery disease (CAD) is the most common type of heart disease. It is the leading cause of death ... happens when the arteries that supply blood to heart muscle become hardened and narrowed. This is due ...

  4. Congenital Diaphragmatic Hernia

    Science.gov (United States)

    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

  5. Congenital parotid fistula

    Directory of Open Access Journals (Sweden)

    Shiggaon Natasha

    2014-01-01

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

  6. Congenital hypothyroidism in neonates

    Directory of Open Access Journals (Sweden)

    Aneela Anjum

    2014-01-01

    Full Text Available Context: Congenital hypothyroidism (CH is one of the most common preventable causes of mental retardation in children and it occurs in approximately 1:2,000-1:4,000 newborns. Aims and Objectives: The aim of this study is to determine the frequency of CH in neonates. Settings and Design: This cross-sectional study was conducted in neonatal units of the Department of Pediatrics Unit-I, King Edward Medical University/Mayo Hospital, Lahore and Lady Willington Hospital Lahore in 6 months (January-June 2011. Materials and Methods: Sample was collected by non-probability purposive sampling. After consent, 550 newborn were registered for the study. Demographic data and relevant history was recorded. After aseptic measures, 2-3 ml venous blood analyzed for thyroid-stimulating hormone (TSH level by immunoradiometric assay. Treatment was started according to the individual merit as per protocol. Statistical Analysis Used: Data was analyzed by SPSS 17 and Chi-square test was applied to find out the association of CH with different variables. Results: The study population consisted of 550 newborns. Among 550 newborns, 4 (0.8% newborns had elevated TSH level. CH had statistically significant association with mother′s hypothyroidism (P value 0.000 and mother′s drug intake during the pregnancy period (P value 0.013. Conclusion: CH is 0.8% in neonates. It has statistically significant association with mother′s hypothyroidism and mother′s drug intake during pregnancy.

  7. Congenital hyperthyroidism: autopsy report

    Directory of Open Access Journals (Sweden)

    Lima Marcus Aurelho de

    1999-01-01

    Full Text Available We report the autopsy of a stillborn fetus with congenital hyperthyroidism born to a mother with untreated Graves' disease, whose cause of death was congestive heart failure. The major findings concerned the skull, thyroid, heart, and placenta. The cranial sutures were closed, with overlapping skull bones. The thyroid was increased in volume and had intense blood congestion. Histological examination showed hyperactive follicles. The heart was enlarged and softened, with dilated cavities and hemorrhagic suffusions in the epicardium. The placenta had infarctions that involved at least 20% of its surface, and the vessels of the umbilical cord were fully exposed due to a decrease in Wharton 's jelly. Hyperthyroidism was confirmed by the maternal clinical data, the fetal findings of exophthalmia, craniosynostosis, and goiter with signs of follicular hyperactivity. Craniosynostosis is caused by the anabolic action of thyroid hormones in bone formation during the initial stages of development. The delayed initiation of treatment in the present case contributed to the severity of fetal hyperthyroidism and consequent fetal death.

  8. Congenital pulmonary lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Campisi Corradino

    2006-10-01

    Full Text Available Abstract Congenital pulmonary lymphangiectasia (PL is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.

  9. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Charles Antzelevitch

    2004-04-01

    Full Text Available Long QT intervals in the ECG have long been associated with sudden cardiac death. The congenital long QT syndrome was first described in individuals with structurally normal hearts in 1957.1 Little was known about the significance of a short QT interval. In 1993, after analyzing 6693 consecutive Holter recordings Algra et al concluded that an increased risk of sudden death was present not only in patients with long QT interval, but also in patients with short QT interval (<400 ms.2 Because this was a retrospective analysis, further evaluation of the data was not possible. It was not until 2000 that a short-QT syndrome (SQTS was proposed as a new inherited clinical syndrome by Gussak et al.3 The initial report was of two siblings and their mother all of whom displayed persistently short QT interval. The youngest was a 17 year old female presenting with several episodes of paroxysmal atrial fibrillation requiring electrical cardioversion.3 Her QT interval measured 280 msec at a heart rate of 69. Her 21 year old brother displayed a QT interval of 272 msec at a heart rate of 58, whereas the 51 year old mother showed a QT of 260 msec at a heart rate of 74. The authors also noted similar ECG findings in another unrelated 37 year old patient associated with sudden cardiac death.

  10. Congenital Progressive Mutilating Hemangioma

    Directory of Open Access Journals (Sweden)

    Anastasiya Chokoeva

    2017-06-01

    Full Text Available A 73-year-old male patient was admitted with symptoms of decompensated cardiac and pulmonary insufficiency with long-lasting history. A tumor-like formation was observed within the clinical examination, covering the whole skin of the nose, paranasal region of the left part of the face, as well as the upper and lower left eyelids. The lesion was with yellow to brownish surface and dark-reddish to violet discolored peripheral area, composed of nodular formations, smooth central surface and firm texture on palpation. The histopathological examination verified the diagnosis of hemangioma, which had been congenital, regarding the patient’s history, treated surgically about 50 years ago, with signs of recurrence. The presented patient had been treated surgically at the age of 20, without medical evidence of the type of the performed excision. The recurrence occurs almost 50 years later, at the age of 78. To the best of our knowledge, this is the first reported recurrence of infantile hemangioma, treated surgically almost 50 years ago.

  11. Dominant cystoid macular dystrophy

    NARCIS (Netherlands)

    Saksens, N.T.M.; Huet, R.A.C. van; Lith-Verhoeven, J.J. van; Hollander, A.I. den; Hoyng, C.B.; Boon, C.J.

    2015-01-01

    OBJECTIVE: To describe the clinical characteristics and long-term follow-up in patients with autosomal dominant cystoid macular dystrophy (DCMD). DESIGN: Retrospective case series. PARTICIPANTS: Ninety-seven patients with DCMD. METHODS: Extensive ophthalmic examination, including visual acuity (VA),

  12. Iron dominated magnets

    Energy Technology Data Exchange (ETDEWEB)

    Fischer, G.E.

    1985-07-01

    These two lectures on iron dominated magnets are meant for the student of accelerator science and contain general treatments of the subjects design and construction. The material is arranged in the categories: General Concepts and Cost Considerations, Profile Configuration and Harmonics, Magnetic Measurements, a few examples of ''special magnets'' and Materials and Practices. Extensive literature is provided.

  13. discourse of domination

    African Journals Online (AJOL)

    suffering justifies the position and work of The Bank and other social forces with similar ... include accounts of the growing and increasingly interwoven resistance in .... tural domination or as parasites able to feed off a social body weakened by the ... through objective analysis of poor people's descriptions of their realities'.

  14. Searching for world domination

    CERN Multimedia

    Quillen, E

    2004-01-01

    "Optimists might believe Microsoft suffered a setback last week that will impede its progress toward world domination, but I suspect the company has already found a way to prevail. At issue before the European Union was Microsoft's bundling of its Windows Media Player with its operating system" (1 page)

  15. Autosomal dominant osteopetrosis revisited

    DEFF Research Database (Denmark)

    Bollerslev, Jens; Henriksen, Kim; Nielsen, Morten Frost Munk

    2013-01-01

    Systematic studies of autosomal dominant osteopetrosis (ADO) were followed by the identification of underlying mutations giving unique possibilities to perform translational studies. What was previously designated ADO1 turned out to be a high bone mass phenotype caused by a missense mutation...

  16. Dominant optic atrophy

    DEFF Research Database (Denmark)

    Lenaers, Guy; Hamel, Christian; Delettre, Cécile

    2012-01-01

    DEFINITION OF THE DISEASE: Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. The disease affects primary the retinal ganglion cells (RGC...

  17. Coronary heart disease

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008042 Analysis of coronary artery lesion characteristics and its clinical implications in patients with acute non-ST-segment elevation myocardial infarction. BAI Taizhu(柏太柱), et al. Cardiovasc Dept, Hengyang Centr Hosp & Hengyang Cardiovasc Intervention Center, Hengyang 421001. Chin J Arterioscler 2007;15(10):780-782. Objective To investigate the coronary artery lesion characteristics and its clinical implications in patients with acute non-ST-segment elevation myocardial infarction (NSTEMI).

  18. Coronary heart disease

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008277 Relationship between pulse wave velocity and the NYHA classification of coronary insufficiency.SUN Weiping(孙卫平),et al.Dept Cardiol,Tongji Hosp Tongji Univ,Shanghai 200065.Chin J Intern Med 2008;47(5):382-384.Objective To investigate the relationship between brachial-ankle pulse wave velocity(baPWV)and different stage of cardiac dysfunction.Methods 253 consecutive patients with coronary atherosclerotic heart disease

  19. Large coronary intramural hematomas

    DEFF Research Database (Denmark)

    Antonsen, Lisbeth; Thayssen, Per; Jensen, Lisette Okkels

    2015-01-01

    coronary vessel wall pathology, with poorly understood underlying pathogenic mechanisms. Affected individuals may present with a broad spectrum of symptoms ranging from acute coronary syndromes (ACS) to cardiogenic shock or even sudden cardiac death. The disease entity causes challenges in terms of both......, no randomized, controlled trials exist to guide treatment, and no consensus regarding management is available. Currently, treatment strategies are based on a case-by-case clinical assessment, and experiences described in previous, limited retrospective studies and case reports....

  20. Congenital Hepatic Fibrosis: An Uncommon Cause of Chronic Renal Failure

    Directory of Open Access Journals (Sweden)

    A Azarfar

    2014-04-01

    Full Text Available Congenital Hepatic Fibrosis (CHF is a rare disease that affects both the liver and kidneys.  Congenital hepatic fibrosis (CHF is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. Affected individuals also have impaired renal function, usually caused, in children and teenagers, by an autosomal recessive polycystic kidney disease (ARPKD. Impaired renal function associated with CHF in adults is caused by an autosomal dominant polycystic kidney disease (ADPKD. Case presentation: We report the case of a 8-year-old Iranian girlwas admitted to our hospital for evaluation ofrenal failure. In patient hepatomegaly was noted incidentally on a routine physical examination and then kidney biopsy showed global sclerosis and   A liver biopsy revealed proliferation of collagen fibres surrounding the portal area, a finding that was compatible with congenital hepatic fibrosisand our patient was scheduled for kidney and  liver transplantation. Conclusion: The relationship of ARPKD to CHF is the subject of substantial controversy. Some clinicians suggest that the two conditions represent one disorder with a range of clinical/pathological presentations Key word: Congenital Hepatic Fibrosis Polycystic Kidney Disease, CRF.

  1. Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome

    NARCIS (Netherlands)

    Croxen, R; Newland, C; Beeson, D; Oosterhuis, H; Chauplannaz, G; Vincent, A; NewsomDavis, J

    1997-01-01

    Congenital myasthenic syndromes are a group of rare genetic disorders that compromise neuromuscular transmission. A subset of these disorders, the slow-channel congenital myasthenic syndrome (SCCMS), is dominantly inherited and has been shown to involve mutations within the muscle acetylcholine rece

  2. Coronary Artery Anomalies in Animals

    Directory of Open Access Journals (Sweden)

    Brian A. Scansen

    2017-04-01

    Full Text Available Coronary artery anomalies represent a disease spectrum from incidental to life-threatening. Anomalies of coronary artery origin and course are well-recognized in human medicine, but have received limited attention in veterinary medicine. Coronary artery anomalies are best described in the dog, hamster, and cow though reports also exist in the horse and pig. The most well-known anomaly in veterinary medicine is anomalous coronary artery origin with a prepulmonary course in dogs, which limits treatment of pulmonary valve stenosis. A categorization scheme for coronary artery anomalies in animals is suggested, dividing these anomalies into those of major or minor clinical significance. A review of coronary artery development, anatomy, and reported anomalies in domesticated species is provided and four novel canine examples of anomalous coronary artery origin are described: an English bulldog with single left coronary ostium and a retroaortic right coronary artery; an English bulldog with single right coronary ostium and transseptal left coronary artery; an English bulldog with single right coronary ostium and absent left coronary artery with a prepulmonary paraconal interventricular branch and an interarterial circumflex branch; and a mixed-breed dog with tetralogy of Fallot and anomalous origin of all coronary branches from the brachiocephalic trunk. Coronary arterial fistulae are also described including a coronary cameral fistula in a llama cria and an English bulldog with coronary artery aneurysm and anomalous shunting vessels from the right coronary artery to the pulmonary trunk. These examples are provided with the intent to raise awareness and improve understanding of such defects.

  3. Triple-Vessel Percutaneous Coronary Revascularization In Situs Inversus Dextrocardia

    Directory of Open Access Journals (Sweden)

    Nikolaos Kakouros

    2010-01-01

    Full Text Available Dextrocardia with situs inversus occurs in approximately one in 10,000 individuals of whom 20% have primary ciliary dyskinesia inherited as an autosomal recessive trait. These patients have a high incidence of congenital cardiac disease but their risk of coronary artery disease is similar to that of the general population. We report what is, to our knowledge, the first case of total triple-vessel coronary revascularization by percutaneous stent implantation in a 79-year-old woman with situs inversus dextrocardia. We describe the successful use of standard diagnostic and interventional guide catheters with counter rotation and transversely inversed image acquisition techniques. The case also highlights that the right precordial pain may represent cardiac ischemia in this population.

  4. Left coronary artery stenosis causing left ventricular dysfunction in two children with supravalvular aortic stenosis.

    Science.gov (United States)

    Yildiz, Okan; Altin, Firat H; Kaya, Mehmet; Ozyılmaz, Isa; Guzeltas, Alper; Erek, Ersin

    2015-04-01

    Congenital supravalvar aortic stenosis (SVAS) is an arteriopathy associated with Williams-Beuren syndrome (WBS) and other isolated elastin gene deletions. Cardiovascular manifestations associated with WBS are characterized by obstructive arterial lesions such as SVAS and pulmonary artery stenosis in addition to bicuspid aortic valve and mitral valve prolapse. However, coronary artery ostial stenosis may be associated with SVAS, and it increases the risk of sudden death and may complicate surgical management. In this report, we present our experience with two patients having SVAS and left coronary artery ostial stenosis with associated left ventricular dysfunction. © The Author(s) 2014.

  5. First Diagonal Coronary Artery: Left Ventricular Fistula Presenting as Unstable Angina

    Directory of Open Access Journals (Sweden)

    Murat Sener

    2013-01-01

    Full Text Available Coronary artery fistulae are characterized by communications between a coronary artery and a cardiac chamber or another vascular structure. They are usually congenital, but acquired forms may occur. Most patients are usually asymptomatic. However, some studies have emphasized that the incidence of symptoms and complications increases with age, particularly after the age of 20 (Liberthson et al. 1979, Hong et al. 2004. We aimed to present a very rare form of fistula originating from the first diagonal artery and connecting into the left ventricle.

  6. First diagonal coronary artery: left ventricular fistula presenting as unstable angina.

    Science.gov (United States)

    Sener, Murat; Akkaya, Mehmet; Bilici, Muammer

    2013-01-01

    Coronary artery fistulae are characterized by communications between a coronary artery and a cardiac chamber or another vascular structure. They are usually congenital, but acquired forms may occur. Most patients are usually asymptomatic. However, some studies have emphasized that the incidence of symptoms and complications increases with age, particularly after the age of 20 (Liberthson et al. 1979, Hong et al. 2004). We aimed to present a very rare form of fistula originating from the first diagonal artery and connecting into the left ventricle.

  7. Congenital Scoliosis (Mini-review).

    Science.gov (United States)

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

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

  8. Coronary artery fistulas as a cause of angina: How to manage these patients?

    Energy Technology Data Exchange (ETDEWEB)

    Buccheri, Dario; Dendramis, Gregory, E-mail: gregorydendramis@libero.it; Piraino, Davide; Chirco, Paola Rosa; Carità, Patrizia; Paleologo, Claudia; Andolina, Giuseppe; Assennato, Pasquale; Novo, Salvatore

    2015-07-15

    Coronary artery fistulas represent the most common hemodynamically significant congenital defect of the coronary arteries and the clinical presentation is mainly dependent on the severity of the left-to-right shunt. We describe a case of a 55-year-old man with history of chest pain and without history of previous significant chest wall trauma or any invasive cardiac procedures. A coronary multislice computed tomography showed two large coronary fistulas arising from the left anterior descending coronary artery and ending in an angiomatous plexus draining into the common pulmonary trunk. Coronary angiography confirmed the CT finding and showed a third fistulous communication arising from the sinus node artery. Although coronary fistulas are infrequent, they are becoming increasingly important because their management and treatment could prevent serious complications. The latest guidelines of the American College of Cardiology/American Heart Association indicate as Class I recommendation the percutaneous or surgical closure for large fistulas regardless of symptoms. In this manuscript, we provide a detailed review of the literature on this topic, focusing on the clinical management of these patients.

  9. Distal coronary hemoperfusion during percutaneous transluminal coronary angioplasty

    NARCIS (Netherlands)

    deMuinck, ED; denHeijer, P; vanDijk, RB; Crijns, HJGM; Hillige, HL; Lie, KI

    1996-01-01

    Distal coronary hemoperfusion during percutaneous transluminal coronary angioplasty (PTCA)-with an autoperfusion balloon or active system-facilitates prolonged balloon inflation. Prolonged inflations may tack up intimal dissections and improve the primary angioplasty result in complex lesions. Addit

  10. Study of Coronary Artery Disease in Single Aortic Valvular Disease

    Institute of Scientific and Technical Information of China (English)

    张斌; 杨伟民; 占亚平

    2003-01-01

    Objectives To analyze the results of coronary angiographies (GAG) in patients with single aortic valvular heart disease; To study the relationship between aortic valve diseases and coronary artery disease (CAD). Methods 105 patients with single aortic valvular heart disease before surgery underwent angiography. The data of clinical characteristics and angiographies were analyzed. Results 51 patients had symptoms of angina pectoris among 105 patients with single aortic valvular heart disease. Seven of them were confirmed coronary artery disease by angiographies. Although the incidence of angina in aortic valve stenosis group was significantly higher than that in aortic valve regurgitation, the probability of combination of CAD in aortic valve stenosis group was similar to the later. However, the probability of combination of CAD in degenerative aortic valve group was significantly higher than the groups of rheumatic, congenitally bicuspid aortic valves, and other causes (p <0.01).Conclusions Angina pectoris is not sensitive for diagnosis of CAD in single aortic valve heart disease.The probability of combination of CAD in degenerative aortic valve disease is higher than that in aortic valve disease with other causes. Coronary angiography is strongly suggested for these patients.

