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Lidiane Castro Pinto, Nancy Mizue Kokitsu-Nakata, Gisele da Silva Dalben, Lucas José de Azevedo Silva, Ana Lúcia Pompéia Fraga de Almeida
OBJECTIVE: This study analyzed the systemic and oral abnormalities in individuals with Kabuki syndrome (KS) that might be investigated to enhance the early diagnosis and treatment by a multidisciplinary team, minimizing the consequences to the individual's health. STUDY DESIGN: Clinical examination was conducted on 15 individuals to investigate orodental alterations such as tooth abnormalities and cleft lip and/or palate, and the patient records were also reviewed to investigate systemic diseases such as cardiopathies, infectious and immunologic diseases, nephropathies, and delayed neuropsychomotor development...
December 29, 2023: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
#2
JOURNAL ARTICLE
Ami Echua Manzan Avoh, Yves N'da Kouakou N'goran, Marie Paul N'cho-Mottoh, Diaby Fatou Traore, Micesse Tano-Akoto, Cedrick Zole Doh, Legre Vy, Kacou Jean-Baptiste Anzouan, Kouadio Euloge Kramoh
INTRODUCTION AND OBJECTIVES: In contrast to developed countries, cardiac CT is not widely used in West Africa for the assessment of congenital heart disease, and has only recently been introduced in Côte d'Ivoire. The lack of data prompted this study, the aim of which was to describe our experience of the contribution of CT to the management of congenital heart disease in the Ivorian cardiology setting. PATIENTS AND METHOD: This was a prospective study which took place in the pediatric cardiology department over a period of 9 months (September 2022 to June 2023) which included all patients with congenital heart disease explored by echocardiography and cardiac scan...
March 1, 2024: Annales de Cardiologie et D'angéiologie
#3
JOURNAL ARTICLE
Gustavo Marquezani Spolador, Fernanda Bastos, Rita Tiziana Verardo Polastrini, Ivete Zoboli, Ana Cristina Henrique, Joaquim Pinheiro Vieira Filho, Mariana Ribeiro Marcondes da Silveira, Elaine Freitas, Andréa Gislene do Nascimento, Silvia Maria de Macedo Barbosa
Background: The pediatric palliative care (PPC) sets up an interdisciplinary approach of chronic complex diseases throughout birth to adolescence. It encompasses countless contrasts in development and diagnosis scopes, which make this area a challenge to nonpediatric practitioners. Objective: We sought to assess the most prevalent diseases in follow-up of the PPC team. Methods: We analyzed the medical records of PPC clinic during the years 2001 and 2021 and the diagnosis of outpatients. We established a parallel with the world scientific literature concerning the epidemiology of PPC...
February 22, 2024: Journal of Palliative Medicine
#4
JOURNAL ARTICLE
Omar Ait Mokhtar, Karima Hamidouche, Nadjet Amini, Younes Boudjemline, Abdelmalek Azzouz, Salim Benkhedda
We describe herein a case of a 16 years-old female patient referred to our department for further exploration of a chest pain. Color Doppler echocardiography revealed an abnormal flow at the level of the pulmonary artery. Exercise testing was abnormal leading to further imaging including computed cardiac tomography followed by coronary angiography which showed anomalous origin of the right coronary artery from the pulmonary artery (ARCAPA) associated with mid shaft left main stenosis. We discuss this uncommon association and therapeutic options...
February 10, 2024: Annales de Cardiologie et D'angéiologie
#5
JOURNAL ARTICLE
Paola Franceschi, A Balducci, E Nardi, F Niro, D Attinà, V Russo, A Donti, E Angeli, G D Gargiulo, L Lovato
BACKGROUND: Patients with repaired Tetralogy of Fallot (rTOF) often develop pulmonary regurgitation (PR) and right ventricle (RV) dysfunction, experiencing increased mortality and morbidity rates in adulthood. Pulmonary valve replacement (PVR) timing to address PR is controversial. Cardiac Magnetic Resonance (CMR) is the gold standard for morpho-functional evaluation of complex cardiopathies. This study aims to identify CMR parameters predictive of adverse outcomes to help defining the best therapeutic management of rTOF patients...
