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Article ; Online: Infectious endarteritis in aortic coarctation: two spectra of an infrequent disease.

Santiago, Justo / Karl, Gabriela / Florez, Claudia / Molina, Yudisay / Castro, Javier / Hurtado, Alexandra / García, Valeria

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

2023 Volume 42, Page(s) e2023084

Abstract: Objective: To describe two different degrees of clinical commitment and results in the evolution of infectious endarteritis in patients without a previous diagnosis of aortic coarctation.: Case description: Two male patients aged 13 and 9 years old ... ...

Abstract	Objective: To describe two different degrees of clinical commitment and results in the evolution of infectious endarteritis in patients without a previous diagnosis of aortic coarctation. Case description: Two male patients aged 13 and 9 years old were admitted. The first due to a fever for 2 months, which started after dental cleaning, and the second due to high blood pressure, both patients with asthenia and weight loss. In the first case, the transthoracic echocardiogram showed aortic coarctation, and the transesophageal echocardiogram showed the presence of vegetations in the post-coarctation area, without pseudoaneurysms, with blood culture positive for Streptococcus mitis. This patient was treated for six weeks with crystalline penicillin, resolving the infection without complications. The second case was assessed for high blood pressure with a history of fever, and was treated with antibiotics. When performing a transthoracic echocardiogram, aortic coarctation was observed with a saccular image classified as a pseudoaneurysm by angiography and tomography. Blood culture was negative, and the patient developed an episode of hematemesis whose initial etiology could not be determined. Before surgical repair, he had a second episode of copious hematemesis with hypovolemic shock and death. Comments: We need to have a high index of clinical suspicion to establish the diagnosis of aortic coarctation complicated by endarteritis and start the appropriate antibiotic treatment, always maintaining surveillance for the early detection of pseudoaneurysms.
MeSH term(s)	Humans ; Male ; Aortic Coarctation/diagnosis ; Aortic Coarctation/diagnostic imaging ; Endarteritis/complications ; Aneurysm, False/diagnosis ; Aneurysm, False/etiology ; Aneurysm, False/surgery ; Hematemesis/complications ; Anti-Bacterial Agents/therapeutic use ; Hypertension/complications
Chemical Substances	Anti-Bacterial Agents
Language	English
Publishing date	2023-12-22
Publishing country	Brazil
Document type	Case Reports
ZDB-ID	2560228-7
ISSN	1984-0462 ; 1984-0462
ISSN (online)	1984-0462
ISSN	1984-0462
DOI	10.1590/1984-0462/2024/42/2023084
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Everolimus for severe arrhythmias in tuberous sclerosis complex related cardiac rhabdomyomas.

Silva-Sánchez, María P / Alvarado-Socarras, Jorge L / Castro-Monsalve, Javier / Meneses, Keyla Milena / Santiago, Justo / Prada, Carlos E

American journal of medical genetics. Part A

2021 Volume 185, Issue 5, Page(s) 1525–1531

Abstract: Intracardiac rhabdomyoma is the most common primary cardiac tumor in children. Most cases are associated with tuberous sclerosis complex (TSC). Most of them are asymptomatic in the neonate and do not require treatment. However, some develop ... ...