  11. Genetics Home Reference: congenital dyserythropoietic anemia

    Science.gov (United States)

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

  12. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Obesity? National Institute of Diabetes and Digestive and Kidney Diseases: Active at Any Size! Educational Resources (6 links) Centers for Disease Control and Prevention: Obesity and Genetics MalaCards: congenital leptin deficiency Orphanet: Obesity due to congenital leptin deficiency ...

  13. Five Facts about Congenital Heart Defects

    Science.gov (United States)

    ... Button Past Emails CDC Features Five Facts about Congenital Heart Defects Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir Congenital heart defects are the most common types of birth defects. ...

  14. Genetic Counseling for Congenital Heart Defects

    Science.gov (United States)

    ... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Oct 26,2015 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

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

    Directory of Open Access Journals (Sweden)

    Amit Mishra

    2016-02-01

    Full Text Available Abstract 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.

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

    Science.gov (United States)

    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

  17. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge

    2007-01-01

    AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

  18. Paternal transmission of congenital myotonic dystrophy.

    OpenAIRE

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

    1994-01-01

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

  19. Dual anterior descending coronary artery associated with coronary artery disease

    Directory of Open Access Journals (Sweden)

    Siqueira Luciane da L. V.

    2003-01-01

    Full Text Available The patient is a male with risk factors for coronary artery disease, who was referred for cardiac catheterization after acute myocardial infarction in the inferior wall. The patient underwent transluminal coronary angioplasty in the right coronary artery with successful stent implantation.

  20. Distal coronary hemoperfusion during percutaneous transluminal coronary angioplasty

    NARCIS (Netherlands)

    Muinck, Ebo Derk de

    1994-01-01

    In this thesis several aspects of passive and active coronary perfusion during coronary angioplasty are investigated. The autoperfusion balloon catheters that were evaluated are the Stack® and the RX-60® catheters (Advanced Cardiovascular Systems, inc., Santa Clara, California, U.S.A). The coronary

  1. Distal coronary hemoperfusion during percutaneous transluminal coronary angioplasty

    NARCIS (Netherlands)

    Muinck, Ebo Derk de

    1994-01-01

    In this thesis several aspects of passive and active coronary perfusion during coronary angioplasty are investigated. The autoperfusion balloon catheters that were evaluated are the Stack® and the RX-60® catheters (Advanced Cardiovascular Systems, inc., Santa Clara, California, U.S.A). The coronary

  2. Single Coronary Artery with Anomalous Origin of the Right Coronary Artery from the Distal Portion of Left Circumflex Artery: A Very Rare Case

    Directory of Open Access Journals (Sweden)

    MohammadReza Pourbehi

    2015-10-01

    Full Text Available Congenital anomalies of coronary arteries, albeit rare, may be significant contributors to angina pectoris, hemodynamic abnormalities, and sudden cardiac death. A 47-year-old man referred to us with atypical chest pain. Electrocardiography demonstrated no significant ischemic changes, but cardiac troponin I test was positive. The patient underwent coronary angiography, which revealed a single coronary artery from the left Valsalva sinus. In addition, the left anterior descending (LAD and the left circumflex (LCx arteries were in normal position with significant stenosis in the mid-portion of the LAD and the distal portion of the LCx. A large branch originated from the distal portion of the LCx and tapered toward the proximal portion as the right coronary artery (RCA. This is a rare coronary anomaly that has no ischemic result. Coronary lesions were the cause of the patient’s angina pectoris. Angioplasty and stenting of the LAD and LCx was done, and medical therapy (Clopidogrel, Aspirin, Atorvastatin, and Metoprolol was continued. The patient was asymptomatic at 8 months’ follow-up.

  3. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

    NARCIS (Netherlands)

    Callewaert, B.L.; Loeys, B.L.; Ficcadenti, A.; Vermeer, S.; Landgren, M.; Kroes, H.Y.; Yaron, Y.; Pope, M.; Foulds, N.; Boute, O.; Galan, F.; Kingston, H.; Aa, N. van der; Salcedo, I.; Swinkels, M.E.; Wallgren-Pettersson, C.; Gabrielli, O.; Backer, J. de; Coucke, P.J.; Paepe, A.M. De

    2009-01-01

    Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. Recent reports also mention aortic root dilatation, a finding previously thought to differentiate

  4. Comprehensive Clinical and Molecular Assessment of 32 Probands With Congenital Contractural Arachnodactyly : Report of 14 Novel Mutations and Review of the Literature

    NARCIS (Netherlands)

    Callewaert, Bert L.; Loeys, Bart L.; Ficcadenti, Anna; Vermeer, Sascha; Landgren, Magnus; Kroes, Hester Y.; Yaron, Yuval; Pope, Michael; Foulds, Nicola; Boute, Odile; Galan, Francisco; Kingston, Helen; Van der Aa, Nathalie; Salcedo, Iratxe; Swinkels, Marielle E.; Wallgren-Pettersson, Carina; Gabrielli, Orazio; De Backer, Julie; Coucke, Paul J.; De Paepe, Anne M.

    Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. Recent reports also mention aortic root dilatation, a finding previously thought to differentiate

  5. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

    NARCIS (Netherlands)

    Callewaert, B.L.; Loeys, B.L.; Ficcadenti, A.; Vermeer, S.; Landgren, M.; Kroes, H.Y.; Yaron, Y.; Pope, M.; Foulds, N.; Boute, O.; Galan, F.; Kingston, H.; Aa, N. van der; Salcedo, I.; Swinkels, M.E.; Wallgren-Pettersson, C.; Gabrielli, O.; Backer, J. de; Coucke, P.J.; Paepe, A.M. De

    2009-01-01

    Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. Recent reports also mention aortic root dilatation, a finding previously thought to differentiate

  6. Comprehensive Clinical and Molecular Assessment of 32 Probands With Congenital Contractural Arachnodactyly : Report of 14 Novel Mutations and Review of the Literature

    NARCIS (Netherlands)

    Callewaert, Bert L.; Loeys, Bart L.; Ficcadenti, Anna; Vermeer, Sascha; Landgren, Magnus; Kroes, Hester Y.; Yaron, Yuval; Pope, Michael; Foulds, Nicola; Boute, Odile; Galan, Francisco; Kingston, Helen; Van der Aa, Nathalie; Salcedo, Iratxe; Swinkels, Marielle E.; Wallgren-Pettersson, Carina; Gabrielli, Orazio; De Backer, Julie; Coucke, Paul J.; De Paepe, Anne M.

    2009-01-01

    Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. Recent reports also mention aortic root dilatation, a finding previously thought to differentiate

  7. Hereditary congenital unilateral deafness : A new disorder?

    NARCIS (Netherlands)

    Dikkers, FG; Verheij, JBGM; van Mechelen, M

    2005-01-01

    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 d

  8. Signs and Symptoms of Congenital Heart Defects

    Science.gov (United States)

    ... Twitter. What Are the Signs and Symptoms of Congenital Heart Defects? Many congenital heart defects cause few or no signs and symptoms. A ... lips, and fingernails) Fatigue (tiredness) Poor blood circulation Congenital heart defects don't cause chest pain or other painful ...

  9. Care and Treatment for Congenital Heart Defects

    Science.gov (United States)

    ... Thromboembolism Aortic Aneurysm More Care and Treatment for Congenital Heart Defects Updated:Oct 26,2015 Not all people with ... supports you in your pursuit of heart health. Congenital Heart Defects • Home • About Congenital Heart Defects • The Impact of ...

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

    Science.gov (United States)

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

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

  11. Schinzel-Giedion syndrome and congenital megacalyces.

    Science.gov (United States)

    Herman, T E; Sweetser, D A; McAlister, W H; Dowton, S B

    1993-01-01

    The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who had bilateral congenital megacalyces. Congenital megacalyces is believed to be a developmental abnormality, occurs in other malformation syndromes and has not previously been described in the Schinzel-Giedion syndrome.

  12. MRI of congenital urethroperineal fistula

    Energy Technology Data Exchange (ETDEWEB)

    Ghadimi-Mahani, Maryam; Dillman, Jonathan R.; Pai, Deepa; DiPietro, Michael [C. S. Mott Children' s Hospital, Department of Radiology, Section of Pediatric Radiology, University of Michigan Health System, Ann Arbor, MI (United States); Park, John [C. S. Mott Children' s Hospital, Department of Pediatric Urology, University of Michigan Health System, Ann Arbor, MI (United States)

    2010-12-15

    We present the MRI features of a congenital urethroperineal fistula diagnosed in a 12-year-old boy being evaluated after a single urinary tract infection. This diagnosis was initially suggested by voiding cystourethrogram and confirmed by MRI. Imaging revealed an abnormal fluid-filled tract arising from the posterior urethra and tracking to the perineal skin surface that increased in size during micturition. Surgical resection and histopathological evaluation of the abnormal tract confirmed the diagnosis of congenital urethroperineal fistula. MRI played important roles in confirming the diagnosis and assisting surgical planning. (orig.)

  13. Anomalous Origin of the Right Coronary Artery from the Left Anterior Descending Coronary Artery in a Patient with Ascending Aortic Aneurysm

    Directory of Open Access Journals (Sweden)

    Ufuk Gürkan

    2012-04-01

    Full Text Available The incidence of coronary artery anomalies has been reported between 0.6 to 1.3% in angiographic series and 0.3% in autopsy series. An isolated single coronary artery (SCA is even a rarer congenital anomaly occurring in approximately 0.02% of the population. The ectopic origin of the right coronary artery (RCA from the left anterior descending (LAD artery is relatively rare and more benign than other types of anomalous origin of the RCAs. We report a case of an adult male patient with SCA anomaly in which the RCA takes off from the mid LAD. To the best of our knowledge, SCA anomaly coinciding with ascending aortic aneurysm which was treated with Bentall operation has never been described before.

  14. Covert face recognition relies on affective valence in congenital prosopagnosia.

    Science.gov (United States)

    Bate, Sarah; Haslam, Catherine; Jansari, Ashok; Hodgson, Timothy L

    2009-06-01

    Dominant accounts of covert recognition in prosopagnosia assume subthreshold activation of face representations created prior to onset of the disorder. Yet, such accounts cannot explain covert recognition in congenital prosopagnosia, where the impairment is present from birth. Alternatively, covert recognition may rely on affective valence, yet no study has explored this possibility. The current study addressed this issue in 3 individuals with congenital prosopagnosia, using measures of the scanpath to indicate recognition. Participants were asked to memorize 30 faces paired with descriptions of aggressive, nice, or neutral behaviours. In a later recognition test, eye movements were monitored while participants discriminated studied from novel faces. Sampling was reduced for studied--nice compared to studied--aggressive faces, and performance for studied--neutral and novel faces fell between these two conditions. This pattern of findings suggests that (a) positive emotion can facilitate processing in prosopagnosia, and (b) covert recognition may rely on emotional valence rather than familiarity.

  15. Current Indications for Coronary Arteriography

    OpenAIRE

    Dodek, Arthur

    1981-01-01

    Coronary arteriography is not necessary in all patients with angina pectoris. Angiography is indicated to define coronary anatomy in patients who have persistent angina despite full medication. It is also indicated in patients with a markedly positive stress test, unstable angina pectoris, positive stress test following myocardial infarction, variants of angina, ventricular aneurysm complications, and in the young coronary patient. Coronary arteriography may clarify the diagnosis in patients ...

  16. Dominating biological networks.

    Directory of Open Access Journals (Sweden)

    Tijana Milenković

    Full Text Available Proteins are essential macromolecules of life that carry out most cellular processes. Since proteins aggregate to perform function, and since protein-protein interaction (PPI networks model these aggregations, one would expect to uncover new biology from PPI network topology. Hence, using PPI networks to predict protein function and role of protein pathways in disease has received attention. A debate remains open about whether network properties of "biologically central (BC" genes (i.e., their protein products, such as those involved in aging, cancer, infectious diseases, or signaling and drug-targeted pathways, exhibit some topological centrality compared to the rest of the proteins in the human PPI network.To help resolve this debate, we design new network-based approaches and apply them to get new insight into biological function and disease. We hypothesize that BC genes have a topologically central (TC role in the human PPI network. We propose two different concepts of topological centrality. We design a new centrality measure to capture complex wirings of proteins in the network that identifies as TC those proteins that reside in dense extended network neighborhoods. Also, we use the notion of domination and find dominating sets (DSs in the PPI network, i.e., sets of proteins such that every protein is either in the DS or is a neighbor of the DS. Clearly, a DS has a TC role, as it enables efficient communication between different network parts. We find statistically significant enrichment in BC genes of TC nodes and outperform the existing methods indicating that genes involved in key biological processes occupy topologically complex and dense regions of the network and correspond to its "spine" that connects all other network parts and can thus pass cellular signals efficiently throughout the network. To our knowledge, this is the first study that explores domination in the context of PPI networks.

  17. Congenital syphilis surveillance

    Directory of Open Access Journals (Sweden)

    Antonella Marangoni

    2011-06-01

    Full Text Available Congenital syphilis (CS is mainly a consequence of the lack of antenatal care and control of sexually transmitted infections.The bedrock of the prevention of CS is syphilis diagnosis by serological screening during pregnancy.Current Italian guidelines suggest that all the pregnant women should be tested in the first trimester. Due to the frequently absence of specific signs of infection at birth, laboratory tests are often the only method for a correct CS diagnosis. The aim of this study was to evaluate the usefulness of Treponema pallidum IgM Western Blot (WB and Polymerase Chain Reaction (PCR on cerebrospinal fluid (CSF as an aid in the diagnosis of CS during a prospective surveillance study carried out at St. Orsola Hospital in Bologna, Italy, from November 2000 through June 2010. All pregnant women during pregnancy and at delivery were screened for syphilis by ARCHITECT® Syphilis TP, Abbott. Positive samples were further analysed by Treponema Pallidum Hemagglutination Test (TPHA and Rapid Plasma Reagin (RPR tests, Radim.An in-house Western Blot (WB was also performed. Infants born to syphilis seropositive mothers were enrolled in a prospective follow up. At birth, tests were performed (including IgM WB. Infants with positive RPR tests at birth born to mothers not adequately treated received also a long bone radiograph as well as a complete CSF analysis, including Veneral Disease Research Laboratori (VDRL (Siemens Healthcare Diagnostics and PCR testing. All seroreactive infants received careful follow up examinations and serological testing at 0, 3, 6, 9, 12 months or until the tests became negative. In this study, positive syphilis serology was noted in 151 pregnant women delivering in our hospital. Fifteen women had never been adequately treated, and 9 out 15 gave birth to infected newborns.All these 9 infants had positive IgM WB results on serum samples. Two babies had characteristic long bone lesions at X-ray examination and 3 were born

  18. Challenging Credit Dominance

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    @@ Europe's widening sovereign debt crisis has brought independent credit ratings to the forefront of the EU's agenda.To directly address the mat ter,the EU announced plans to set up a European creditrating authority for sovereign debt ratings on April 30.This marked a milestone in the international credit history,and the beginning of changes to U.S.-dominated international credit ratings and the pattern of international politics and economics,said Sun Zhe,Director of the Center for U.S.

  19. Congenital anomalies in Primorsky region.

    Science.gov (United States)

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

    According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

  20. What Is Coronary Heart Disease?

    Science.gov (United States)

    ... from the NHLBI on Twitter. What Is Coronary Heart Disease? Español Coronary heart disease (CHD) is a disease in which a waxy ... medical procedures can help prevent or treat coronary heart disease. These treatments may reduce the risk of related ...

  1. Nuclear cardiology and coronary surgery

    DEFF Research Database (Denmark)

    Eckardt, R.; Andersen, L.I.; Hesse, B.

    2008-01-01

    Rising age, repeated percutaneous coronary revascularizations, and co-morbidity such as overweight, diabetes, and hypertension, characterize a change over the last 20-30 years in coronary patients referred to coronary artery bypass grafting (CABG). This patient group represents a great part of to...

  2. Anomalous origin of the left coronary artery from the pulmonary artery: case report and review

    OpenAIRE

    Sandhu, K; Barron, D.; Jones, H.; Clift, P. (Peter); Thorne, S.; BUTLER, R.

    2016-01-01

    Anomalous origin of the left coronary artery from the pulmonary artery is a rare congenital condition that proves to be fatal in most individuals during childhood due to significant left ventricular ischaemia. However, there are case reports of individuals surviving into adulthood that have varying presenting symptoms. We report a case of a young male, who presented to our cardiology clinic with typical ischaemic cardiac pain, with no established risk factors, and was found to have anomalous ...

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

    Science.gov (United States)

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

    2009-04-01

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

  4. Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing

    OpenAIRE

    Jiang,Bo; chen, Yanhua; Baisheng XU; Hong, Nan; Liu, Rongrong; Qi, Ming; Shen, Liping

    2017-01-01

    Congenital cataract is both clinically diverse and genetically heterogeneous. To investigate the underlying genetic defect in three-generations of a Chinese family with autosomal dominant congenital cataracts, we recruited family members who underwent comprehensive ophthalmic examinations. A heterozygous missense mutation c.634G > C (p.G212R) substitution was identified in the MIP gene through target region capture sequencing. The prediction results of PolyPhen-2 and SIFT indicated that this ...