January 3, 2024: BMC Cardiovascular Disorders
#6
JOURNAL ARTICLE
Gianluca Rigatelli, Marco Zuin
Atrial septal defects (ASD) and Patent foramen ovale (PFO) represent the most common congenital heart diseases (CHD) adulthood. These two clinical entities, having different embryological origin, as well as clinical manifestations, clinical course and treatment must be carefully distinguished. Right heart failure and pulmonary hypertension are considered the major determinants of morbidity and mortality in ASD. Conversely, new pathophysiology concepts have been raised in the management of PFO as left atrium cardiopathy...
December 9, 2023: European Journal of Internal Medicine
#7
REVIEW
Stéphanie Ibrahim, Bénédicte Gaborit, Marien Lenoir, Gwenaelle Collod-Beroud, Sonia Stefanovic
Congenital heart defects (CHDs) are the most common form of birth defects in humans. They occur in 9 out of 1000 live births and are defined as structural abnormalities of the heart. Understanding CHDs is difficult due to the heterogeneity of the disease and its multifactorial etiology. Advances in genomic sequencing have made it possible to identify the genetic factors involved in CHDs. However, genetic origins have only been found in a minority of CHD cases, suggesting the contribution of non-inherited (environmental) risk factors to the etiology of CHDs...
November 13, 2023: International Journal of Molecular Sciences
#8
Amanda Baptistella, Ana Júlia A Rossato, Beatriz C de Gusmão, Carolina M Cunha, Luiza F Trafane, Paulo C M Colbachini
BACKGROUND: patients with congenital cardiopathies are the main group at risk for infective endocarditis (IE) in the pediatric population. Fungal etiology is responsible for 2%-4% of all IEs, and the Trichosporon genus is an increasingly prevalent cause of infections in human beings. CASE PRESENTATION: We describe a 9-year-old male with multiple surgical procedures to correct congenital cardiopathy defects, including insertion of RV-PA conduit, who was admitted due to suspicion of pneumonia and needed a surgical approach after being diagnosed with a mycotic pseudoaneurysm in the right ventricle's outflow tract, with dilation of the RV-PA conduit...
2023: Frontiers in Pediatrics
#9
JOURNAL ARTICLE
Clément Karsenty, Anthony Touafchia, Magalie Ladouceur, François Roubille, Eric Bonnefoy, Laurent Bonello, Guillaume Leurent, Bruno Levy, Sébastien Champion, Pascal Lim, Francis Schneider, Alain Cariou, Hadi Khachab, Jeremy Bourenne, Marie-France Seronde, Brahim Harbaoui, Gérald Vanzetto, Charlotte Quentin, Xavier Delabranche, Nicolas Combaret, Olivier Morel, Benoit Lattuca, Laurent Leborgne, Emmanuelle Fillippi, Edouard Gerbaud, Clara Brusq, Vanina Bongard, Nicolas Lamblin, Etienne Puymirat, Clément Delmas
BACKGROUND: Data on cardiogenic shock in adults with congenital heart disease (ACHD) are scarce. AIM: We sought to describe cardiogenic shock in ACHD patients in a nationwide cardiogenic shock registry. METHODS: From the multicentric FRENSHOCK registry (772 patients with cardiogenic shock from 49 French centres between April and October 2016), ACHD patients were compared with adults without congenital heart disease (non-ACHD). The primary outcome was defined by all-cause mortality, chronic ventricular assist device or heart transplantation at 1year...
August 2, 2023: Archives of Cardiovascular Diseases
#10
JOURNAL ARTICLE
Élise Sarrouilhe, Laurie Ponteins
Half of all children with congenital heart disease develop specific neurodevelopmental disorders. As these are influenced as much by factors intrinsic to the pathology as by the environmental and family support that the young patient receives from birth, the team at the congenital heart disease unit at Bordeaux's university hospital has devised an individualized global pathway for these families to support the neurodevelopment of these toddlers from the antenatal period onwards.
2023: Soins. Pédiatrie, Puériculture
#11
JOURNAL ARTICLE
The three-noes right-sided infective endocarditis: An unrecognized type of right-sided endocarditis.