Abstract	Intracardiac rhabdomyoma is the most common primary cardiac tumor in children. Most cases are associated with tuberous sclerosis complex (TSC). Most of them are asymptomatic in the neonate and do not require treatment. However, some develop cardiovascular symptoms such as arrhythmias, heart failure, and ventricular inflow/outflow tract obstruction in the neonatal period with early death. Many of these tumors are not candidates for surgical resection and medical management is limited. Treatment with mammalian target of rapamycin (mTOR) inhibitor is currently approved for the management of central nervous tumors and angiomyolipoma in TSC. Two patients with malignant arrhythmias related to nonsurgical multiple rhabdomyomas associated with TSC who were successfully treated with an mTOR inhibitor were described. Everolimus therapy showed significant regression of rhabdomyomas with rapid improvement of arrhythmias and heart failure prior to tumor shrinkage.
MeSH term(s)	Adolescent ; Adult ; Antineoplastic Agents/administration & dosage ; Child ; Child, Preschool ; Everolimus/administration & dosage ; Female ; Heart Neoplasms/complications ; Heart Neoplasms/drug therapy ; Heart Neoplasms/pathology ; Heart Ventricles/drug effects ; Heart Ventricles/pathology ; Humans ; Infant ; Infant, Newborn ; Male ; Rhabdomyoma/drug therapy ; Rhabdomyoma/pathology ; TOR Serine-Threonine Kinases/antagonists & inhibitors ; TOR Serine-Threonine Kinases/genetics ; Treatment Outcome ; Tuberous Sclerosis/complications ; Tuberous Sclerosis/drug therapy ; Tuberous Sclerosis/pathology ; Young Adult
Chemical Substances	Antineoplastic Agents ; Everolimus (9HW64Q8G6G) ; MTOR protein, human (EC 2.7.1.1) ; TOR Serine-Threonine Kinases (EC 2.7.1.1)
Language	English
Publishing date	2021-02-16
Publishing country	United States
Document type	Case Reports
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62120
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Article ; Online: Dynamics of SARS-CoV-2 mutations reveals regional-specificity and similar trends of N501 and high-frequency mutation N501Y in different levels of control measures

Santiago Justo Arevalo / Daniela Zapata Sifuentes / César J. Huallpa / Gianfranco Landa Bianchi / Adriana Castillo Chávez / Romina Garavito-Salini Casas / Carmen Sofia Uribe Calampa / Guillermo Uceda-Campos / Roberto Pineda Chavarría

Scientific Reports, Vol 11, Iss 1, Pp 1-

2021 Volume 11

Abstract: Abstract Coronavirus disease 2019 (COVID-19) is a contagious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). This disease has spread globally, causing more than 161.5 million cases and 3.3 million deaths to date. ... ...

Abstract	Abstract Coronavirus disease 2019 (COVID-19) is a contagious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). This disease has spread globally, causing more than 161.5 million cases and 3.3 million deaths to date. Surveillance and monitoring of new mutations in the virus’ genome are crucial to our understanding of the adaptation of SARS-CoV-2. Moreover, how the temporal dynamics of these mutations is influenced by control measures and non-pharmaceutical interventions (NPIs) is poorly understood. Using 1,058,020 SARS-CoV-2 from sequenced COVID-19 cases from 98 countries (totaling 714 country-month combinations), we perform a normalization by COVID-19 cases to calculate the relative frequency of SARS-CoV-2 mutations and explore their dynamics over time. We found 115 mutations estimated to be present in more than 3% of global COVID-19 cases and determined three types of mutation dynamics: high-frequency, medium-frequency, and low-frequency. Classification of mutations based on temporal dynamics enable us to examine viral adaptation and evaluate the effects of implemented control measures in virus evolution during the pandemic. We showed that medium-frequency mutations are characterized by high prevalence in specific regions and/or in constant competition with other mutations in several regions. Finally, taking N501Y mutation as representative of high-frequency mutations, we showed that level of control measure stringency negatively correlates with the effective reproduction number of SARS-CoV-2 with high-frequency or not-high-frequency and both follows similar trends in different levels of stringency.
Keywords	Medicine ; R ; Science ; Q
Language	English
Publishing date	2021-09-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Epicardial adipose tissue thickness in children and adolescents with cardiometabolic risk factors.

Reyes, Yubriangel / Paoli, Mariela / Camacho, Nolis / Molina, Yudisay / Santiago, Justo / Lima-Martínez, Marcos M

Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion

2016 Volume 63, Issue 2, Page(s) 70–78

Abstract: Objective: To assess the relationship of epicardial adipose tissue (EAT) thickness with cardiometabolic risk factors (CRFs) in children and adolescents.: Methods: Seventy-seven subjects of both sexes aged 7-18 years were selected. Medical history, ... ...