  5. Case Report: Coronary arterial spasm in single right coronary artery

    Institute of Scientific and Technical Information of China (English)

    En-zhi JIA; Qi-jun SHAN; Zhi-jian YANG; Tie-bing ZHU; Lian-sheng WANG; Ke-jiang CAO; Wen-zhu MA

    2009-01-01

    We presented a case of anomalous single-coronary artery detected incidentally during routine coronary angiography. A 32-year-old male Chinese patient presented with recurrent pre-syncope and six episodes of syncope. Coronary angiography and coronary-computed tomography (CT)-angiography performed by a dual-source computed tomography (DSCT) revealed that the patient had a single large right coronary artery. A moderately large branch originated from the proximal part of the single right coronary artery and extended to the left, passing the anterior to the pulmonary artery, and divided into the anterior descending artery branch and circumflex branch at the base of the left auricular appendage. The episodes of the syncope were suspected to be caused by coronary arterial spasm, so this patient was on a regimen of 30 mg of diltiazem every 6 h and had no recurrence of syncope during follow-up.

  6. Anomalous origin of right coronary artery from left coronary sinus.

    Science.gov (United States)

    Hamzeh, Gadah; Crespo, Alex; Estarán, Rafael; Rodríguez, Miguel A; Voces, Roberto; Aramendi, José I

    2008-08-01

    Anomalous aortic origin of the coronary arteries is uncommon but clinically significant. Manifestations vary from asymptomatic patients to those who present with angina pectoris, myocardial infarction, heart failure, syncope, arrhythmias, and sudden death. We describe 4 patients, aged 34 to 59 years, who were diagnosed with right coronary artery arising from the left sinus of Valsalva, confirmed by coronary angiography, which was surgically repaired. Three patients presented dyspnea and angina, and one with acute myocardial infarction. At operation, the right coronary artery was dissected at the take-off from the intramural course, and reimplanted into the right sinus of Valsalva. There was no mortality. One patient had associated coronary artery disease that required stent placement postoperatively. This reimplantation technique provides a good physiological and anatomical repair, eliminates a slit-like ostium, avoids compression of the coronary artery between the aorta and the pulmonary artery, and gives superior results to coronary artery bypass grafting or the unroofing technique.

  7. Coronary heart disease

    Institute of Scientific and Technical Information of China (English)

    1995-01-01

    950286 Percutaneous transluminal coronary angio-plasty for unstable angina.LIU Meilin(刘梅林),et.al.1st Teach Hosp,Beijing Med Univ,Beijing,100034.Chin J Intern Med 1995;34(3):169-172.Percutaneous transluminal coronary angioplasty(PTCA) was performed in 190 patients with 250 dis-eased vessels and 278 lesions from Dec.1987 to Feb.1994.All the patients had unstable angina (UA).There were 52(18.7%) type A lesions,175(62.9%)type B lesions and 51(18.3%) type C lesions.Of the

  8. Oral pathology case: congenital epulides

    OpenAIRE

    Amorim, J.

    2010-01-01

    A one month-old girl was referred to our department due a neoformation of the mandible. The excisional biopsy of the lesion revealed a congenital epulides of the newborn. This is an uncommon lesion, easy to diagnose, as it has a typical appearance and localisation. Surgical treatment is the option, namely when it impairs feeding, swallowing or breathing.

  9. [Genetics of congenital heart diseases].

    Science.gov (United States)

    Bonnet, Damien

    2017-06-01

    Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  10. Oral pathology case: congenital epulides

    OpenAIRE

    Amorim, J

    2010-01-01

    A one month-old girl was referred to our department due a neoformation of the mandible. The excisional biopsy of the lesion revealed a congenital epulides of the newborn. This is an uncommon lesion, easy to diagnose, as it has a typical appearance and localisation. Surgical treatment is the option, namely when it impairs feeding, swallowing or breathing.

  11. Prenatal diagnosis of congenital diseases

    NARCIS (Netherlands)

    M.F. Niermeijer (Martinus)

    1975-01-01

    textabstractPrenatal diagnosis of a number of congenital diseases is possible by amniocentesis in the 14th - 16th week of pregnancy and subsequent analysis of cultured amniotic fluid cells or amniotic fluid supernatant. Parents at risk for a child with a chromosomal disorder, an X-linked disease, a

  12. Congenital dacryocystocele: prenatal MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Yazici, Zeynep [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Uludag University, Department of Radiology, Faculty of Medicine, Bursa (Turkey); Kline-Fath, Beth M.; Rubio, Eva I.; Calvo-Garcia, Maria A.; Linam, Leann E. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Yazici, Bulent [Uludag University, Department of Ophthalmology, Faculty of Medicine, Bursa (Turkey)

    2010-12-15

    Congenital dacryocystocele can be diagnosed prenatally by imaging. Prenatal MRI is increasingly utilized for fetal diagnosis. To present the radiological and clinical features of seven fetuses with congenital dacryocystocele diagnosed with prenatal MRI. The institutional database of 1,028 consecutive prenatal MR examinations performed during a period of 4 years was reviewed retrospectively. The cases of congenital dacryocystocele were identified by reading the report of each MRI study. The incidence of dacryocystocele diagnosed with prenatal MRI was 0.7% (n=7/1,028). The dacryocystocele was bilateral in three fetuses. Mean gestational age at the time of diagnosis was 31 weeks. The indication for prenatal MRI was the presence or the suspicion of central nervous system abnormality in six fetuses and diaphragmatic hernia in one. Dacryocystocele was associated with an intranasal cyst in six of ten eyes. Prenatal sonography revealed dacryocystocele in only two of seven fetuses. Of eight eyes with postnatal follow-up, four did not have any lacrimal symptoms. Prenatal MRI can delineate congenital dacryocystocele more clearly and in a more detailed fashion than ultrasonography. Presence of dacryocystocele was symptomatic in only 50% of our patients, supporting that prenatal diagnosis of dacryocystocele might follow a benign course. (orig.)

  13. Embryology of congenital diaphragmatic hernia.

    Science.gov (United States)

    Kluth, D; Keijzer, R; Hertl, M; Tibboel, D

    1996-11-01

    It is still generally believed that the defect in congenital diaphragmatic hernia results from failure of the so-called pleuroperitoneal canals (PPCs) to close at the end of the embryonic period (8th gestational week). Furthermore, it is assumed that gut could enter the thoracic cavity through this defect, causing compression and finally hypoplasia of the lung. However, this sequence of embryological events has never been studied, and many details even of normal diaphragmatic development are still unknown. Using scanning electron microscopy and a new animal model of congenital diaphragmatic hernia (CDH), the nitrofen rat model, the normal embryology of the diaphragm was reinvestigated and, for the first time, the crucial developmental steps of congenital diaphragmatic hernia formation were studied. The basic results were: (1) In normal development, the PPCs are never wide enough to allow herniation of gut loops. (2) The formation of the defect happens in an early embryonic period. (3) The early ingrowth of liver through the defect is of major importance for the formation of CDH. In another set of experiments, the nitrofen rat model of congenital diaphragmatic hernias was used to study the cellular mechanisms involved during epithelial and mesenchymal growth and differentiation in normal and in abnormal lungs. These results, combined with selected culture techniques (eg, branching morphogenesis and epithelio-mesenchymal interaction) probably open new ways to a better understanding of the mechanisms that finally lead to an abnormal lung in CDH.

  14. Congenital Chagas disease: an update.

    Science.gov (United States)

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

    2015-05-01

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

  15. Congenital Chagas disease: an update

    Directory of Open Access Journals (Sweden)

    Yves Carlier

    2015-05-01

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

  16. 先天性非进展性常染色体显性遗传非综合症型耳聋家系临床表型特征分析%Phenotype characteristics of a Chinese family with congenital, stable, autosomal dominant non-syndromic sensorineural hearing loss

    Institute of Scientific and Technical Information of China (English)

    郭亿莲; 赖海彪; 袁慧军; 李征玥; 何琦; 孙一帆; 徐庆文; 周小军; 张丽娟; 王明松; 孔祥廉

    2011-01-01

    目的 一个连续三代的常染色体显性遗传先天性非进展性非综合症型耳聋家系的临床听力学特征及遗传规律.方法 对耳聋家系成员进行病史采集、体格检查、纯音测听、声导抗、听性脑干反应检测,其中一名患者进行颞骨CT扫描检查.绘制遗传图谱并进行遗传学特征分析.结果 该家系成员共计18人,耳聋患者11人,其中一例为氨基糖苷类药物致聋患者.该耳聋家系每代及男女均有发病,非药物致聋患者均表现为语前聋、平稳型、全频中度听力下降,听力曲线呈平坦型.结论 该家系遗传方式符合常染色体显性遗传规律,表现为全频中度感音神经性耳聋.该研究为下一步的致聋基因的定位与鉴定奠定了良好的工作基础.%Objective To study the phenotypes and genetic characteristics of a three-generation Chinese family with autosomal dominant inherited progressive nonsyndromic hearing loss. Methods Pedigree was drawn after the investigation. Eighteen family members were examined including detailed audiology tesing (pure tone assay, acoustic immittance testing and auditory brainstem response audiometry). One patient received temporal bone CT. Results This family was comprised of 18 members, of whom 11 were affected. One patient had a history of using aminoglycosides. The pattern of inheritance of this family was autosomal dominant based on the investigation information. The affected members showed pre-lingual, stable, bilateral moderate sensorineural hearing impairment involving all frequencies. The audiograms showed generally flat hearing loss. Conclusion Pedigree analysis suggests an autosomal dominant hereditary pattern in this family. The information from this study will facilitate linkage analysis and positional cloning for identifying the causative gene in this family.

  17. Percutaneous coronary intervention versus coronary-artery bypass grafting for severe coronary artery disease

    NARCIS (Netherlands)

    P.W.J.C. Serruys (Patrick); M-C. Morice (Marie-Claude); A.P. Kappetein (Arie Pieter); A. Colombo (Antonio); D.R. Holmes Jr (David); M.J. Mack (Michael); E. Stahle (Elisabeth); T.E. Feldman (Ted); M.J.B.M. van den Brand (Marcel); E.J. Bass (Eric); N. van Dyck (Nic); K. Leadly (Katrin); K.D. Dawkins (Keith); F.W. Mohr (Friedrich)

    2009-01-01

    textabstractBACKGROUND Percutaneous coronary intervention (PCI) involving drug-eluting stents is increasingly used to treat complex coronary artery disease, although coronary-artery bypass grafting (CABG) has been the treatment of choice historically. Our trial compared PCI and CABG for treating pat

  18. The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

    DEFF Research Database (Denmark)

    Hansen, Lars; Yao, Wenliang; Eiberg, Hans;

    2006-01-01

    "Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We...

  19. Rings dominate western Gulf

    Science.gov (United States)

    Vidal L., Francisco V.; Vidal L., Victor M. V.; Molero, José María Pérez

    Surface and deep circulation of the central and western Gulf of Mexico is controlled by interactions of rings of water pinched from the gulf's Loop Current. The discovery was made by Mexican oceanographers who are preparing a full-color, 8-volume oceanographic atlas of the gulf.Anticyclonic warm-core rings pinch off the Loop Current at a rate of about one to two per year, the scientists of the Grupo de Estudios Oceanográficos of the Instituto de Investigaciones Eléctricas (GEO-IIE) found. The rings migrate west until they collide with the continental shelf break of the western gulf, almost always between 22° and 23°N latitude. On their westward travel they transfer angular momentum and vorticity to the surrounding water, generating cyclonic circulations and vortex pairs that completely dominate the entire surface and deep circulation of the central and western gulf.

  20. Dominant modal decomposition method

    Science.gov (United States)

    Dombovari, Zoltan

    2017-03-01

    The paper deals with the automatic decomposition of experimental frequency response functions (FRF's) of mechanical structures. The decomposition of FRF's is based on the Green function representation of free vibratory systems. After the determination of the impulse dynamic subspace, the system matrix is formulated and the poles are calculated directly. By means of the corresponding eigenvectors, the contribution of each element of the impulse dynamic subspace is determined and the sufficient decomposition of the corresponding FRF is carried out. With the presented dominant modal decomposition (DMD) method, the mode shapes, the modal participation vectors and the modal scaling factors are identified using the decomposed FRF's. Analytical example is presented along with experimental case studies taken from machine tool industry.

  1. 心肌桥-壁冠状动脉的研究进展%Research Progress in Myocardial Bridge-Mural Coronary Artery

    Institute of Scientific and Technical Information of China (English)

    孙喜霞; 王照谦

    2012-01-01

    The myocardial bridge-mural coronary artery is a kind of congenital coronary anatomic variations. This article aimed to summarize the anatomy, physiology, clinical features, imaging diagnosis and clinical treatment of the myocardial bridge-mural coronary artery.%心肌桥—壁冠状动脉是一种常见的先天性冠状动脉解剖变异.本文对心肌桥-壁冠状动脉的解剖学、生理学、临床特点、影像学诊断以及临床治疗的进展进行综述.

  2. [Pregnancy and coronary artery dissection].

    Science.gov (United States)

    Martínez-Quintana, Efrén; Rodríguez-González, Fayna

    2015-01-01

    Acute myocardial infarction during pregnancy is associated with high maternal and fetal mortality. Coronary atherosclerosis is the most common cause due to an increase in the age of the patients and the association with cardiovascular risk factors such as smoking, hypertension, diabetes mellitus, preeclampsia, and the existence of family history of coronary disease. However, thrombosis, coronary dissection or coronary vasospasms are other causes that may justify it. We report the case of a 33 weeks pregnant first-time mother, without cardiovascular risk factors, who presented an acute coronary event in the context of atherosclerotic disease and coronary dissection after percutaneous coronary intervention. Copyright © 2014 Sociedad Española de Arteriosclerosis. Published by Elsevier España. All rights reserved.

  3. Does the quantitative assessment of coronary artery dimensions predict the physiologic significance of a coronary stenosis?

    NARCIS (Netherlands)

    F. Zijlstra (Felix); J.C.W. van Ommeren (Jan-Kees); J.H.C. Reiber (Johan); P.W.J.C. Serruys (Patrick)

    1987-01-01

    textabstractTo study the relationship between the quantitatively assessed coronary artery dimensions and the regional coronary flow reserve as measured by digital subtraction cineangiography, we investigated 17 coronary arteries with a single discrete proximal stenosis and 12 normal coronary

  4. Transradial artery coronary angioplasty.

    Science.gov (United States)

    Kiemeneij, F; Laarman, G J; de Melker, E

    1995-01-01

    This study explored the feasibility and safety of percutaneous coronary balloon angioplasty (PTCA) with miniaturized PTCA equipment via the radial artery. Coronary angioplasty (PTCA) via the femoral or brachial arteries may be associated with rare vascular complications such as bleeding and damage to the artery and adjacent structures. It was postulated that PTCA via the radial artery with miniaturized angioplasty equipment is feasible and that no major puncture site-related complications occur because hemostasis is obtained easily and because no major structures are near the radial artery. With double blood supply to the hand, radial artery occlusion is well tolerated. In 100 patients with collateral blood supply to the right hand, PTCA was attempted with 6F guiding catheters and rapid-exchange balloon catheters for exertional angina (87 patients) or nonexertional angina (13 patients). Angioplasty was attempted in 122 lesions (type A n = 67 [55%], Type B n = 37 [30%], and type C n = 18 [15%]). Pre- and post-PTCA computerized quantitative coronary analysis was performed. Radial artery function and structure were assessed clinically and with Doppler and two-dimensional ultrasound on the day of discharge. Coronary catheterization via the radial artery was successful in 94 patients (94%). The 6 remaining patients had successful PTCA via the femoral artery (n = 5) or the brachial artery (n = 1). Procedural success (120 of 122 lesions) was achieved in 92 patients (98%) via the radial artery and in 98 patients of the total study population.(ABSTRACT TRUNCATED AT 250 WORDS)

  5. [Acute coronary syndrome -- 2012].

    Science.gov (United States)

    Becker, Dávid; Merkely, Béla

    2012-12-23

    The acute coronary syndrome is the most severe form of coronary artery disease. It is an immediate threat of life and the mortality rate can be high without proper therapy and patient management. Based on the first ECG, two different forms can be distinguished: acute coronary syndrome with and without ST elevation. Besides adequate medication, management of these patients is an essential part of treatment. In case of ST elevation, coronarography and percutaneous coronary intervention is needed in general, within 24 hours from the onset of symptoms. When ST elevation is not detected on the ECG, individual ischemic risk factors and predictable mortality of the patient may define the necessity and the date of the invasive examination. The Hungarian hemodynamic laboratory network covers almost the whole country and, therefore, practically each patient may receive a state-of-the-art therapy. Although indicators of cardiovascular diseases are still prominent, the mortality rate of myocardial Infarction is decreasing in Hungary due to the well-organized invasive care.

  6. [Acute coronary syndrome suspicion in patient with left coronary artery arising from right coronary sinus].

    Science.gov (United States)

    Kern, Adam; Górny, Jerzy; Rzeszowski, Bartłomiej; Witkowska, Ewa; Wasilewski, Grzegorz

    2013-01-01

    We present a case of 73 year-old patient who underwent coronary angiography due to suspicion of acute coronary syndrome without persistent ST segment elevation. The angiographic result showed no lesions that could cause recurrent chest pain,but it also revealed a seldom coronary artery abnormality - left coronary artery arising from right coronary sinus. Performed computed tomography of the chest confirmed the result of the coronarography. But apart from that it found the signs of neoplastic disease which was probably responsible for clinical presentation.