Gonzalo Cabezón, Javier López, Isidre Vilacosta, Gilbert Habib, José María Miró, Carmen Olmos, Cristina Sarriá, Marta Hernandez-Meneses, Carlos González-Juanatey, José Ramón González-Juanatey, Jaume Llopis, Guillermo Cuervo, Carmen Sáez, Itziar Gómez, J Alberto San Román
The "3 noes right-sided infective endocarditis" (3no-RSIE: no left-sided, no drug users, no cardiac devices) was first described more than a decade ago. We describe the largest series to date to characterize its clinical, microbiological, echocardiographic and prognostic profile. Eight tertiary centers with surgical facilities participated in the study. Patients with right-sided endocarditis without left sided involvement, absence of drug use history and no intracardiac electronic devices were retrospectively included in a multipurpose database...
July 21, 2023: Medicine (Baltimore)
#12
REVIEW
W Deb, M Joubert, B Cogné, M Vincent, L Ghesh, S Bézieau, C Le Vaillant, C Beneteau
Signs of skeletal dysplasias are relatively common in fetuses with abnormal ultrasound (US) findings. The diversity of congenital skeletal disorders, the possibility of late-onset severe phenotypes and overlapping syndromes can be a challenge in the way of diagnosis, even if prenatal high-throuput sequencing allows for a better diagnosis, prognosis and genetic counseling. Hajdu-Cheney spectrum pathologies are rarely described in prenatal, and the signs associated remain poorly known, and do not include specific postnatal signs as acro-osteolysis and premature osteoporosis...
July 2023: European Journal of Medical Genetics
#13
Tiago Branco, Ana Barbosa, Nelson Cunha, João Gouveia, João M Lopes
Brugada syndrome (BrS) is a congenital channelopathy associated with an increased risk of malignant ventricular arrhythmias and sudden cardiac death in individuals without any structural cardiopathy. Brugada phenocopies (BrPs) are clinical entities that present electrocardiographic patterns similar to those of BrS that are elicited only under transitory pathophysiological conditions, with normalization of the ECG pattern after the resolution of those conditions. We present a rare case of BrP due to intracranial hemorrhage...
March 2023: Curēus
#14
REVIEW
Ugo Sorrentino, Ilaria Gabbiato, Chiara Canciani, Davide Calosci, Chiara Rigon, Daniela Zuccarello, Matteo Cassina
The TNNI3 gene encodes for the cardiac isoform of troponin I, a pivotal component of the sarcomeric structure of the myocardium. While heterozygous TNNI3 missense mutations have long been associated with autosomal dominant hypertrophic and restrictive cardiomyopathies, the role of TNNI3 null mutations has been more debated due to the paucity and weak characterization of reported cases and the low penetrance of heterozygous genotypes. In recent years, however, an increasing amount of evidence has validated the hypothesis that biallelic TNNI3 null mutations cause a severe form of neonatal dilated cardiomyopathy...
March 19, 2023: Genes
#15
Samia Magotteaux, Nesrine Farhat, Adeline Jacquinet, Marie-Christine Seghaye
We present the case of a young girl in whom pre-natal echocardiography showed double outlet right ventricle associated with severe infundibular- and pulmonary valve stenosis. The genetic testing has shown a mutation on the LZTR1 gene, which confirms the diagnosis of a Noonan Syndrome, also present in the mother and an elder sister. The infant was born premature at 34 weeks and 5 days of gestational age. During the neonatal period, feeding difficulties are noted linked to oral aversion and exacerbated by difficulties in the mother-child bond...
March 2023: Revue Médicale de Liège
#16
JOURNAL ARTICLE
Zaineb Bourouhou, Asmae Bouamoud, Najlae Salmi, Marouane Bouazaze, Rachida Amri
Absent pulmonary valve syndrome is a rare congenital heart disease. Associated with ventricular septal defect, it is considered a rare variant of Tetralogy of Fallot "Tetralogy of Fallot with absent pulmonary valve syndrome". It is characterized by its association with aneurysmal pulmonary arteries responsible for airways compression. Survival to adulthood of this unrepaired congenital heart disease is very rare, and the case of the patient we report in this article is added to the rare cases reported in the literature...