Abstract	Objective: To assess the relationship of epicardial adipose tissue (EAT) thickness with cardiometabolic risk factors (CRFs) in children and adolescents. Methods: Seventy-seven subjects of both sexes aged 7-18 years were selected. Medical history, clinical parameters, and glucose, insulin, and lipid levels were collected. EAT thickness was measured using transthoracic echocardiography. Study subjects were divided into two groups based on whether they had less than two or two or more CRFs. Results: The group with two or more CRFs had higher EAT thickness, insulin, and HOMA-IR values (P<.05). EAT thickness showed a statistically significant positive correlation with body mass index (BMI) (r=0.561, P=.0001), waist circumference (r=.549, P=.0001), systolic blood pressure (SBP) (r=.256, P=.028), insulin (r=0.408, P=.0001), and HOMA-IR (r=.325, P=.005). However, these correlations were not significant after adjustment for BMI. The cut-off point for EAT thickness as predictor of two or more CRFs was 3.17mm. The risk (odds ratio) of having two or more CRFs if EAT thickness was >3.17mm was 3.1 (95% CI: 1.174-8.022). BMI was the independent variable that most affected EAT thickness and the presence of two or more CRFs. Conclusion: In this group of children and adolescents, the relationship of EAT thickness with CRFs was found to be dependent on BMI.
MeSH term(s)	Adipose Tissue/diagnostic imaging ; Adolescent ; Blood Pressure ; Child ; Echocardiography ; Female ; Heart Diseases/epidemiology ; Humans ; Insulin/blood ; Male ; Metabolic Diseases/epidemiology ; Pericardium/diagnostic imaging ; Risk Factors ; Waist Circumference
Chemical Substances	Insulin
Language	Spanish
Publishing date	2016-02
Publishing country	Spain
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1469349-5
ISSN	1579-2021 ; 0211-2299 ; 1575-0922
ISSN (online)	1579-2021
ISSN	0211-2299 ; 1575-0922
DOI	10.1016/j.endonu.2015.09.007
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Article ; Online: A bipartite periplasmic receptor-diguanylate cyclase pair (XAC2383-XAC2382) in the bacterium

Teixeira, Raphael D / Guzzo, Cristiane R / Arévalo, Santiago Justo / Andrade, Maxuel O / Abrahão, Josielle / de Souza, Robson F / Farah, Chuck S

The Journal of biological chemistry

2018 Volume 293, Issue 27, Page(s) 10767–10781

Abstract: The second messenger cyclic diguanylate monophosphate (c-di-GMP) is a central regulator of bacterial lifestyle, controlling several behaviors, including the switch between sessile and motile states. The c-di-GMP levels are controlled by the interplay ... ...

Abstract	The second messenger cyclic diguanylate monophosphate (c-di-GMP) is a central regulator of bacterial lifestyle, controlling several behaviors, including the switch between sessile and motile states. The c-di-GMP levels are controlled by the interplay between diguanylate cyclases (DGCs) and phosphodiesterases, which synthesize and hydrolyze this second messenger, respectively. These enzymes often contain additional domains that regulate activity via binding of small molecules, covalent modification, or protein-protein interactions. A major challenge remains to understand how DGC activity is regulated by these additional domains or interaction partners in specific signaling pathways. Here, we identified a pair of co-transcribed genes (
MeSH term(s)	Amino Acid Sequence ; Bacterial Proteins/chemistry ; Bacterial Proteins/genetics ; Bacterial Proteins/metabolism ; Cell Movement ; Crystallography, X-Ray ; Cyclic GMP/metabolism ; Escherichia coli Proteins/chemistry ; Escherichia coli Proteins/genetics ; Escherichia coli Proteins/metabolism ; Mutation ; Periplasm/metabolism ; Phosphorus-Oxygen Lyases/chemistry ; Phosphorus-Oxygen Lyases/genetics ; Phosphorus-Oxygen Lyases/metabolism ; Protein Conformation ; Protein Interaction Domains and Motifs ; Sequence Homology ; Xanthomonas/enzymology ; Xanthomonas/genetics ; Xanthomonas/growth & development
Chemical Substances	Bacterial Proteins ; Escherichia coli Proteins ; Phosphorus-Oxygen Lyases (EC 4.6.-) ; diguanylate cyclase (EC 4.6.1.-) ; Cyclic GMP (H2D2X058MU)
Language	English
Publishing date	2018-05-04
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2997-x
ISSN	1083-351X ; 0021-9258
ISSN (online)	1083-351X
ISSN	0021-9258
DOI	10.1074/jbc.RA118.003475
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Article ; Online: Global Geographic and Temporal Analysis of SARS-CoV-2 Haplotypes Normalized by COVID-19 Cases during the First Seven Months of the Pandemic