  7. Congenital heart defects in two siblings in an Axenfeld-Rieger syndrome family.

    Science.gov (United States)

    Akkus, Mehmet Necdet; Argin, Atilla

    2010-04-01

    Axenfeld-Rieger syndrome is a genetically heterogeneous, autosomal dominant disorder characterized by anomalies of the anterior segment of the eye, face, teeth, and umbilicus. Many other extraocular findings, including congenital heart defects, have been reported in association with this syndrome. It has been suggested by some investigators that the coexistence of Axenfeld-Rieger syndrome and congenital heart defects is not a chance event but it represents a distinct entity. We report a family in which four members in three generations have typical ocular features of Axenfeld-Rieger syndrome. Two of them, who are siblings, also have congenital heart defects. The congenital heart defect was bicuspid aortic valve anomaly with severe stenosis and mild regurgitation in one sibling and ostium secundum atrial septal defect in the other. To our knowledge, the combination of congenital heart defects with Axenfeld-Rieger syndrome in siblings has not been reported previously. Our observation further strengthens the notion that Axenfeld-Rieger syndrome associated with congenital heart defects is not a chance event.

  8. 64-multyslice computed tomography: detection of coronary artery disease in patients with ischemic heart disease

    Directory of Open Access Journals (Sweden)

    A. S. Nikonenko

    2015-02-01

    Full Text Available At present time, the death rate from cardiovascular disease occupies leading position in the structure of total mortality worldwide. The opportunity to conduct non-invasive studies of the coronary arteries has appeared through the development and implementation of multislice computed tomography (MSCT into medical practice, which carry 64 or more sections. Aim. The purpose of this research is the identification of diagnostic capabilities of 64-slice MSCT in the verification of the severity of coronary artery lesions in patients with proven coronary artery disease. Methods and results. The study has been conducted on a 64-slice CT scanner Optima 660 (GE, USA. The degree of stenosis and calcification of the coronary arteries and also central hemodynamics have been studied. The analysis of survey results of 65 patients with coronary heart disease (30.8% of patients had a history of myocardial infarction has been carried out. The average age of patients in observation group was 60.2 ± 10.56 years. Male patients were dominated (75.4%. According to the 64-slice MSCT it has been found that coronary artery stenosis occurs ≥ 50% in 90.0% of patients with myocardial infarction, and in 32.5% of patients with symptomatic coronary artery disease. Conclusion. Therefore, MSCT has sufficient specificity in the diagnosis of occlusive and stenotic lesions of the coronary arteries, and can be used for screening patients with suspected coronary artery disease.

  9. Echocardiographic prediction of the site of coronary artery obstruction in acute myocardial infarction.

    Science.gov (United States)

    Pierard, L A; Sprynger, M; Carlier, J

    1987-02-01

    In 49 patients with acute myocardial infarction (AMI), the infarction topography was assessed by cross-sectional echocardiography and the location of coronary artery obstruction were correlated. A ventricular segmentation of 5 right and 16 left ventricular segments was used. The site of coronary obstruction was determined in 45 patients by coronary angiography and by necropsy in 4 patients. The exact location of the obstruction could not be found in 4 patients. The infarct related vessel was the left main artery in 1 patient, the left anterior descending artery (LAD) in 19, the left circumflex in 6 and the right coronary artery in 24. Specific segments were identified for each of the 3 coronary arteries: anteroseptal and anterior segments for LAD, right ventricular segments for the right coronary artery and basal anterolateral segment for the left circumflex. Specific segments (specificity 100%) were also identified for the principal coronary branches: basal anterior for the first anterior descending diagonal (sensitivity 71%), basal anteroseptal for the first septal perforator (83%), middle anterior for the second diagonal (100%), middle anteroseptal for the second septal (89%), basal posteroseptal for a dominant right coronary artery (89%), right ventricular anterolateral segment for the right ventricular marginal branch (83%). Echocardiographic identification of the topography of AMI can be useful in recognizing the infarct-related vessel and identifying the site of coronary artery obstruction.

  10. Impact of coronary tortuosity on coronary pressure: numerical simulation study.

    Directory of Open Access Journals (Sweden)

    Yang Li

    Full Text Available BACKGROUND: Coronary tortuosity (CT is a common coronary angiographic finding. Whether CT leads to an apparent reduction in coronary pressure distal to the tortuous segment of the coronary artery is still unknown. The purpose of this study is to determine the impact of CT on coronary pressure distribution by numerical simulation. METHODS: 21 idealized models were created to investigate the influence of coronary tortuosity angle (CTA and coronary tortuosity number (CTN on coronary pressure distribution. A 2D incompressible Newtonian flow was assumed and the computational simulation was performed using finite volume method. CTA of 30°, 60°, 90°, 120° and CTN of 0, 1, 2, 3, 4, 5 were discussed under both steady and pulsatile conditions, and the changes of outlet pressure and inlet velocity during the cardiac cycle were considered. RESULTS: Coronary pressure distribution was affected both by CTA and CTN. We found that the pressure drop between the start and the end of the CT segment decreased with CTA, and the length of the CT segment also declined with CTA. An increase in CTN resulted in an increase in the pressure drop. CONCLUSIONS: Compared to no-CT, CT can results in more decrease of coronary blood pressure in dependence on the severity of tortuosity and severe CT may cause myocardial ischemia.

  11. Safety and efficacy of coronary drug eluting stent for atherosclerotic stenosis of the small renal artery

    Institute of Scientific and Technical Information of China (English)

    LI Chun-jie; WU Zheng; YAN Hong-bing; WANG Jian; ZHAO Han-jun

    2009-01-01

    @@ Small diameter renal artery refers to the renal artery with the cross-section diameter less than 5 mm, the incidence of which is approximately 8%.1 Small diameter renal artery is common in patients with congenital multi-branch renal arteries, diabetes and multi-coronary artery lesions. Renal artery bare-mental stent (BMS) implantation is the standard treatment for ostial renal artery stenosis.2,3 However, the restenosis rate4-6 is too high and becomes one of the relative contraindications for small diameter renal artery stent implantation. Clinical trials (e.g. RAVEL,7,8 SIRIUS9 and TAXUS-IV10) have proved that drug eluting stent (DES), compared with BMS, can reduce the restenosis rate after the percutanous coronary intervention (PCI). And Huda et al11 claimed that DES had the better results than BMS in the treatment of obstructive superficial femoral artery disease. However,there are few studies involved restenosis after the renal artery intervention. We hypothesized that coronary DES applied in renal artery stenosis might inhibit intimal proliferation effectively as in coronary artery disease;therefore we evaluated the results of 25 patients with atherosclerotic renal artery stenosis treated using coronary DES to assess the safety and efficacy of coronary DES in patients with small renal artery stenotic lesions.

  12. [Congenital nephrogenic diabetes insipidus].

    Science.gov (United States)

    Morin, D; Delenne, A L; Kervran, A

    2005-01-01

    Nephrogenic diabetes insipidus is a rare hereditary disease, characterized by a resistance of the renal collecting duct to the action of the antidiuretic hormone, arginine vasopressin, responsible for the inability of the kidney to concentrate urine. More than 90% of the patients are males and have the X-linked recessive form of the disease usually presenting with polyuria and polydipsia in infancy. This mode of inheritance is related to mutations in the V(2) receptor gene, located in the Xq28 chromosomal region. Less than 10% of the patients have an autosomal-recessive or an autosomal-dominant mode of inheritance with clinical manifestations occurring in males and females, related to mutations in the aquaporin-2 gene, located in chromosome region 12q13. The aim of the treatment is to avoid chronic and acute dehydration episodes. It remains symptomatic, mainly based on an hypoosmotic diet and the use of hydrochlorothiazide and indomethacin. Recent findings showed that pharmacological chaperones, such as V(2) nonpeptide antagonists, are able to rescue some of the V(2) receptor mutants and could be useful tools for treatment in the future.

  13. Onset dominance in lateralization.

    Science.gov (United States)

    Freyman, R L; Zurek, P M; Balakrishnan, U; Chiang, Y C

    1997-03-01

    Saberi and Perrott [Acustica 81, 272-275 (1995)] found that the in-head lateralization of a relatively long-duration pulse train could be controlled by the interaural delay of the single pulse pair that occurs at onset. The present study examined this further, using an acoustic pointer measure of lateralization, with stimulus manipulations designed to determine conditions under which lateralization was consistent with the interaural onset delay. The present stimuli were wideband pulse trains, noise-burst trains, and inharmonic complexes, 250 ms in duration, chosen for the ease with which interaural delays and correlations of select temporal segments of the stimulus could be manipulated. The stimulus factors studied were the periodicity of the ongoing part of the signal as well as the multiplicity and ambiguity of interaural delays. The results, in general, showed that the interaural onset delay controlled lateralization when the steady state binaural cues were relatively weak, either because the spectral components were only sparsely distributed across frequency or because the interaural time delays were ambiguous. Onset dominance can be disrupted by sudden stimulus changes within the train, and several examples of such changes are described. Individual subjects showed strong left-right asymmetries in onset effectiveness. The results have implications for understanding how onset and ongoing interaural delay cues contribute to the location estimates formed by the binaural auditory system.

  14. CT coronary angiography vs. invasive coronary angiography in CHD

    Directory of Open Access Journals (Sweden)

    Anja Hagen

    2012-04-01

    Full Text Available Scientific background: Various diagnostic tests including conventional invasive coronary angiography and non-invasive computed tomography (CT coronary angiography are used in the diagnosis of coronary heart disease (CHD. Research questions: The present report aims to evaluate the clinical efficacy, diagnostic accuracy, prognostic value cost-effectiveness as well as the ethical, social and legal implications of CT coronary angiography versus invasive coronary angiography in the diagnosis of CHD. Methods: A systematic literature search was conducted in electronic data bases (MEDLINE, EMBASE etc. in October 2010 and was completed with a manual search. The literature search was restricted to articles published from 2006 in German or English. Two independent reviewers were involved in the selection of the relevant publications. The medical evaluation was based on systematic reviews of diagnostic studies with invasive coronary angiography as the reference standard and on diagnostic studies with intracoronary pressure measurement as the reference standard. Study results were combined in a meta-analysis with 95 % confidence intervals (CI. Additionally, data on radiation doses from current non-systematic reviews were taken into account. A health economic evaluation was performed by modelling from the social perspective with clinical assumptions derived from the meta-analysis and economic assumptions derived from contemporary German sources. Data on special indications (bypass or in-stent-restenosis were not included in the evaluation. Only data obtained using CT scanners with at least 64 slices were considered. Results: No studies were found regarding the clinical efficacy or prognostic value of CT coronary angiography versus conventional invasive coronary angiography in the diagnosis of CHD. Overall, 15 systematic reviews with data from 44 diagnostic studies using invasive coronary angiography as the reference standard (identification of obstructive

  15. Partial sternotomy coronary surgery with triple-vessel disease in dextrocardia and situs inversus totalis.

    Science.gov (United States)

    Su, Pi Xiong; Gu, Song; Liu, Yan; Gao, Jie

    2013-07-01

    Dextrocardia associated with situs inversus totalis is a rare congenital condition. A small number of cases with these conditions have been reported who underwent myocardial revascularization via the on-pump or off-pump techniques. Among them, only 1 patient with dextrocardia and situs inversus totalis was reported to have the procedure performed with minimally invasive coronary surgery via a right anterior small thoracotomy. However, the case was a single-vessel disease and only one graft was achieved. We describe the case of a 65-year old female patient with triple-vessel obstructive coronary diseases who was successfully revascularized with three grafts using a minimally invasive technique. This was achieved via partial sternotomy and employing off-pump coronary artery bypass grafting.

  16. Transcatheter closure of a giant coronary artery fistula with patent duct occluder

    Institute of Scientific and Technical Information of China (English)

    ZHOU Tao; SHEN Xiang-qian; FANG Zhen-fei; ZHOU Sheng-hua; QI Shu-shan; L(U) Xiao-ling

    2006-01-01

    @@ Coronary artery fistula (CAF), an uncommon form of congenital heart disease, is characterized by abnormal communication between a coronary artery and a cardiac chamber or vessel.1 This disease is often found incidentally in asymptomatic individuals,and leads to cardiac failure, myocardial ischemia and angina, infective endocarditis, and heart rupture in later life. Both surgical repair and transcatheter closure were effective and safe in the treatment of CAF,2 but percutaneous management of CAF can obviate median sternotomy and cardiopulmonary bypass, and there may be less morbidity with transcatheter embolization techniques,3,4 including the use of occluders or microcoils. We report a successful percutaneous closure of a giant CAF from the left coronary artery to the right ventricle using patent duct occluder.

  17. Congenital rubella with agenesis of the inferior cerebellar vermis and total anomalous pulmonary venous drainage.

    Science.gov (United States)

    Cluver, C; Meyer, R; Odendaal, H; Geerts, L

    2013-08-01

    Congenital rubella infection has been associated with a number of abnormalities including cardiac, central nervous system and placental complications. We present a case with multiple fetal abnormalities detected on prenatal ultrasound, and confirmed postnatally, that included a single umbilical artery, severe tricuspid regurgitation, micrognathia and agenesis of the inferior cerebellar vermis. Postnatal echocardiography additionally revealed unobstructed total anomalous pulmonary venous drainage (TAPVD) into the coronary sinus. Placental examination showed signs of placentitis, and polymerase chain reaction on neonatal serum was positive for rubella. Following a multidisciplinary team review, it was decided to provide only supportive care, and the infant died at 6 months of age owing to a respiratory tract infection. To our knowledge, TAPVD and agenesis of the inferior cerebellar vermis have not been reported previously in association with congenital rubella infection. This case illustrates how congenital infection may present in atypical ways and stresses the importance of considering congenital infection in the differential diagnosis of fetal anomalies when multiple features are present.

  18. Cardiac Resynchronization Therapy Device Implantation in a Patient with Congenitally Corrected Transposition of Great Vessels

    Directory of Open Access Journals (Sweden)

    Reza Mollazadeh

    2017-03-01

    Full Text Available A 29-year-old woman was referred to our hospital due to exacerbation in dyspnea on exertion and easy fatigability. A known case of congenitally corrected transposition of the great vessels and congenital complete heart block, she had already received a permanent single-chamber pacemaker. Decision was made to implant a biventricular pacemaker for the treatment of the failing heart. Excellent coronary sinus lead implantation was done, conferring amelioration of symptoms, QRS narrowing in the electrocardiogram, and improvement of systemic ventricular systolic function in echocardiography. Over a 15-month follow-up period, she had no dyspnea on exertion. This case highlights the significance of upgrading pacemakers in patients with heart failure.

  19. Angiography and coronary function, a clinical approach

    NARCIS (Netherlands)

    Stoel, Martin Gerrit

    2013-01-01

    Coronary angiography has the potential to determine coronary function in addition to merely showing coronary anatomy. In this thesis, we describe several facets of angiographic evaluation of coronary flow velocity and function. Measurement of the length of the coronary vessels by means of a guide

  20. Guadalajara camptodactyly type III: a new probably autosomal dominant syndrome.

    Science.gov (United States)

    Figuera, L E; Ramírez-Dueñas, M L; Dávalos, I P; Cantú, J M

    2002-10-01

    A Mexican family is presented with the main clinical features of camptodactyly, a distinctive facial appearance because of ocular hypertelorism, telecanthus, symblepharon and spinal defects. Other clinical manifestations included: multiple nevi, simplified ears, retrognathia, congenital shortness of the sternocleidomastoid muscle, thin hands and feet, a small penis and mild mental retardation. Radiographic studies revealed spina bifida occulta at cervical and dorso-lumbar levels, increased bone trabeculae, cortical thickening and delayed bone age. The presence of five affected members through four generations suggests autosomal dominant inheritance although no male-to-male transmission was documented. The authors propose this as a new entity, and have designated it Guadalajara camptodactyly type III.

  1. Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) presenting with ventricular fibrillation in an adult: a case report

    DEFF Research Database (Denmark)

    Kristensen, T.; Kofoed, Klaus Fuglsang; Helqvist, S.;

    2008-01-01

    Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly. The usual clinical course is severe left sided heart failure and mitral valve insufficiency presenting during the first months of life. However, in some cases collateral blood supply from...... the right coronary artery is sufficient and symptoms may be subtle or even absent. Arrhythmias or sudden cardiac death in adult life may be the first clinical presentation in patients with ALCAPA. We report a case, where a 39-year old woman presented with ventricular fibrillation during phycial exertion....... Coronary angiography and CT-angiography revealed an anomalous origin of the left coronary artery, and an aortic reimplantation of the left coronary artery was performed followed by ICD implantation. A review of the literature on ALCAPA is presented along with CT images before and after surgery...

  2. Familial congenital bilateral vocal fold paralysis: a novel gene translocation.

    Science.gov (United States)

    Hsu, Amy K; Rosow, David E; Wallerstein, Robert J; April, Max M

    2015-03-01

    True vocal fold (TVF) paralysis is a common cause of neonatal stridor and airway obstruction, though bilateral TVF paralysis is seen less frequently. Rare cases of familial congenital TVF paralysis have been described with implied genetic origin, but few genetic abnormalities have been discovered to date. The purpose of this study is to describe a novel chromosomal translocation responsible for congenital bilateral TVF immobility. The charts of three patients were retrospectively reviewed: a 35 year-old woman and her two children. The mother had bilateral TVF paralysis at birth requiring tracheotomy. Her oldest child had a similar presentation at birth and also required tracheotomy, while the younger child had laryngomalacia without TVF paralysis. Standard karyotype analysis was done using samples from all three patients and the parents of the mother, to assess whether a chromosomal abnormality was responsible. Karyotype analysis revealed the same balanced translocation between chromosomes 5 and 14, t(5;14) (p15.3, q11.2) in the mother and her two daughters. No other genetic abnormalities were identified. Neither maternal grandparent had the translocation, which appeared to be a spontaneous mutation in the mother with autosomal dominant inheritance and variable penetrance. A novel chromosomal translocation was identified that appears to be responsible for familial congenital bilateral TVF paralysis. While there are other reports of genetic abnormalities responsible for this condition, we believe this is the first describing this particular translocation. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  3. Genetic basis of congenital erythrocytosis: mutation update and online databases.