December 17, 2022: Annales de Cardiologie et D'angéiologie
#17
JOURNAL ARTICLE
Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri, Rosario Lopez-Rodriguez, Rebeca Losada-Del Pozo, Ignacio Mahillo-Fernandez, Beatriz Moreno, Maria Rodrigo-Moreno, Didac Casas-Alba, Aitor Lopez-Gonzalez, Sixto García-Miñaúr, Maria Ángeles Mori, Marta Pacio-Minguez, Emi Rikeros-Orozco, Fernando Santos-Simarro, Jaime Cruz-Rojo, Juan Francisco Quesada-Espinosa, Maria Teresa Sanchez-Calvin, Jaime Sanchez-Del Pozo, Raquel Bernado Fonz, Maria Isidoro-Garcia, Irene Ruiz-Ayucar, Maria Isabel Alvarez-Mora, Raquel Blanco-Lago, Begoña De Azua, Jesus Eiris, Juan Jose Garcia-Peñas, Belen Gil-Fournier, Carmen Gomez-Lado, Nadia Irazabal, Vanessa Lopez-Gonzalez, Irene Madrigal, Ignacio Malaga, Beatriz Martinez-Menendez, Soraya Ramiro-Leon, Maria Garcia-Hoyos, Pablo Prieto-Matos, Javier Lopez-Pison, Sergio Aguilera-Albesa, Sara Alvarez, Alberto Fernández-Jaén, Isabel Llano-Rivas, Blanca Gener-Querol, Carmen Ayuso, Ana Arteche-Lopez, Maria Palomares-Bralo, Anna Cueto-González, Irene Valenzuela, Antonio Martinez-Monseny, Isabel Lorda-Sanchez, Berta Almoguera
BACKGROUND: KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving ANKRD11 cause KBG syndrome, but no genotype-phenotype correlation has been reported. METHODS: 67 patients with KBG syndrome were assessed using a custom phenotypical questionnaire. Manifestations present in >50% of the patients and a 'phenotypical score' were used to perform a genotype-phenotype correlation in 340 patients from our cohort and the literature...
November 29, 2022: Journal of Medical Genetics
#18
JOURNAL ARTICLE
Melissa Calzada-Dávila, Geovana Calvo-Anguiano, Laura E Martínez-de-Villarreal, José J Lugo-Trampe, Sandra M González-Peña, Patricia R Ancer-Rodríguez, María D Hernández-Almaguer, Luis D Campos-Acevedo
(1) Background: The interaction between single nucleotide variants (SNVs) associated with congenital heart diseases (CHDs) and their gene methylation status has not been well researched. The aim of the present study was to determine if there is a relationship between the methy lation status (MS) of genes and the allelic variants associated with CHDs. (2) Methods: Seven SNVs of the genes AXIN1 , TBX1 , TBX20 , and MTHFR were selected from the literature. DNA extraction, genotyping, and a methylation analysis were performed on healthy subjects and subjects with CHDs...
November 15, 2022: Genes
#19
REVIEW
Donald Bajia, Emanuela Bottani, Katarzyna Derwich
Noonan syndrome (NS) and related Noonan syndrome with multiple lentigines (NSML) contribute to the pathogenesis of human diseases in the RASopathy family. This family of genetic disorders constitute one of the largest groups of developmental disorders with variable penetrance and severity, associated with distinctive congenital disabilities, including facial features, cardiopathies, growth and skeletal abnormalities, developmental delay/mental retardation, and tumor predisposition. NS was first clinically described decades ago, and several genes have since been identified, providing a molecular foundation to understand their physiopathology and identify targets for therapeutic strategies...
October 1, 2022: Cells
#20
JOURNAL ARTICLE
Marion Aubert-Mucca, Céline Huber, Genevieve Baujat, Caroline Michot, Mohammed Zarhrate, Marc Bras, Lucile Boutaud, Valérie Malan, Tania Attie-Bitach, Valerie Cormier-Daire
BACKGROUND: Ellis-Van Creveld (EVC) syndrome is one of the entities belonging to the skeletal ciliopathies short rib-polydactyly subgroup. Major signs are ectodermal dysplasia, chondrodysplasia, polydactyly and congenital cardiopathy, with a high degree of variability in phenotypes ranging from lethal to mild clinical presentations. The EVC and EVC2 genes are the major genes causative of EVC syndrome. However, an increased number of genes involved in the ciliopathy complex have been identified in EVC syndrome, leading to a better understanding of its physiopathology, namely, WDR35 , GLI1 , DYNC2LI1 , PRKACA , PRKACB and SMO ...
August 4, 2022: Journal of Medical Genetics
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