Arévalo, Santiago Justo / Sifuentes, Daniela Zapata / Robles, César Huallpa / Bianchi, Gianfranco Landa / Chávez, Adriana Castillo / Casas, Romina Garavito-Salini / Uceda-Campos, Guillermo / Chavarría, Roberto Pineda

bioRxiv

Abstract: Since the identification of SARS-CoV-2, a large number of genomes have been sequenced with unprecedented speed around the world. This marks a unique opportunity to analyze virus spreading and evolution in a worldwide context. However, currently, there is ...

Abstract	Since the identification of SARS-CoV-2, a large number of genomes have been sequenced with unprecedented speed around the world. This marks a unique opportunity to analyze virus spreading and evolution in a worldwide context. However, currently, there is not a useful haplotype description to help to track important and globally scattered mutations. Also, differences in the number of sequenced genomes between countries and/or months make it difficult to identify the emergence of haplotypes in regions where few genomes are sequenced but a large number of cases are reported. We proposed an approach based on the normalization by COVID-19 cases of relative frequencies of mutations using all the available data to identify major haplotypes. Thus, we can use a similar normalization approach to tracking the global temporal and geographic haplotypes distribution in the world. Using 48 776 genomes, we identify 5 major haplotypes based on 9 high-frequency mutations. Normalized global geographic and temporal analysis is presented here highlighting the current importance of nucleocapsid mutations (R203K, G204R) above the highly discussed D614G in spike protein. Also, we analyzed age, gender, and patient status distribution by haplotypes, but scarce and not well-organized information about this is publicly available. For that, we create a web-service to continuously update our normalized analysis of mutations and haplotypes, and to allow researchers to voluntarily share patient status information in a well-organized manner to improve analyses and making possible monitor the emergence of mutations and/or haplotypes with patients preferences or different pathogenic features. Finally, we discuss currently structural and functional hypotheses in the most frequently identified mutations.
Keywords	covid19
Publisher	BioRxiv; WHO
Document type	Article ; Online
DOI	10.1101/2020.07.12.199414
Database	COVID19

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Article ; Online: Analysis of the Dynamics and Distribution of SARS-CoV-2 Mutations and its Possible Structural and Functional Implications

Arévalo, Santiago Justo / Sifuentes, Daniela Zapata / Robles, César Huallpa / Bianchi, Gianfranco Landa / Chávez, Adriana Castillo / Casas, Romina Garavito-Salini / Chavarría, Roberto Pineda / Uceda-Campos, Guillermo

bioRxiv

Abstract: After eight months of the pandemic declaration, COVID-19 has not been globally controlled. Several efforts to control SARS-CoV-2 dissemination are still running including vaccines and drug treatments. The effectiveness of these procedures depends, in ... ...