    Science.gov (United States)

    Bento, Celeste; Percy, Melanie J; Gardie, Betty; Maia, Tabita Magalhães; van Wijk, Richard; Perrotta, Silverio; Della Ragione, Fulvio; Almeida, Helena; Rossi, Cedric; Girodon, François; Aström, Maria; Neumann, Drorit; Schnittger, Susanne; Landin, Britta; Minkov, Milen; Randi, Maria Luigia; Richard, Stéphane; Casadevall, Nicole; Vainchenker, William; Rives, Susana; Hermouet, Sylvie; Ribeiro, M Leticia; McMullin, Mary Frances; Cario, Holger; Chauveau, Aurelie; Gimenez-Roqueplo, Anne-Paule; Bressac-de-Paillerets, Brigitte; Altindirek, Didem; Lorenzo, Felipe; Lambert, Frederic; Dan, Harlev; Gad-Lapiteau, Sophie; Catarina Oliveira, Ana; Rossi, Cédric; Fraga, Cristina; Taradin, Gennadiy; Martin-Nuñez, Guillermo; Vitória, Helena; Diaz Aguado, Herrera; Palmblad, Jan; Vidán, Julia; Relvas, Luis; Ribeiro, Maria Leticia; Luigi Larocca, Maria; Luigia Randi, Maria; Pedro Silveira, Maria; Percy, Melanie; Gross, Mor; Marques da Costa, Ricardo; Beshara, Soheir; Ben-Ami, Tal; Ugo, Valérie

    2014-01-01

    Congenital erythrocytosis (CE), or congenital polycythemia, represents a rare and heterogeneous clinical entity. It is caused by deregulated red blood cell production where erythrocyte overproduction results in elevated hemoglobin and hematocrit levels. Primary congenital familial erythrocytosis is associated with low erythropoietin (Epo) levels and results from mutations in the Epo receptor gene (EPOR). Secondary CE arises from conditions causing tissue hypoxia and results in increased Epo production. These include hemoglobin variants with increased affinity for oxygen (HBB, HBA mutations), decreased production of 2,3-bisphosphoglycerate due to BPGM mutations, or mutations in the genes involved in the hypoxia sensing pathway (VHL, EPAS1, and EGLN1). Depending on the affected gene, CE can be inherited either in an autosomal dominant or recessive mode, with sporadic cases arising de novo. Despite recent important discoveries in the molecular pathogenesis of CE, the molecular causes remain to be identified in about 70% of the patients. With the objective of collecting all the published and unpublished cases of CE the COST action MPN&MPNr-Euronet developed a comprehensive Internet-based database focusing on the registration of clinical history, hematological, biochemical, and molecular data (http://www.erythrocytosis.org/). In addition, unreported mutations are also curated in the corresponding Leiden Open Variation Database.

  4. The dominance of norm

    Directory of Open Access Journals (Sweden)

    Edward L. Rubin

    2017-06-01

    Full Text Available Objective to revisit the debate about rational choice theory from the legal cultural and historical perspectives. Methods dialectic approach to the cognition of social phenomena allowing to analyze them in their historical development and functioning in the context of the integrity of subjective and objective factors this determines the choice of the research methods systemicstructural formallegal and comparative. Results The first part of this chapter will explain the way in which people in societies different from our own were subject to other motivations in situations where selfinterest would tend to dominate in our society. The reasoning is based on three examples one drawn from the history of Ancient Rome one from the High Middle Ages of the European society and one from a contemporary nonWestern culture. The second part of the chapter analyzes the reason why material selfinterest maximizing became a dominant motivation in the modern Western society. The works on historical sociology attribute this development to Calvinism but this hypothesis suffers from some serious defects. In the article we prove that the modern sensibility resulted from much longeracting trends specifically secularization urbanization and commercialization. The final section of the chapter explores the relationship between the Westrsquos prevailing norm of selfinterest maximization and the particular norms that have been discussed in microeconomic theory. It argues that some of these norms are internal to the prevailing one and are thus explicable in terms of material selfinterest but that others reflect additional norms in the general society that exist alongside and sometimes in competition with the prevailing norm of selfinterest maximization. The historicallybased view that selfinterest maximizing is a prevailing norm rather than a human universal allows these other norms to be acknowledged in a plausible and realistic manner rather than being explained away by a

  5. Congenital absence of uterine cervix

    Directory of Open Access Journals (Sweden)

    Selvaraj Ravi Lakshmy

    2016-10-01

    Full Text Available Cervical agenesis or dysgenesis is an extremely rare congenital anomaly. Patients with congenital absence of the cervix present with primary amenorrhea and infertility. Though it poses a diagnostic challenge to the clinician, correct diagnosis prior to surgery is possible with the help of ultrasound. Early diagnosis offers significant advantages in patient care and effective presurgical planning. This case report reviews two cases of cervical agenesis diagnosed with the help of ultrasound and later confirmed with the help of MRI. Ultrasonography is the modality of choice to define the internal genital anatomy and helps us to classify the level of obstruction or aplasia in obstructive uterine anomalies. [Int J Reprod Contracept Obstet Gynecol 2016; 5(10.000: 3634-3636

  6. Congenital myotonia in related kittens.

    Science.gov (United States)

    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.

  7. [Radiological evaluation of congenital tumors].

    Science.gov (United States)

    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.

  8. Congenital syphilis: The continuing scourge.

    Science.gov (United States)

    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.

  9. Congenital Absence of the Pericardium.

    Science.gov (United States)

    Lopez, David; Asher, Craig R

    Congenital absence of the pericardium (CAP) is one of the rarest cardiac congenital anomalies. It can occur as a complete absence of the entire pericardium, absence of the right or left portion of the pericardium or a partial, foramen-like defect of the right or left pericardium. While the majority of cases are clinically silent, multiple reports associate CAP with symptomatic presentation. The most feared complication of CAP is sudden death due to cardiac strangulation across a partial defect of the left pericardium. Given its rare occurrence, most clinicians and imaging specialists will have little experience with this condition and may fail to recognize it on thoracic or cardiac studies. Thus, the purpose of this review is to highlight the common clinical and multimodality imaging features associated with this anomaly and suggest a management algorithm. Copyright © 2016. Published by Elsevier Inc.

  10. Prenatal education for congenital toxoplasmosis.

    Science.gov (United States)

    Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

    2015-10-23

    Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 May 2015), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials of all types of prenatal education on toxoplasmosis infection during pregnancy. Cluster-randomized trials were eligible for inclusion. Two review authors independently assessed trials for inclusion and risk of bias, extracted data and checked them for accuracy. Two cluster-randomized controlled trials (RCTs) (involving a total of 5455 women) met the inclusion criteria. The two included trials measured the effectiveness of the intervention in different ways, which meant that meta-analysis of the results was not possible. The overall quality of the two studies, as assessed using the GRADE approach, was low, with high risk of detection and attrition bias in both included trials.One trial (432 women enrolled) conducted in Canada was judged of low methodological quality. This trial did not report on any of the review's pre-specified primary outcomes and the secondary outcomes reported results only as P values. Moreover, losses to follow-up were high (34%, 147 out of 432 women initially enrolled). The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. The second trial conducted in France was also judged of low methodological quality. Losses to follow-up were also high (44.5%, 2233 out of 5023 women initially enrolled) and differential (40% in the intervention group and 52% in the control group). The authors concluded that prenatal education for congenital toxoplasmoses has a

  11. [Congenital ranula in a newborn].

    Science.gov (United States)

    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.

  12. Congenital hypopituitarism and renal failure

    Directory of Open Access Journals (Sweden)

    Gaurav Atreja

    2011-01-01

    Full Text Available Congenital hypopituitarism is potentially fatal in the newborn period but treatable if the diagnosis is made early. We report a neonate who presented with hypothermia and severe hypoglycemia. He also had undescended testis and micropenis. Initial screening revealed panhypopituitarism, which was corrected promptly. He developed renal failure due to initial cardiovascular compromise related to hypotension but recovered quickly with standard management. Magnetic resonance imaging revealed absent stalk of anterior pituitary.

  13. Congenital deficiency of factor VII.

    Science.gov (United States)

    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.

  14. Laboratory Diagnosis of Congenital Toxoplasmosis

    OpenAIRE

    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 ...

  15. Clinicobacteriological Significance in Congenital Dacryocystitis

    Directory of Open Access Journals (Sweden)

    Bhavna Raina, Sudhir Bhagotra

    2010-10-01

    Full Text Available In the present study, 37 eyes of 30 congenital dacryocystitis patients (7 bilateral were studied, out ofwhich 60% of patients were male and 40% female. Gram positive cocci constituted the major bacterialisolate (56.7% with Streptococcus pneumoniae (27.9% predominating. Most effective antibiotics againstthe commonest organism Streptococcus pneumoniae were Tobramycin and Gentamycin showing 100%effectivity. Staphylococcus albus 17.4% was the most common normal conjunctival commensal isolated.

  16. CONGENITAL PSEUDARTHROSIS OF THE CLAVICLE

    OpenAIRE

    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 ac...

  17. Syndromes with congenital brittle bones

    Directory of Open Access Journals (Sweden)

    Plotkin Horacio

    2004-08-01

    Full Text Available Abstract Background There is no clear definition of osteogenesis imperfecta (OI. The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI. Discussion A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in "OI" (those secondary to mutations in the type I pro-collagen genes, and "syndromes resembling OI" (those secondary to mutations other that the type I pro-collagen genes, identified or not. A definition for OI is proposed as a syndrome of congenital brittle bones secondary to mutations in the genes codifying for pro-collagen genes (COL1A1 and COL1A2. Summary A debate about the definition of OI and a possible clinical and prognostic classification are warranted.

  18. Congenital Portosystemic Shunt: Our Experience

    Directory of Open Access Journals (Sweden)

    Tiziana Timpanaro

    2015-01-01

    Full Text Available 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.

  19. Treacher Collins syndrome with multiple congenital heart defects after paroxetine exposure: case report.

    Science.gov (United States)

    Dinlen, N; Zenciroğlu, A; Dilli, D; Aydin, B; Beken, S; Okumuş, N

    2014-01-01

    Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development with an incidence of I in 40,000 to in 70,000 live births. It is characterized by abnormalities of the pinnae which are frequently associated with atresia of the external auditory canals and anomalies of the middle ear ossicles. Rarely congenital heart defects can be present. Prenatal paroxetine exposure may enhance the risks of major malformation, particularly cardiac defects. This article reports a newborn, whose mother used paroxetine during pregnancy, presenting with multiple congenital heart defects associated to typical physical characteristics of Treacher Collins syndrome.

  20. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

    Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie

    2014-01-01

    congenital anomaly, 13.9% had a chromosomal anomaly and 7.7% were multiple congenital anomalies. The combined foetal and infant mortality in the study area was 11.6 per 1,000 births. 19% (2.2 per 1,000) of these deaths were foetuses and infants with major congenital anomalies. Combined foetal and infant......INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995......-2008. The registry covers live births, foetal deaths with a gestational age (GA) of 20 weeks or more, and terminations of pregnancy due to congenital anomalies (TOPFA). RESULTS: The overall prevalence of congenital anomalies was 2.70% (95% confidence interval: 2.58-2.80). The majority of cases had an isolated...

  1. The fate of nephrons in congenital and heritable renal disorders

    Directory of Open Access Journals (Sweden)

    Robert L. Chevalier

    2013-06-01

    Full Text Available Most chronic kidney disease in infants and children results from congenital anomalies of the kidneys and urinary tract, including obstructive nephropathy. Although less common, inherited disorders such as polycystic kidney disease (PKD and cystinosis also lead to progressive tubular injury and nephron loss. At the present time, therapies to slow progression of kidney disease are mainly directed renal interstitial fibrosis, a final common pathway. To target earlier events in congenital renal disorders, we have investigated in animal models the response of the renal proximal tubule, which appears to be particularly susceptible to injury. Unilateral ureteral obstruction (UUO causes marked oxidative stress and rapid death of proximal tubular cells in the adult mouse, leading to the formation of atubular glomeruli. This occurs also following UUO in the neonate (during completion of nephrogenesis, but tubular cell death is delayed until proximal tubular mitochondrial maturation is complete. In the pcy mutant mouse, a model of autosomal dominant PKD, tubular cysts develop in the neonatal period, and progressively enlarge, eventually causing obstruction of neighboring nephrons and formation of atubular glomeruli. In the ctns mutant mouse with nephropathic cystinosis, injury results from accumulation of cystine crystals. This results in oxidative stress and stimulates flattening (rather than death of proximal tubular cells (“swan neck deformity”, and onset of the Fanconi syndrome. Progression to severe proximal tubular atrophy and formation of atubular glomeruli develops in later adult life. These studies suggest that early treatment of congenital renal disorders should target protection of proximal tubules from oxidative injury. We are currently investigating the use of antioxidants that are selectively concentrated in mitochondria. Since children with congenital renal disorders are born with a reduced nephron number (which cannot be regenerated

  2. Congenital pseudoarthrosis associated with venous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)

    2007-06-15

    Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

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

    Science.gov (United States)

    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.

  4. Congenital Pseudoarthrosis of the Tibia: Case Reports

    Directory of Open Access Journals (Sweden)

    Mehmet Bulut

    2014-03-01

    Full Text Available Congenital pseudoarthrosis of the tibia is rarely seen disease which is very difficult to treat. Congenital pseudoarthrosis of the tibia is frequently seen together with neurofibromatosis. Especially according to Boyd classification, type II and V are in the high risk group. In this study, we presented the treatment result of the three years old male patient with type V congenital pseudoarthrosis of the tibia.

  5. Association of coronary to left ventricular microfistulae (vessels of Wearn) with atrial septal defect in an adult without cyanotic heart disease.

    Science.gov (United States)

    Hussain, Munem; Roberts, Elved Bryn

    2015-07-02

    Vessels of Wearn are rare findings during coronary angiography in adults. They are known to be associated with forms of cyanotic congenital heart disease in infants but we are not aware of any published cases of association with non-cyanotic left to right shunts in adults. We present the case of a 69-year-old man with angiographically evident vessels of Wearn draining from the left and right coronary arteries into the left ventricle associated with an asymptomatic atrial septal defect. We postulate a developmental phase association between atrial septal maturation and closure of perfusing microchannels from the ventricular cavities to the epicardial coronary arteries on the same spectrum as that which leads to more widespread defects in infants. We also highlight a common medication side effect that might have been mistaken as a manifestation of the congenital anomalies.

  6. Spontaneous Coronary Artery Dissection.

    Science.gov (United States)

    Tweet, Marysia S; Gulati, Rajiv; Hayes, Sharonne N

    2016-07-01

    Spontaneous coronary artery dissection is an important etiology of nonatherosclerotic acute coronary syndrome, myocardial infarction, and sudden death. Innovations in the catheterization laboratory including optical coherence tomography and intravascular ultrasound have enhanced the ability to visualize intimal disruption and intramural hematoma associated with SCAD. Formerly considered "rare," these technological advances and heightened awareness suggest that SCAD is more prevalent than prior estimates. SCAD is associated with female sex, young age, extreme emotional stress, or extreme exertion, pregnancy, and fibromuscular dysplasia. The clinical characteristics and management strategies of SCAD patients are different than for atherosclerotic heart disease and deserve specific consideration. This review will highlight recent discoveries about SCAD as well as describe current efforts to elucidate remaining gaps in knowledge.

  7. On Dominator Colorings in Graphs

    Indian Academy of Sciences (India)

    S Arumugam; Jay Bagga; K Raja Chandrasekar

    2012-11-01

    A dominator coloring of a graph is a proper coloring of in which every vertex dominates every vertex of at least one color class. The minimum number of colors required for a dominator coloring of is called the dominator chromatic number of and is denoted by $ d(G)$. In this paper we present several results on graphs with $ d(G)=(G)$ and $ d(G)=(G)$ where $(G)$ and $(G)$ denote respectively the chromatic number and the domination number of a graph . We also prove that if $(G)$ is the Mycielskian of , then $ d(G)+1≤ d((G))≤ d(G)+2$.

  8. Multidetector CT for congenital heart patients: what a paediatric radiologist should know

    Energy Technology Data Exchange (ETDEWEB)

    Paul, Jean-Francois; Rohnean, Adela; Sigal-Cinqualbre, Anne [Radiology Unit, Marie Lannelongue Hospital, Plessis-Robinson (France)

    2010-06-15

    Multidetector CT (MDCT) is increasingly used for imaging congenital heart disease (CHD) patients in addition to echocardiography, due to its ability to provide high quality three-dimensional images, giving a comprehensive evaluation of complex heart malformations. Using 4-slice or 16-slice CT, diagnostic information in CHD patients is limited to extra-cardiac anatomy, mainly the pulmonary arteries, aorta and venous connections. Due to high heart rates in babies however, coronary evaluation and intra-cardiac analysis were not reliable with the first generations of MDCT. Larger detector size with 64-slice CT and faster acquisition time, up to 75 ms for one slice, has progressively improved coronary and intra-cardiac visualization. Because radiation dose is the main concern, especially in children, every attempt to minimize dose whilst preserving image quality is important: the ALARA concept should always be applied in this population. The 80 kVp setting is now well accepted as a standard for more and more radiological teams involved in CT of children. Different acquisition strategies are now possible for childhood coronary imaging, using retrospective or even prospective gating. Using the latest technology, sub-mSv acquisitions are now attainable for scanning a whole thorax, providing a complete analysis of any 3-D cardiac malformation, including coronary artery course visualisation. This review will describe how technological developments have improved image quality with continuous reduction of radiation dose. (orig.)

  9. Depression and Coronary Heart Disease

    OpenAIRE

    2012-01-01

    There are exciting findings in the field of depression and coronary heart disease. Whether diagnosed or simply self-reported, depression continues to mark very high risk for a recurrent acute coronary syndrome or for death in patients with coronary heart disease. Many intriguing mechanisms have been posited to be implicated in the association between depression and heart disease, and randomized controlled trials of depression treatment are beginning to delineate the types of depression manage...

  10. Coronary heart disease

    Institute of Scientific and Technical Information of China (English)

    1992-01-01

    920658 Assessment of plasma catechola-mine and β-endorphin contents in patientswith silent myocardial ischemia and anginapectoris. WU Lin(吴林), et al. 1st Hosp, BeijingMed Univ, Beijing, 100034. Cbin J Cardiol1992; 20(2): 90-91. Thirteen Patients with totally silent myocar-dial ischemia(group 1)and 15 patients with ef-fort angina(group 2)were studied. The coronary

  11. Development and Congenital Anomalies of the Pancreas

    Directory of Open Access Journals (Sweden)

    Hiroyuki Tadokoro

    2011-01-01

    Full Text Available Understanding how the pancreas develops is essential to understand the pathogenesis of congenital pancreatic anomalies. Recent studies have shown the advantages of investigating the development of frogs, mice, and chickens for understanding early embryonic development of the pancreas and congenital anomalies, such as choledochal cysts, anomalous pancreaticobiliary junction, annular pancreas, and pancreas divisum. These anomalies arise from failure of complete rotation and fusion during embryogenesis. There are many theories in the etiology of congenital anomalies of the pancreas. We review pancreas development in humans and other vertebrates. In addition, we attempt to clarify how developmental failure is related to congenital pancreatic anomalies.

  12. History of the Congenital Heart Surgeons' Society.

    Science.gov (United States)

    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. © The Author(s) 2015.

  13. Congenital pseudoarthrosis of the clavicle with bifurcation

    Directory of Open Access Journals (Sweden)

    Narender Kumar Magu

    2014-01-01

    Full Text Available Congenital pseudoarthrosis of clavicle is a rare clinical entity. It usually presents as a swelling in the clavicular region at birth or soon after birth. Fitzwilliam′s original description of 60 subtypes of congenital pseudoarthrosis of clavicle have addressed several anatomical variants, e.g. association with cervical rib and abnormally vertical and elevated upper ribs. However, congenital pseudoarthrosis of clavicle associated with bifurcation is an atypical anatomic variant. To the best of our knowledge, this variant has never been mentioned in the literature. In the present report, we have described this subtype of symptomatic congenital pseudoarthrosis of the clavicle with bifurcation and its possible management.

  14. Dominant optic atrophy

    Directory of Open Access Journals (Sweden)

    Lenaers Guy

    2012-07-01

    Full Text Available Abstract Definition of the disease Dominant Optic Atrophy (DOA is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. The disease affects primary the retinal ganglion cells (RGC and their axons forming the optic nerve, which transfer the visual information from the photoreceptors to the lateral geniculus in the brain. Epidemiology The prevalence of the disease varies from 1/10000 in Denmark due to a founder effect, to 1/30000 in the rest of the world. Clinical description DOA patients usually suffer of moderate visual loss, associated with central or paracentral visual field deficits and color vision defects. The severity of the disease is highly variable, the visual acuity ranging from normal to legal blindness. The ophthalmic examination discloses on fundoscopy isolated optic disc pallor or atrophy, related to the RGC death. About 20% of DOA patients harbour extraocular multi-systemic features, including neurosensory hearing loss, or less commonly chronic progressive external ophthalmoplegia, myopathy, peripheral neuropathy, multiple sclerosis-like illness, spastic paraplegia or cataracts. Aetiology Two genes (OPA1, OPA3 encoding inner mitochondrial membrane proteins and three loci (OPA4, OPA5, OPA8 are currently known for DOA. Additional loci and genes (OPA2, OPA6 and OPA7 are responsible for X-linked or recessive optic atrophy. All OPA genes yet identified encode mitochondrial proteins embedded in the inner membrane and ubiquitously expressed, as are the proteins mutated in the Leber Hereditary Optic Neuropathy. OPA1 mutations affect mitochondrial fusion, energy metabolism, control of apoptosis, calcium clearance and maintenance of mitochondrial genome integrity. OPA3 mutations only affect the energy metabolism and the control of apoptosis. Diagnosis Patients are usually diagnosed during their early childhood, because of

  15. Challenges Faced by Parents of Children with Congenital Heart Disease

    Science.gov (United States)

    ... Challenges Faced by Parents of Children with Congenital Heart Disease Page Content ​​​The first thing most parents want ... common and expected. About Congenital Heart Defects Congenital Heart Disease (CHD) is the most common type of birth ...

  16. Congenital hydrocephalus in clinical practice : A genetic diagnostic approach

    NARCIS (Netherlands)

    Verhagen, J. M. A.; Schrander-Stumpel, C. T. R. M.; Krapels, P. C.; de Die-Smulders, C. E. M.; van Lint, F. H. M.; Willekes, C.; Weber, J. W.; Gavilanes, A. W. D.; Macville, M. V. E.; Stegmann, A. P. A.; Engelen, J. J. M.; Bakker, J.; Vos, Y. J.; Frints, S. G. M.

    2011-01-01

    Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of

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

    Science.gov (United States)

    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.

  18. HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss.

    Science.gov (United States)

    Brown, Kerry K; Viana, Lucas M; Helwig, Cecilia C; Artunduaga, Maria A; Quintanilla-Dieck, Lourdes; Jarrin, Patricia; Osorno, Gabriel; McDonough, Barbara; DePalma, Steven R; Eavey, Roland D; Seidman, Jonathan G; Seidman, Christine E

    2013-10-01

    Microtia is a rare, congenital malformation of the external ear that in some cases has a genetic etiology. We ascertained a three-generation family with bilateral microtia and hearing loss segregating as an autosomal dominant trait. Exome sequencing of affected family members detected only seven shared, rare, heterozygous, nonsynonymous variants, including one protein truncating variant, a HOXA2 nonsense change (c.703C>T, p.Q235*). The HOXA2 variant was segregated with microtia and hearing loss in the family and was not seen in 6,500 individuals sequenced by the NHLBI Exome Sequencing Project or in 218 control individuals sequenced in this study. HOXA2 has been shown to be critical for outer and middle ear development through mouse models and has previously been associated with autosomal recessive bilateral microtia. Our data extend these conclusions and define HOXA2 haploinsufficiency as the first genetic cause for autosomal-dominant nonsyndromic microtia.

  19. Congenital prosopagnosia--a common hereditary cognitive dysfunction in humans.

    Science.gov (United States)

    Kennerknecht, Ingo; Pluempe, Nina; Welling, Brigitte

    2008-01-01

    The apparent selectivity of agnosia for faces is termed prosopagnosia or face blindness. This cognitive dysfunction can be seen after traumatic events--involving at least the right occipital temporal region--or very frequently congenital in the absence of any detectable lesions. The familiarity of congenital prosopagnosia was studied in two independently ascertained collections of subjects with prosopagnosia. One was an unselected group of pupils and students who underwent a questionnaire based screening. The others were self reported subjects after having heard for the first time about the phenomenon of prosopagnosia from mass media citing our studies and/or from our homepage (www.prosopagnosia.de). Those who agreed with consecutive studies of their family members had mostly one or more prosopagnosic first degree relatives. The segregation patterns derived from 39 families are compatible with autosomal dominant inheritance. Hence, mutation(s) in one gene are sufficient for manifestation of the phenotype. Still fitting the concept of autosomal dominant inheritance, we have evidence for a slightly reduced penetrance (4 normal transmitters from distinct families) and one or two de novo mutations.

  20. Coffee Consumption and Coronary Calcification: The Rotterdam Coronary Calcification Study

    NARCIS (Netherlands)

    Woudenbergh, van G.J.; Vliegenthart, R.; Rooij, van F.J.A.; Hofman, A.; Oudkerk, M.; Witteman, J.C.M.; Geleijnse, J.M.

    2008-01-01

    Background¿ The role of coffee in the cardiovascular system is not yet clear. We examined the relation of coffee intake with coronary calcification in a population-based cohort. Methods and Results¿ The study involved 1570 older men and women without coronary heart disease who participated in the Ro

  1. Coffee consumption and coronary calcification - The Rotterdam Coronary Calcification Study

    NARCIS (Netherlands)

    van Woudenbergh, Geertruida J.; Vliegenthart, Rozemarijn; van Rooij, Frank J. A.; Hofman, Albert; Oudkerk, Matthijs; Witteman, Jacqueline C. M.; Geleijnse, Johanna M.

    2008-01-01

    Background-The role of coffee in the cardiovascular system is not yet clear. We examined the relation of coffee intake with coronary calcification in a population-based cohort. Methods and Results-The study involved 1570 older men and women without coronary heart disease who participated in the Rott

  2. Coffee consumption and coronary calcification: The Rotterdam coronary calcification study

    NARCIS (Netherlands)

    G.J. van Woudenbergh (Geertruida); R. Vliegenthart (Rozemarijn); F.J.A. van Rooij (Frank); A. Hofman (Albert); M. Oudkerk (Matthijs); J.C.M. Witteman (Jacqueline); J.M. Geleijnse (Marianne)

    2008-01-01

    textabstractBACKGROUND - The role of coffee in the cardiovascular system is not yet clear. We examined the relation of coffee intake with coronary calcification in a population-based cohort. METHODS AND RESULTS - The study involved 1570 older men and women without coronary heart disease who particip

  3. [Congenital myotonic dystrophy in a Neonatal Intensive Care Unit: case series].

    Science.gov (United States)

    Domingues, Sara; Alves Pereira, Clara; Machado, Angela; Pereira, Sandra; Machado, Leonilde; Fraga, Carla; Oliveira, Abílio; Vale, Isabel; Quelhas, Ilídio

    2014-02-01

    Steinert myotonic dystrophy is a multisystemic disease, autosomal dominant, with a wide spectrum of severity and clinical manifestations. The most severe form is one that manifests in the neonatal period, called congenital myotonic dystrophy. This condition is distinguished by overall hypotonia at birth and respiratory function compromise. Complications are frequent, mainly psychomotor development delay, growth failure, food difficulties and constipation. It is associated with a poor prognosis, with an overall mortality of up to 50% of severely affected children. We present five patients with congenital myotonic dystrophy in order to describe clinical manifestations, diagnosis, treatment and prognosis. Existing data in the literature on psychomotor development, complications and prognosis of survivors with congenital myotonic dystrophy are scarce. In our case studies, we have found significant chronic psychomotor limitations.

  4. Liposuction for lower limb lipodystrophy in congenital analbuminaemia: a case report.

    Science.gov (United States)

    Kandamany, Nanda; Munnoch, Alex

    2014-02-01

    Congenital analbuminaemia is a very rare autosomal dominant disorder in which patients have no serum albumin and markedly low serum total protein concentration. Clinically patients present with mild oedema, hypotension, fatigue and lipodystrophy often with abnormal body habitus. With only around 50 reported cases in the literature worldwide, management of the resulting lipodystrophy remains unclear. A 42-year-old male who was diagnosed with congenital analbuminaemia presented with bilateral lower limb lipodystrophy disproportionately affecting his thighs. This was associated with concerns over appearance, difficulties with mobility and finding clothing. He successfully underwent bilateral lower leg liposuction and has had no recurrence of his symptoms after 12 months. We have demonstrated that liposuction along with controlled compression therapy is a safe and effective treatment for managing lipodystrophy secondary to congenital analbuminaemia. Although rare, clinicians need to be aware that liposuction is a successful treatment modality, which should be made available to this select group of patients.

  5. Dominantly-inherited lop ears.

    Science.gov (United States)

    Leung, Alexander K C; Kong, Albert Y F; Robson, W Lane M; McLeod, D Ross

    2007-10-01

    We describe a four-generation Chinese family that included five members who had an isolated bilateral lop ear anomaly. The presentation suggested a dominant mode of inheritance. The absence of male-to-male transmission does not exclude an X-linked dominant mode of inheritance. Since the phenotypic anomaly of the male proband was no more severe than the affected female members, an autosomal dominant mode of inheritance is most likely. 2007 Wiley-Liss, Inc

  6. Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.

    Science.gov (United States)

    Tominaga, Kayo; Hayashi, Yukiko K; Goto, Kanako; Minami, Narihiro; Noguchi, Satoru; Nonaka, Ikuya; Miki, Tetsuro; Nishino, Ichizo

    2010-04-01

    Congenital myotonic dystrophy (CDM) is associated with markedly expanded CTG repeats in DMPK. The presence of numerous immature fibers with peripheral halo is a characteristic feature of CDM muscles together with hypotrophy of type 1 fibers. Smaller type 1 fibers with no structural abnormality are a definitive criterion of congenital fiber type disproportion (CFTD). Nonetheless, we recently came across a patient who was genetically confirmed as CDM, but had been earlier diagnosed as CFTD when he was an infant. In this study, we performed clinical, pathological, and genetic analyses in infantile patients pathologically diagnosed as CFTD to evaluate CDM patients indistinguishable from CFTD. We examined CTG repeat expansion in DMPK in 28 infantile patients pathologically diagnosed as CFTD. Mutation screening of ACTA1 and TPM3 was performed, and we compared clinical and pathological findings of 20 CDM patients with those of the other cohorts. We identified four (14%) patients with CTG expansion in DMPK. ACTA1 mutation was identified in four (14%), and TPM3 mutation was found in two (7%) patients. Fiber size disproportion was more prominent in patients with ACTA1 or TPM3 mutations as compared to CFTD patients with CTG expansion. A further three patients among 20 CDM patients showed pathological findings similar to CFTD. From our results, CDM should be excluded in CFTD patients.

  7. Idiopathic erythermalgia: a congenital disorder.

    Science.gov (United States)

    Michiels, J J; van Joost, T; Vuzevski, V D

    1989-11-01

    Idiopathic erythermalgia during early childhood and adolescence is characterized by red, congested, burning pain of the lower extremities provoked by exercise or exposure to warmth. The clinical symptoms of idiopathic erythermalgia in a young woman and her mother are described. Histopathologic and immunofluorescence findings in biopsy specimens of affected areas of skin were consistent with a nonspecific inflammatory process. The condition was completely refractory to any treatment. Even the long-lasting relief of pain with one low dose of aspirin, which is a prerequisite for the diagnosis of thrombocytemic erythromelalgia, was lacking. Idiopathic erythermalgia appears to be a separate clinical entity and congenital disorder.

  8. Endocrine disruptors and congenital anomalies

    Directory of Open Access Journals (Sweden)

    Mônica Rittler

    2002-04-01

    Full Text Available The specialized literature was reviewed concerning the suspected increasing secular trends in the frequency of female births, male genital congenital anomalies, abnormal sperm counts, and testicular cancer. Although no risk factors could be identified yet, the observed sex ratio decline during the last decades has been considered to be an effect of certain pollutants on normal hormone activity, and human reproductive development. Reported increasing trends in the frequencies of hypospadias and cryptorchidism are very difficult to be interpreted due to the large variability in the registered frequency of these malformations due to operational as well as biological reasons.

  9. Laboratory Diagnosis of Congenital Toxoplasmosis.

    Science.gov (United States)

    Pomares, Christelle; Montoya, Jose G

    2016-10-01

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

  10. Congenital Diverticular Disease of the Entire Colon

    Directory of Open Access Journals (Sweden)

    A. Patel

    2013-01-01

    Full Text Available Congenital or true colonic diverticulosis is a rare condition typified by the preservation of the colonic wall architecture within the diverticular outpouching. Cases of multiple jejunal diverticula have been reported as well as cases of solitary giant diverticula of the colon. There have been no reports in the literature of pancolonic congenital diverticulosis.

  11. Bilateral population receptive fields in congenital hemihydranencephaly

    NARCIS (Netherlands)

    Fracasso, Alessio; Koenraads, Yvonne; Porro, Giorgio L.; Dumoulin, Serge O.

    2016-01-01

    Purpose: Congenital hemihydranencephaly (HH) is a very rare disorder characterised by prenatal near-complete unilateral loss of the cerebral cortex. We investigated a patient affected by congenital right HH whose visual field extended significantly into the both visual hemifields, suggesting a reorg

  12. Congenital Plasmodium falciparum Malaria in Washington, DC.

    Science.gov (United States)

    Del Castillo, Melissa; Szymanski, Ann Marie; Slovin, Ariella; Wong, Edward C C; DeBiasi, Roberta L

    2017-01-11

    Congenital malaria is rare in the United States, but is an important diagnosis to consider when evaluating febrile infants. Herein, we describe a case of congenital Plasmodium falciparum malaria in a 2-week-old infant born in the United States to a mother who had emigrated from Nigeria 3 months before delivery. © The American Society of Tropical Medicine and Hygiene.

  13. Multiple congenital defects in a newborn foal

    Directory of Open Access Journals (Sweden)

    J.F. Silva

    2014-12-01

    Full Text Available A case of multiple congenital defects in a newborn foal is reported. The animal showed hypoplasia of the left pelvic limb bones, uterus unicornis, congenital diaphragmatic hernia, and unilateral renal and ureteral agenesis. This report includes the macroscopic and microscopic lesions observed in the case.

  14. Mortality in adult congenital heart disease

    NARCIS (Netherlands)

    Verheugt, Carianne L.; Uiterwaal, Cuno S. P. M.; van der Velde, Enno T.; Meijboom, Folkert J.; Pieper, Petronella G.; van Dijk, Arie P. J.; Vliegen, Hubert W.; Grobbee, Diederick E.; Mulder, Barbara J. M.

    2010-01-01

    Mortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear. The Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regression was used to assess mortality pre

  15. Mortality in adult congenital heart disease

    NARCIS (Netherlands)

    C.L. Verheugt (Carianne); C.S.P.M. Uiterwaal (Cuno); E.T. van der Velde (Enno); F.J. Meijboom (Folkert); P.G. Pieper (Petronella); A.P.J. van Dijk (Arie); H.W. Vliegen (Hubert); D.E. Grobbee (Diederick); B.J.M. Mulder (Barbara)

    2010-01-01

    textabstractAimsMortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear.Methods and resultsThe Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regressio

  16. Congenital rubella syndrome and delayed manifestations

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2010-01-01

    Objective: Several hypotheses of different medical and psychological delayed manifestations among people who have congenital rubella syndrome (CRS) have been discussed. This study tests some of these hypotheses of delayed manifestations. Methods: Gathering information about 35 individuals who hav...... which people with CRS face must primarily be understood in relation to congenital deafblindness and dual sensory and communicative deprivation....