Abstract	After eight months of the pandemic declaration, COVID-19 has not been globally controlled. Several efforts to control SARS-CoV-2 dissemination are still running including vaccines and drug treatments. The effectiveness of these procedures depends, in part, that the regions to which these treatments are directed do not vary considerably. Although, it is known that the mutation rate of SARS-CoV-2 is relatively low it is necessary to monitor the adaptation and evolution of the virus in the different stages of the pandemic. Thus, identification, analysis of the dynamics, and possible functional and structural implication of mutations are relevant. Here, we first estimate the number of COVID-19 cases with a virus with a specific mutation and then calculate its global relative frequency (NRFp). Using this approach in a dataset of 100 924 genomes from GISAID, we identified 41 mutations to be present in viruses in an estimated number of 750 000 global COVID-19 cases (0.03 NRFp). We classified these mutations into three groups: high-frequent, low-frequent non-synonymous, and low-frequent synonymous. Analysis of the dynamics of these mutations by month and continent showed that high-frequent mutations appeared early in the pandemic, all are present in all continents and some of them are almost fixed in the global population. On the other hand, low-frequent mutations (non-synonymous and synonymous) appear late in the pandemic and seems to be at least partially continent-specific. This could be due to that high-frequent mutation appeared early when lockdown policies had not yet been applied and low-frequent mutations appeared after lockdown policies. Thus, preventing global dissemination of them. Finally, we present a brief structural and functional review of the analyzed ORFs and the possible implications of the 25 identified non-synonymous mutations.
Keywords	covid19
Publisher	BioRxiv; WHO
Document type	Article ; Online
DOI	10.1101/2020.11.13.381228
Database	COVID19

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Article: Vagal dysfunction and the pathogenesis of chronic Chagas disease.

Dávila, Diego F / Santiago, Justo J / Odreman, Wilmer A

International journal of cardiology

2005 Volume 100, Issue 2, Page(s) 337–339

Abstract: Vagal dysfunction is thought to be an early, primary and specific abnormality of chronic Chagas disease. However, chagasic patients with unequivocal evidence of heart disease, can have normal or abnormal vagal control of heart rate. A common explanation ... ...

Abstract	Vagal dysfunction is thought to be an early, primary and specific abnormality of chronic Chagas disease. However, chagasic patients with unequivocal evidence of heart disease, can have normal or abnormal vagal control of heart rate. A common explanation for these apparently discordant and contradictory results is proposed.
MeSH term(s)	Autoantibodies/blood ; Chagas Disease/complications ; Chagas Disease/immunology ; Chagas Disease/physiopathology ; Chronic Disease ; Heart Rate ; Humans ; Vagus Nerve Diseases/etiology ; Vagus Nerve Diseases/immunology ; Vagus Nerve Diseases/physiopathology ; Valsalva Maneuver
Chemical Substances	Autoantibodies
Language	English
Publishing date	2005-04-20
Publishing country	Netherlands
Document type	Letter
ZDB-ID	779519-1
ISSN	1874-1754 ; 0167-5273
ISSN (online)	1874-1754
ISSN	0167-5273
DOI	10.1016/j.ijcard.2004.11.006
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Article ; Online: Terapia de resgate com amiodarona em crianças com grave disfunção ventricular esquerda causada por veneno de escorpião.

Santiago, Justo J / Dávila, Carmen A Mazzei de / Davila, Diego F / Donis, Jose H / Villaroel, Vanesa

Arquivos brasileiros de cardiologia

2010 Volume 94, Issue 1, Page(s) 18–24

Abstract: Background: Children with scorpion envenomation have massive sympathetic activation and variable degrees of left ventricular systolic dysfunction.: Objective: To evaluate a rescue protocol for children with severe left ventricular dysfunction ... ...