  17. Mortality in adult congenital heart disease

    NARCIS (Netherlands)

    C.L. Verheugt (Carianne); C.S.P.M. Uiterwaal (Cuno); E.T. van der Velde (Enno); F.J. Meijboom (Folkert); P.G. Pieper (Petronella); A.P.J. van Dijk (Arie); H.W. Vliegen (Hubert); D.E. Grobbee (Diederick); B.J.M. Mulder (Barbara)

    2010-01-01

    textabstractAimsMortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear.Methods and resultsThe Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's

  18. Mortality in adult congenital heart disease.

    NARCIS (Netherlands)

    Verheugt, C.L.; Uiterwaal, C.S.; Velde, E.T. van der; Meijboom, F.J.; Pieper, P.G.; Dijk, A.P.J. van; Vliegen, H.W.; Grobbee, D.E.; Mulder, B.J.

    2010-01-01

    AIMS: Mortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear. METHODS AND RESULTS: The Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regression was

  19. Chelation for Coronary Heart Disease

    Science.gov (United States)

    ... V W X Y Z Chelation for Coronary Heart Disease Share: © AHA Coronary heart disease is a leading cause of death among both ... health approach . The use of disodium EDTA for heart disease has not been approved by the U.S. Food ...

  20. [Orthopedic aspects of congenital insensitivity to pain].

    Science.gov (United States)

    Bronfen, C; Bensahel, H; Teule, J G

    1985-01-01

    The congenital insensitivity to pain regroups some rare diseases which are mainly 5: congenital insensitivity to pain; congenital sensitive neuropathies; distal sensitive neuropathies; Riley-Day syndrome or hereditary dysautonomia; at last, miscellaneous troubles. Three different cases are reported in children: true congenital insensitivity to pain; hereditary dysautonomia or Riley-Day syndrome; congenital insensitivity to pain localised to a lower limb joined to amniotic disease and abnormality of this limb. The orthopedic symptoms (osteomyelitis, arthropathies as Charcot type, dislocations, fractures) lead often to diagnosis and they are an important step of the prognosis. Scoliosis seems to be frequent in this disease. The orthopedic and surgical treatment, according to each localization, is difficult and must emphasize the prevention of bones and joints injuries.

  1. Robotics and coronary artery surgery.

    Science.gov (United States)

    Magee, Mitchell J; Mack, Michael J

    2002-11-01

    Significant progress in cardiac surgery, and specifically the surgical management of coronary artery disease, has been due in large part to enabling technology. Robotic systems have been recently developed and refined for use in cardiac surgery to facilitate, among other procedures, a totally endoscopic approach to coronary artery bypass surgery. These systems enhance precision through endoscopic approaches by specifically addressing the inherent limitations of conventional endoscopic coronary microsurgical instrumentation via computerized, digital interface, telemanipulation technology. With a combined experience of 125 patients, several groups have independently demonstrated the clinical feasibility of totally endoscopic coronary artery bypass with two commercially available robotic telemanipulation systems. Additional enabling technology is needed to overcome the challenges currently limiting development and widespread application of totally endoscopic off-pump multivessel coronary artery bypass surgery.

  2. [Congenital malformations: care or predict?].

    Science.gov (United States)

    Pellerin, D

    1993-02-01

    Spectacular scientific and technological advances made in the last decade have had such a profound impact on biological and medical science that they have dramatically modified the citizen's behaviour concerning life events, especially congenital malformation. Prenatal diagnosis (PND) leads to do the diagnosis of almost all fetal internal and external malformations. The matter is, not only to care, but, first to know. The positive efficiency of PND is sometimes preparing the best cares and, of course, to recognize many severe anomalies postnatally diagnosed before PND time, and carrying wellknown 50% rate mortality by neo-natal surgery. Congenital diaphragmatic hernia is pointed out as a good example of it, and of hopes and disappointing in utero foetal surgery. New protocol of assessment of fetal renal function is an appreciated method to do prognosis of some fetal uropathies before late in utero drainage, for a short time waiting for necessary maturation of lungs allowing premature delivery. The possibility to do PND of small and benign malformation leads to ask for the question of utility of to know. In spite of the respect of quality of life, can we really allow this type of human selection to be made? The next knowledges of the human genoma map bring us into the predictive medicine. Using "compulsory" PND is a real risk to practice dangerously, a soft eugenism. PND must be, and remain an outstanding advance to provide better treatment.

  3. Brain Dominance & Self-Actualization.

    Science.gov (United States)

    Bernhoft, Franklin O.

    Numerous areas associated with brain dominance have been researched since Bogen and Sperry's work with split-brain patients in the 1960s, but only slight attention has been given to the connection between brain dominance and personality. No study appears in the literature seeking to understand optimal mental health as defined by Maslow's…

  4. Distributional dominance with dirty data

    OpenAIRE

    2001-01-01

    Distributional dominance criteria are commonly applied to draw welfare in- ferences about comparisons, but conclusions drawn from empirical imple- mentations of dominance criteria may be inßuenced by data contamination. We examine a non-parametric approach to reÞning Lorenz-type comparisons and apply the technique to two important examples from the LIS data-base.

  5. Dominant Leadership Style in Schools

    Science.gov (United States)

    Rajbhandari, Mani Man Singh

    2006-01-01

    The dominant leadership style is defined by the situation and the kind of organizational environment and climate. This, however, does not sufficiently define the leadership qualities in school organizations. There are other factors which also determine the dominant leadership style, which are the traits and style, teachers commitments, pass out…

  6. Eternal Domination: Criticality and Reachability

    Directory of Open Access Journals (Sweden)

    Klostermeyer William F.

    2017-02-01

    Full Text Available We show that for every minimum eternal dominating set, D, of a graph G and every vertex v ∈ D, there is a sequence of attacks at the vertices of G which can be defended in such a way that an eternal dominating set not containing v is reached. The study of the stronger assertion that such a set can be reached after a single attack is defended leads to the study of graphs which are critical in the sense that deleting any vertex reduces the eternal domination number. Examples of these graphs and tight bounds on connectivity, edge-connectivity and diameter are given. It is also shown that there exist graphs in which deletion of any edge increases the eternal domination number, and graphs in which addition of any edge decreases the eternal domination number.

  7. Prevalence of Congenital Heart Diseases in Children with Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Mohamed Abdel Megied Abo El-Magd

    2013-04-01

    Full Text Available The aim of the work was to assess the prevalence of cardiac anomalies in primary congenital hypothyroidism (PCH patients. Fifty patients with PCH recruited after diagnosis by ultrasonography or scintigraphy (64% Dysgenesis, 36% Dyshormonogenesis. The prevalence of cardiac anomalies was 18%, with renal anomalies being 8%. There was no significant difference in the longitudinal follow-up of growth and sexual maturation between a hypothyroid with and without anomalies. Statistically significant difference was found with replacement therapy of both groups. Hence, echocardiography should be done to screen this birth defect as soon as possible so as to prevent or delay the possible complications. [Arch Clin Exp Surg 2013; 2(2.000: 85-91

  8. Identification of a Novel GJA8 (Cx50) Point Mutation Causes Human Dominant Congenital Cataracts

    Science.gov (United States)

    Ge, Xiang-Lian; Zhang, Yilan; Wu, Yaming; Lv, Jineng; Zhang, Wei; Jin, Zi-Bing; Qu, Jia; Gu, Feng

    2014-02-01

    Hereditary cataracts are clinically and genetically heterogeneous lens diseases that cause a significant proportion of visual impairment and blindness in children. Human cataracts have been linked with mutations in two genes, GJA3 and GJA8, respectively. To identify the causative mutation in a family with hereditary cataracts, family members were screened for mutations by PCR for both genes. Sequencing the coding regions of GJA8, coding for connexin 50, revealed a C > A transversion at nucleotide 264, which caused p.P88T mutation. To dissect the molecular consequences of this mutation, plasmids carrying wild-type and mutant mouse ORFs of Gja8 were generated and ectopically expressed in HEK293 cells and human lens epithelial cells, respectively. The recombinant proteins were assessed by confocal microscopy and Western blotting. The results demonstrate that the molecular consequences of the p.P88T mutation in GJA8 include changes in connexin 50 protein localization patterns, accumulation of mutant protein, and increased cell growth.

  9. Coronary collateral circulation in patients of coronary ectasia with significant coronary artery disease.

    Directory of Open Access Journals (Sweden)

    Po-Chao Hsu

    Full Text Available OBJECTIVES: Patients with coronary ectasia (CE usually have coexisting coronary stenosis resulting in myoischemia. Coronary collateral plays an important role in protecting myocardium from ischemia and reducing cardiovascular events. However, limited studies investigate the role of CE in coronary collaterals development. METHODS: We evaluated 1020 consecutive patients undergoing coronary angiography and 552 patients with significant coronary artery disease (SCAD, defined as diameter stenosis more than 70%, were finally analyzed. CE is defined as the ectatic diameter 1.5 times larger than adjacent reference segment. Rentrop collateral score was used to classify patients into poor (grades 0 and 1 or good (grades 2 and 3 collateral group. RESULTS: 73 patients (13.2% had CE lesions which were most located in the right coronary artery (53.4%. Patients with CE had a lower incidence of diabetes (43.8% vs 30.1%, p = 0.03, higher body mass index (25.4±3.5 vs 26.7±4.6, p = 0.027 and poorer coronary collateral (58.2% vs 71.2%, p = 0.040. Patients with poor collateral (n = 331 had a higher incidence of CE (15.7% vs 9.5%, p = 0.040 and fewer diseased vessels numbers (1.96±0.84 vs 2.48±0.69, p<0.001. Multivariate analysis showed diabetes (odd ratio (OR 0.630, p = 0.026, CE (OR = 0.544, p = 0.048, and number of diseased vessels (OR = 2.488, p<0.001 were significant predictors of coronary collaterals development. CONCLUSION: The presence of CE was associated with poorer coronary collateral development in patients with SCAD.

  10. Ten novel FBN2 mutations in congenital contractural arachnodactyly : Delineation of the molecular pathogenesis and clinical phenotype

    NARCIS (Netherlands)

    Gupta, PA; Putnam, EA; Carmical, SG; Kaitila, [No Value; Steinmann, B; Child, A; Danesino, C; Metcalfe, K; Berry, SA; Chen, E; Delorme, CV; Thong, MK; Ades, LC; Milewicz, DM

    2002-01-01

    Congenital contractural arachnodactyly (CCA) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS), but does not have the ocular and cardiovascular complications that characterize MFS. CCA and MFS result from mutations in highly similar genes, FBN2 and FBN1, res

  11. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

    NARCIS (Netherlands)

    Yamada, K; Andrews, C; Chan, WM; McKeown, CA; Magli, A; de Berardinis, T; Loewenstein, A; Lazar, M; O'Keefe, M; Letson, R; London, A; Ruttum, M; Matsumoto, N; Saito, N; Morris, L; Del Monte, M; Johnson, RH; Uyama, E; Houtman, WA; de Vries, B; Carlow, TJ; Hart, BL; Krawiecki, N; Shoffner, J; Vogel, MC; Katowitz, J; Goldstein, SM; Levin, AV; Sener, EC; Ozturk, BT; Akarsu, AN; Brodsky, MC; Hanisch, F; Cruse, RP; Zubcov, AA; Robb, RM; Roggenkaemper, P; Gottlob, [No Value; Kowal, L; Battu, R; Traboulsi, EI; Franceschini, P; Newlin, A; Demer, JL; Engle, EC

    2003-01-01

    Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We iden

  12. Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes (Retracted Article. See vol 72, pg 294, 2009)

    NARCIS (Netherlands)

    Croxen, R; Hatton, C; Shelley, C; Brydson, M; Chauplannaz, G; Oosterhuis, H; Vincent, A; Newsom-Davis, J; Colquhoun, D; Beeson, D

    2002-01-01

    Background: Slow-channel congenital myasthenic syndromes (SCCMS) typically show dominant inheritance. They are caused by missense mutations within the subunits of muscle nicotinic acetylcholine receptors (AChR) that result in prolonged ion channel activations. SCCMS mutations within the AChR a

  13. A Mutation in VEGFC, a Ligand for VEGFR3, is Associated with Autosomal Dominant Milroy-like Primary Lymphedema

    NARCIS (Netherlands)

    Gordon, K.; Schulte, D.; Brice, G.; Simpson, M.A.; Roukens, M.G.; Impel, Van A.; Connell, F.; Kalidas, K.; Jeffery, S.; Mortimer, P.S.; Mansour, S.; Schulte-Merker, S.; Ostergaard, P.

    2013-01-01

    Rationale: Mutations in vascular endothelial growth factor (VEGF) receptor-3 (VEGFR3 or FLT4) cause Milroy disease, an autosomal dominant condition that presents with congenital lymphedema. Mutations in VEGFR3 are identified in only 70% of patients with classic Milroy disease, suggesting genetic het

  14. Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction.

    NARCIS (Netherlands)

    Wessels, M.W.; Laar, I.M. van de; Roos-Hesselink, J.W.; Strikwerda, S.; Majoor-Krakauer, D.F.; Vries, L.B.A. de; Kerstjens-Frederikse, W.S.; Vos, Y.J.; Graaf, B.M. de; Bertoli-Avella, A.M.; Willems, P.J.

    2009-01-01

    Only a limited number of families with clear monogenic inheritance of nonsyndromic forms of congenital valve defects have been described. We describe two multiplex pedigrees with a similar nonsyndromic form of heart valve anomalies that segregate as an autosomal dominant condition. The first family

  15. Autosomal Dominant Inheritance of Cardiac Valves Anomalies in Two Families : Extended Spectrum of Left-Ventricular Outflow Tract Obstruction

    NARCIS (Netherlands)

    Wessels, Maria W.; van de Laar, Ingrid M. B. H.; Roos-Hesselink, Jolien; Strikwerda, Sipke; Majoor-Krakauer, Danielle F.; de Vries, Bert B. A.; Kerstjens-Frederikse, Wilhelmina S.; Vos, Yvonne J.; de Graaf, Bianca M.; Bertoli-Avella, Aida M.; Willems, Patrick J.

    2009-01-01

    Only a limited number of families with clear monogenic inheritance of nonsyndromic forms of congenital valve defects have been described. We describe two multiplex pedigrees with a similar nonsyndromic form of heart valve anomalies that segregate as an autosomal dominant condition. The first family

  16. Angiographic analysis of congenital mitral stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kyung Soo; Yeon, Kyung Mo; Han, Man Chung [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1984-09-15

    Congenital mitral stenosis may be defined as a development abnormality of the mitral valve leaflets, commissures, interchordal spaces, papillary muscles, annulus or immediate supravalvular area producing obstruction to left ventricular filling. Authors had experience of nine case of congenital mitral stenosis confirmed by two dimensional echocardiography, angiocardiography and surgery in recent 5 years since 1979, and analyzed them with emphasis on the angiographic findings. The results are as follows: 1. Among 9 cases, 6 patients were male and 3 were female. Age distribution was from 4 month to 11 years. 2. The types of congenital mitral stenosis were 1 typical congenital mitral stenosis, 5 cases of parachute mitral valve and 3 cases of supramitral ring. 3. Angiographically typical congenital mitral stenosis showed narrowing of mitral valvular opening, parachute mitral valve displayed single large papillary muscle with narrowing valvular opening and supramitral ring disclosed semilunar shaped filling defect between left atrium and ventricle. 4. Associated cardiac and extracardiac anomalies of congenital mitral stenosis, as frequency wise, were ventricular septal defect, patent ductus arteriosus, coarctation of aorta, supra and subvalvular aortic stenosis, mitral regurgitation and double outlet right ventricle. 5. Cardiac angiography is essential to diagnose congenital mitral stenosis, but the need of two dimensional echocardiography cannot be ignored.

  17. Generalized connected domination in graphs

    Directory of Open Access Journals (Sweden)

    M. Kouider

    2006-01-01

    Full Text Available As a generalization of connected domination in a graph G we consider domination by sets having at most k components. The order γ c k (G of such a smallest set we relate to γ c (G, the order of a smallest connected dominating set. For a tree T we give bounds on γ c k (T in terms of minimum valency and diameter. For trees the inequality γ c k (T≤ n-k-1 is known to hold, we determine the class of trees, for which equality holds.

  18. Detection of congenital uterine malformation by using transvaginal three-dimensional ultrasound.

    Science.gov (United States)

    Yu, Li-Li; Zhang, Xuan; Zhang, Ting; Chen, Han-Rong; Wang, Ze-Hua

    2014-10-01

    This study assessed the clinical application of transvaginal three-dimensional ultrasound (3D TVUS) in the diagnosis of congenital uterine malformation. A retrospective study was performed on 62 patients with congenital uterine malformation confirmed hysteroscopically and/or laparoscopically. The patients were subjected to transvaginal two-dimensional ultrasound (2D TVUS) and 3D TVUS. The accuracy rate was compared between the two methods. The accuracy rate of 3D TVUS was (98.38%, 61/62), higher than that of 2D TVUS (80.65%, 50/62). 3D TVUS coronal plane imaging could demonstrate the internal shape of the endometrial cavity and the external contour of the uterine fundus. It allowed accurate measurement on the coronary plane, and could three-dimensionally show the image of cervical tube, thereby providing information for the diagnosis of some complex uterine malformation. 3D TVUS imaging can obtain comprehensive information of the uterus malformation, and it is superior to 2D TVUS for the diagnosis of congenital uterine malformations, especially complex uterine anomaly.