Title translation	Antiadrenergic rescue therapy with amiodarone in children with severe left ventricular dysfunction secondary to scorpion envenomation.
Abstract	Background: Children with scorpion envenomation have massive sympathetic activation and variable degrees of left ventricular systolic dysfunction. Objective: To evaluate a rescue protocol for children with severe left ventricular dysfunction secondary to scorpion envenomation. Methods: Four children, after scorpion envenomation, were subjected to a rescue protocol for acute left ventricular dysfunction: Endotracheal intubation and respiratory assistance, electrocardiograms, chest x-Ray, echocardiograms and blood samples for norepinephrine and troponin I serum levels. Samples and echocardiograms were repeated at 12, 24 and 48 hours. Intravenous medications: Dobutamine: 4-6 microg/kg/min. Amiodarone: 3 mg/kg during a 2 hour period. Maintenance: 5 mg/kg/day. Furosemide: 0.5 mg/kg/dose. Diuretics were given when the systemic blood pressure was above percentile fifty. Amiodarone, Dobutamine and Furosemide were administered during the first 48 hours. Beta-adrenergic blockers and angiotensin converting enzyme were given, at 48 hours after admission, once the left ventricular Ejection fraction > 0.35 and the clinical status had improved. Results: On admission, norepinephrine was 1,727.50 +/-794.96 pg/ml, troponin I 24.53 +/- 14.09 ng/ml and left ventricular ejection fraction 0.20 +/- 0.056. At twelve hours, norepinephrine and troponin I serum levels were down to half of the initial values and the ejection fraction increased to 0.32 +/- 0.059. During the next 24 and 48 hours, the ejection fraction rose to 0.46 +/- 0.045, (p<0.01) and norepinephrine and troponin diminished to 526.75 +/- 273.73 (p < 0.02) and 2.20 +/- 2.36 (p<0.02) respectively. Conclusion: Amiodarone, by acting as a neuromodulator, is very likely responsible for the early and progressive decrease of serum norepinephrine.
MeSH term(s)	Adolescent ; Adrenergic Antagonists/therapeutic use ; Amiodarone/therapeutic use ; Child ; Child, Preschool ; Clinical Protocols/standards ; Female ; Humans ; Male ; Scorpion Venoms/poisoning ; Ventricular Dysfunction, Left/chemically induced ; Ventricular Dysfunction, Left/drug therapy
Chemical Substances	Adrenergic Antagonists ; Scorpion Venoms ; Amiodarone (N3RQ532IUT)
Language	Portuguese
Publishing date	2010-04-13
Publishing country	Brazil
Document type	English Abstract ; Journal Article
ZDB-ID	730261-7
ISSN	1678-4170 ; 0066-782X
ISSN (online)	1678-4170
ISSN	0066-782X
DOI	10.1590/s0066-782x2010000100005
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Article ; Online: Conducto arterioso persistente a la derecha con arco aórtico ipsolateral: cierre percutáneo con dispositivos Amplatzer.

Santiago, Justo / Acuña, Manuel / Arispe, Elizabeth / Camargo, Ronaldo / Neves, Juliana / Arnoni, Daniel / Fontes, Valmir F / Pedra, Carlos A

Revista espanola de cardiologia

2007 Volume 60, Issue 3, Page(s) 319–322

Abstract: The association of a right aortic arch with an ipsilateral patent ductus arteriosus is rare, especially when there are no other intracardiac anomalies. We report three female patients aged 26, 35 and 9 years with this combination in whom previous ... ...

Title translation	Right patent ductus arteriosus with an ipsilateral aortic arch: percutaneous closure with amplatzer devices.
Abstract	The association of a right aortic arch with an ipsilateral patent ductus arteriosus is rare, especially when there are no other intracardiac anomalies. We report three female patients aged 26, 35 and 9 years with this combination in whom previous attempts at surgical closure by thoracotomy and sternotomy were unsuccessful and who subsequently underwent successful percutaneous closure of the defects using Amplatzer devices. In two patients, although angiography demonstrated the presence of type-A patent ductus arteriosus, it was not possible to determine the minimum diameter accurately and it was necessary to measure it using a sizing balloon. An Amplatzer duct occluder was used in two patients and an Amplatzer muscular ventricular septal defect occluder, in the other. In all patients, full closure was confirmed in the catheterization laboratory and the patients were discharged on the same day with no complications. Percutaneous closure of a right patent ductus arteriosus associated with a right aortic arch is feasible, safe and effective.
MeSH term(s)	Abnormalities, Multiple/surgery ; Adult ; Aorta, Thoracic/abnormalities ; Aorta, Thoracic/surgery ; Child ; Ductus Arteriosus, Patent/surgery ; Embolization, Therapeutic/instrumentation ; Equipment Design ; Female ; Humans ; Prostheses and Implants
Language	Spanish
Publishing date	2007-03
Publishing country	Spain
Document type	English Abstract ; Journal Article
ZDB-ID	128925-1
ISSN	1579-2242 ; 0300-8932
ISSN (online)	1579-2242
ISSN	0300-8932
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