  19. The Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery (ALCAPA: a Case Series and Brief Review

    Directory of Open Access Journals (Sweden)

    Aliasghar Moeinipour

    2016-02-01

    Full Text Available Background Anomalous left coronary artery from the pulmonary artery (ALCAPA is a rare congenital cardiovascular defect that occurs in approximately 1/300 000 live births or 0.5% of children with congenital heart disease. There are two types of ALCAPA syndrome: the infant type and the adult type. The most infants experience myocardial infarction and congestive heart failure, and approximately 90% die within the first year of life; also, without early surgical intervention they have a dismal prognosis. Materials and Methods We report 3- year experiences from January 2013 to January 2016 of Imam Reza Hospital center (a tertiary referral hospital North East of Iran that consist of all patients with ALCAPA syndrome. Results The Takeuchi procedure, were successfully performed in five children with anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA. There was no death and significant mitral regurgitation postoperative (n=0 in this short study. All of patients (n=5 had evidence of improving ischemic myocardium status by increasing of ejection fraction and regional wall motion of left ventricular in follow up echocardiography. Conclusion The only cure treatment for ALCAPA syndrome is surgical intervention that needs to be performed immediately after diagnosis to prevent myocardial infarction and chronic heart failure. Today, establishing a system with two coronary arteries is the goal in definitive surgical repair. The Takeuchi procedure is a prefer method to establish a two-coronary repair for ALCAPA.

  20. PLACENTAL GROWTH FACTOR AND CORONARY NEOANGIOGENESIS IN CORONARY HEART DISEASE

    Directory of Open Access Journals (Sweden)

    M. V. Tulikov

    2013-01-01

    Full Text Available Neoangiogenesis in coronary heart disease is a protective reaction aimed to improve ischemic myocardial perfusion, by increasing the number and size of arterial collaterals. Placental growth factor (PlGF is one of the key peptides regulating angiogenic processes in atherosclerosis. In particular, a number of investigators have shown that injection of recombinant PlGF into the system or regional blood flow can stimulate neoangiogenesis. On the other hand, there is evidence confirming the involvement of PlGF in the progression of atherosclerosis and in the development of acute coronary syndrome. In this connection, the problem of investigating the efficiency and safety of possible use of PlGF preparations, as well as its place in the diagnosis of coronary heart disease and acute coronary syndrome remains urgent

  1. Unilateral straight hair and congenital horner syndrome.

    Science.gov (United States)

    Wang, Frederick M; Wertenbaker, Christian; Cho, Hyung; Marmor, Maury A; Ahn-Lee, Sandra S; Bernard, Bruno A

    2012-06-01

    Congenital Horner syndrome is a rare disorder that accounts for less than 5% of all cases of Horner syndrome. Like Horner syndrome in general, it consists primarily of ptosis, miosis, and anhidrosis. Congenital Horner syndrome may manifest some special features such as iris heterochromia since the sympathetic nervous system is an essential component for the development and maintenance of eye color. We present 3 cases of unilateral straight hair in association with congenital Horner syndrome in which the patients had straight hair ipsilateral to the Horner syndrome, whereas on the contralateral side, it was curly, and we discuss possible mechanisms for this phenomenon.

  2. [Congenital hepatic fibrosis: apropos of 12 cases].

    Science.gov (United States)

    Murga, M L; Jara, P; Díaz, M C; de la Rubia, L; Arroba, M L; Larrauri, J; Vázquez, C

    1988-02-01

    Twelve patients with congenital hepatic fibrosis have been retrospectively studied and followed for 1 to 14 years. Clinical features, hepatic function tests and biopsy have been analyzed. Presence of portal hypertension and congenital malformation have been investigated. Clinical presentations varies from newborn to nine years of age without male or female predominance. Most frequent clinical form has been hypertensive type. Cholangitic type has worse prognosis. Familiar recurrence rate is 20%. Congenital malformations are associated in 92% most frequently infantile polycystic kidney disease. Hepatic biopsy has confirmed diagnosis in all patients.

  3. Right congenital pleuro-peritoneal hiatus hernia

    Directory of Open Access Journals (Sweden)

    Sankar DK

    2009-12-01

    Full Text Available Congenital diaphragmatic hernias are of various types which are due to the defect in the diaphragm and can be encountered in any period of life. Left mediastinal shift with right congenital diaphragmatic hernia is rare and life threatening malformation. We describe a case of right congenital diaphragmatic hernia of a newborn male infant, which died shortly after birth. The lobes of the liver were enlarged and occupied whole of the abdominal cavity. The stomach and intestinal loops were herniated into the right pleural cavity and partly into the left pleural cavity. Severe hypoplastic right lung, trilobed left lung and dextrocardia also were observed.

  4. The prevalence of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Dolk, Helen; Loane, Maria; Garne, Ester

    2010-01-01

    anomalies overwhelmingly concern children surviving the early neonatal period, who have important medical, social or educational needs. The prevalence of chromosomal anomalies was 3.6 per 1,000 births, contributing 28% of stillbirths/fetal deaths from 20 weeks gestation with congenital anomaly, and 48...... of 23.9 per 1,000 births for 2003-2007. 80% were livebirths. 2.5% of livebirths with congenital anomaly died in the first week of life. 2.0% were stillbirths or fetal deaths from 20 weeks gestation. 17.6% of all cases were terminations of pregnancy following prenatal diagnosis (TOPFA). Thus, congenital...

  5. Congenital anomalies surveillance in Canada.

    Science.gov (United States)

    Lowry, R Brian

    2008-01-01

    Congenital anomalies (CA) are present in approximately 3% of all newborn babies and account for about 12% of paediatric hospital admissions. They represent an important public health problem. Surveillance is especially important so that preventive measures such as folic acid fortification can be properly assessed without resorting to a series of ad hoc studies. Canada's surveillance of CAs is weak, with only Alberta and British Columbia having established sytems. Most provinces have perinatal systems but their CA data are incomplete and they do not capture terminations of pregnancy. The same is true of the Public Health Agency of Canada's system. A new system, the Fetal Alert Network, has been proposed for Ontario, which represents a start but will require additional sources of ascertainment if it is to be a truly population-based system for Ontario.

  6. Congenital duplication of the gallbladder.

    Science.gov (United States)

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

    2006-03-01

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

  7. CONGENITAL SENSORY NEUROPATHY (HSAN II

    Directory of Open Access Journals (Sweden)

    Venkata Chalam

    2015-08-01

    Full Text Available A 5 year old girl having hereditary sensory neuropathy, type II manifesting as congenital absence of pain sensation and trophic changes in the skin is reported. This child presented with presented with multiple ulcers over hands and feet since 2 years of age. The ulcers were non - healing type with serosanguineous discharge. There is abnormal gait and weakness in upper and lower limbs. On examination there are deep ulcers measuring 5x7x2cms over left feet. Fingers of both hands and feet were mutilated with loss of phalanges, sensations to fine touch, pain and temperature are decreased bilaterally below the mid arm and feet, vibration sensations were normal, proprioception could not be tested due to deformities. Sensory and motor nerve conduction studies showed evidence of sensorimotor axonal neuropathy.

  8. Congenital epulis of the newborn

    Directory of Open Access Journals (Sweden)

    R Mahesh Kumar

    2015-01-01

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

  9. Imaging of congenital diaphragmatic hernias

    Energy Technology Data Exchange (ETDEWEB)

    Taylor, George A.; Estroff, Judy A. [Harvard Medical School, Department of Radiology, Children' s Hospital Boston, Boston, MA (United States); Atalabi, Omolola M. [Harvard Medical School, Department of Radiology, Children' s Hospital Boston, Boston, MA (United States); The College of Medicine/University College Hospital, Ibadan (Nigeria)

    2009-01-15

    Congenital diaphragmatic hernias are complex and life-threatening lesions that are not just anatomic defects of the diaphragm, but represent a complex set of physiologic derangements of the lung, the pulmonary vasculature, and related structures. Imaging plays an increasingly important role in the care of these infants. Prenatal sonography and MRI have allowed early and accurate identification of the defect and associated anomalies. These tools have also been the key to defining the degree of pulmonary hypoplasia and to predicting neonatal survival and need for aggressive respiratory rescue strategies. In the postnatal period, conventional radiography supplemented by cross-sectional imaging in selected cases can be very useful in sorting out the differential diagnosis of intrathoracic masses, in the detection of associated anomalies, and in the management of complications. Understanding the pathogenesis of diaphragmatic defects, the underlying physiologic disturbances, and the strengths and limitations of current imaging protocols is essential to the effective and accurate management of these complex patients. (orig.)

  10. X-linked congenital retinoschisis.

    Science.gov (United States)

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

    1990-01-01

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

  11. Dominant investors and strategic transparency

    NARCIS (Netherlands)

    E.C. Perotti; E.-L. von Thadden

    1999-01-01

    This paper studies product market competition under a strategic transparency decision. Dominant investors can influence information collection in the financial market, and thereby corporate transparency, by affecting market liquidity or the cost of information collection. More transparency on a firm

  12. Dominant investors and strategic transparency

    NARCIS (Netherlands)

    E.C. Perotti; E.-L. von Thadden

    1998-01-01

    This paper studies product market competition under a strategic transparency decision. Dominant investors can influence information collection in the financial market, and thereby corporate transparency, by affecting market liquidity or the cost of information collection. More transparency on a firm

  13. Modeling vapor dominated geothermal reservoirs

    Energy Technology Data Exchange (ETDEWEB)

    Marconcini, R.; McEdwards, D.; Neri, G.; Ruffilli, C.; Schroeder, R.; Weres, O.; Witherspoon, P.

    1977-09-12

    The unresolved questions with regard to vapor-dominated reservoir production and longevity are reviewed. The simulation of reservoir behavior and the LBL computer program are discussed. The geology of Serrazzano geothermal field and its reservoir simulation are described. (MHR)

  14. secondary Prevention of Coronary Events by Coronary Artery Bypass Surgery

    OpenAIRE

    2003-01-01

    Coronary artery bypass surgery has shown its superiority on other therapeutic options in specific but frequent indications such as left main lesions, multivessel disease with alteration of ventricular function, proximal lesions of the LAD, and multivessel diseases in diabetic patients. After reviewing the epidemiology of coronary artherosclerosis, we emphasize the efficacy of the surgical treatment compared to medical or interventional therapy for preventing ischemic events. The results deriv...

  15. Experience of a single center with congenital hepatic fibrosis:A review of the literature

    Institute of Scientific and Technical Information of China (English)

    Ali; Shorbagi; Yusuf; Bayraktar

    2010-01-01

    Congenital hepatic fibrosis(CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts.It is one of the fibropolycystic diseases,which also include Caroli disease,autosomal dominant polycystic kidney disease,and autosomal recessive polycystic kidney disease. Clinically it is characterized by hepatic fibrosis,portal hypertension,and renal cystic disease.CHF is known to occur in association with a ran...

  16. Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.

    Science.gov (United States)

    Vreugde, Sarah; Erven, Alexandra; Kros, Corné J; Marcotti, Walter; Fuchs, Helmut; Kurima, Kiyoto; Wilcox, Edward R; Friedman, Thomas B; Griffith, Andrew J; Balling, Rudi; Hrabé De Angelis, Martin; Avraham, Karen B; Steel, Karen P

    2002-03-01

    Despite recent progress in identifying genes underlying deafness, there are still relatively few mouse models of specific forms of human deafness. Here we describe the phenotype of the Beethoven (Bth) mouse mutant and a missense mutation in Tmc1 (transmembrane cochlear-expressed gene 1). Progressive hearing loss (DFNA36) and profound congenital deafness (DFNB7/B11) are caused by dominant and recessive mutations of the human ortholog, TMC1 (ref. 1), for which Bth and deafness (dn) are mouse models, respectively.

  17. Restrained roman domination in graphs

    Directory of Open Access Journals (Sweden)

    Roushini Leely Pushpam

    2015-03-01

    Full Text Available A Roman dominating function (RDF on a graph G = (V,E is defined to be a function satisfying the condition that every vertex u for which f(u = 0 is adjacent to at least one vertex v for which f(v = 2. A set S V is a Restrained dominating set if every vertex not in S is adjacent to a vertex in S and to a vertex in . We define a Restrained Roman dominating function on a graph G = (V,E to be a function satisfying the condition that every vertex u for which f(u = 0 is adjacent to at least one vertex v for which f(v = 2 and at least one vertex w for which f(w = 0. The weight of a Restrained Roman dominating function is the value . The minimum weight of a Restrained Roman dominating function on a graph G is called the Restrained Roman domination number of G and denoted by . In this paper, we initiate a study of this parameter.

  18. Congenital left ventricular wall abnormalities in adults detected by gated cardiac multidetector computed tomography: Clefts, aneurysms, diverticula and terminology problems

    Energy Technology Data Exchange (ETDEWEB)

    Erol, Cengiz, E-mail: drcengizerol@yahoo.com [Selcuk University, Selcuklu Faculty of Medicine, Department of Radiology, Alaeddin Keykubat Central Campus, Selcuklu, 42250 Konya (Turkey); Koplay, Mustafa, E-mail: koplaymustafa@hotmail.com [Selcuk University, Selcuklu Faculty of Medicine, Department of Radiology, Alaeddin Keykubat Central Campus, Selcuklu, 42250 Konya (Turkey); Olcay, Ayhan, E-mail: drayhanolcay@gmail.com [29 May Hospital, Department of Cardiology, Vatan Street, Fatih, 34150 Istanbul (Turkey); Kivrak, Ali Sami, E-mail: alisamikivrak@hotmail.com [Selcuk University, Selcuklu Faculty of Medicine, Department of Radiology, Alaeddin Keykubat Central Campus, Selcuklu, 42250 Konya (Turkey); Ozbek, Seda, E-mail: dsadr@hotmail.com [Selcuk University, Selcuklu Faculty of Medicine, Department of Radiology, Alaeddin Keykubat Central Campus, Selcuklu, 42250 Konya (Turkey); Seker, Mehmet, E-mail: hikmet.irfan@hotmail.com [29 May Hospital, Department of Radiology, Vatan Street, Fatih, 34150 Istanbul (Turkey); Paksoy, Yahya, E-mail: yahyapaksoy@yahoo.com [Selcuk University, Selcuklu Faculty of Medicine, Department of Radiology, Alaeddin Keykubat Central Campus, Selcuklu, 42250 Konya (Turkey)

    2012-11-15

    Objectives: Our aim was to evaluate congenital left ventricular wall abnormalities (clefts, aneurysms and diverticula), describe and illustrate imaging features, discuss terminology problems and determine their prevalence detected by cardiac CT in a single center. Materials and methods: Coronary CT angiography images of 2093 adult patients were evaluated retrospectively in order to determine congenital left ventricular wall abnormalities. Results: The incidence of left ventricular clefts (LVC) was 6.7% (141 patients) and statistically significant difference was not detected between the sexes regarding LVC (P = 0.5). LVCs were single in 65.2% and multiple in 34.8% of patients. They were located at the basal to mid inferoseptal segment of the left ventricle in 55.4%, the basal to mid anteroseptal segment in 24.1%, basal to mid inferior segment in 17% and septal-apical septal segment in 3.5% of cases. The cleft length ranged from 5 to 22 mm (mean 10.5 mm) and they had a narrow connection with the left ventricle (mean 2.5 mm). They were contractile with the left ventricle and obliterated during systole. Congenital left ventricular septal aneurysm that was located just under the aortic valve was detected in two patients (0.1%). No case of congenital left ventricular diverticulum was detected. Conclusion: Cardiac CT allows us to recognize congenital left ventricular wall abnormalities which have been previously overlooked in adults. LVC is a congenital structural variant of the myocardium, is seen more frequently than previously reported and should be differentiated from aneurysm and diverticulum for possible catastrophic complications of the latter two.

  19. Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence?

    Directory of Open Access Journals (Sweden)

    Hanane Latrech

    2015-01-01

    Full Text Available Background. 47XYY syndrome is a rare sex chromosome variation characterized by an additional Y chromosome. Most patients with 47XYY karyotype have normal phenotype. This disorder seems associated with a higher risk of developing behavioral and cognitive problems, tall stature, and infertility in adulthood. Sexual development disorder is a rare finding. We report a first case with an abnormal left coronary artery originating from the pulmonary artery in a 47XYY patient. Case. A one-month-old child was referred for ectopic testis and micropenis. Physical examination revealed facial dysmorphia, micropenis, and curvature of the penis with nonpalpable testis. Laboratory tests showed decreased total testosterone and anti-Mullerian hormone (AMH levels. Blood karyotyping revealed a 47XYY chromosomal formula. At the age of 3 months, the patient developed dyspnea and tachycardia. Echocardiography revealed an anomalous left coronary artery from pulmonary artery with left ventricular dysfunction requiring surgical revascularization by direct reimplantation of the left coronary artery system. Our second case was a 3-year-old child referred for hypospadias with nonpalpable left testicle. Physical examination showed hypertelorism. Blood karyotyping revealed a 47XYY chromosomal formula. Conclusion. To our knowledge, this is the first case of 47XYY syndrome associated with this congenital heart malformation and a sexual development disorder.

  20. Depression following acute coronary syndrome

    DEFF Research Database (Denmark)

    Joergensen, Terese Sara Hoej; Maartensson, Solvej; Ibfelt, Else Helene;

    2016-01-01

    PURPOSE: Depression is common following acute coronary syndrome, and thus, it is important to provide knowledge to improve prevention and detection of depression in this patient group. The objectives of this study were to examine: (1) whether indicators of stressors and coping resources were risk...... factors for developing depression early and later after an acute coronary syndrome and (2) whether prior depression modified these associations. METHODS: The study was a register-based cohort study, which includes 87,118 patients with a first time diagnosis of acute coronary syndrome during the period.......8 % developed a recurrent depression. Most patient characteristics (demographic factors, socioeconomic status, psychosocial factors, health-related behavioural factors, somatic comorbidities, and severity of acute coronary syndrome) were significantly associated with increased HRs for both early and later...