Results 31 to 40 of about 111 (80)

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Free sialic acid storage disorder (FSASD) is a lysosomal storage disorder that results from biallelic pathogenic variants in the SLC17A5 gene. This gene codes for sialin, a 12‐transmembrane domain protein that exports the charged sugar N‐acetylneuraminic acid (Neu5Ac; sialic acid) out of the lysosome.
Zoe Wolfenson, Gabriella Grois, Ruth F. Hailemeskel, Marla Sabaii, Laryssa A. Huryn, Wadih M. Zein, Tanya Lehky, Audrey Thurm, Lisa Joseph, Eva H. Baker, Gilbert Vezina, Keith Hyland, Laura Pollard, Ellen Macnamara, Andrea Gropman, May C. Malicdan, William A. Gahl, David R. Adams, Lynne Wolfe   +18 more
wiley   +1 more source

Bloqueio aurículo-ventricular de alto grau induzido por angina de Prinzmetal

Revista Portuguesa de Cardiologia, 2012
Resumo: Apresentamos o caso de uma mulher de 46 anos com episódios frequentes de dor precordial e síncope associados a elevação do segmento ST e períodos de bloqueio aurículo-ventricular de alto grau transitórios.
Filipa Ferreira, Lorette Cardona, Bruno Valente, João Abreu, Eduardo Antunes, Lurdes Ferreira, José Alberto Oliveira, Rui Ferreira   +7 more
doaj   +1 more source

The Effects of Supraphysiological Estrogen Levels Observed During In Vitro Fertilization Treatment on Cardiac Electrophysiology

Annals of Noninvasive Electrocardiology, Volume 31, Issue 2, March 2026.
Supraphysiological estradiol levels during IVF significantly prolong PR, QTc, J‐Tpeak, and Tp‐e intervals on ECG, suggesting altered atrial and ventricular conduction. These findings highlight a potential pro‐arrhythmic effect of high E2 states and underscore the need for cardiac monitoring in at‐risk IVF patients. ABSTRACT Supraphysiological estradiol
Burhan Savaş, Dilay Gök Korucu, Gülay Gök   +2 more
wiley   +1 more source

Clinical and epidemiological profile of patients with acute coronary syndrome

Revista de Enfermagem da UFPI, 2020
DOI: https://doi.org/10.26694/reufpi.v3i2.1895 Objetivo: A pesquisa teve como objetivo analisar o perfil clínico e epidemiológico dos pacientes com Síndrome Coronariana Aguda atendidos em um Hospital de Urgência.
Daniele Fernanda de Araújo, Eronice Ribeiro de Morais Araújo, Marta Rosana Viana da Silva, Naldiana Cerqueira Silva, Maria do Socorro Oliveira Guimarães, Francina Lopes Amorim Neta
doaj  

Insuficiência aórtica aguda por avulsão de comissura valvar aórtica Acute aortic insufficiency due to avulsion of aortic valve comissure

Brazilian Journal of Cardiovascular Surgery, 2012
Paciente do sexo masculino, de 66 anos, previamente hipertenso, com história de ortopneia, palpitações e dor precordial de início súbito, que teve o diagnóstico de avulsão espontânea de uma comissura valvar aórtica e consequente insuficiência aórtica ...
Claudio Ribeiro da Cunha, Paulo César Santos, Fernando Antibas Atik, Daniel Oliveira de Conti   +3 more
doaj   +1 more source

Surgical Management of Kartagener's Syndrome With Bronchiectasis in a Pediatric Patient: A Case Report on Right Lower Lung Lobectomy in a 9‐Year‐Old Female

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Kartagner syndrome is a rare congenital autosomal recessive disorder of ciliary movement, characterized by triad of chronic sinusitis, situs inversus and bronchiectasis leading to recurrent chest and sinuses infections. The primary objectives of this case report is to highlight the presentation of this rare disorder, its surgical challenge ...
Pakeezah Tabasum, Makhdooom Bilawal, Priya Devi, Waseem Sajjad, Ali Raza Brohi, Mohammed Hammad Jaber Amin   +5 more
wiley   +1 more source

Cardiopulmonary and skeletal muscle strategies underlying exhaustive exercise in adults with glycogen storage disease type III

Physiological Reports, Volume 14, Issue 4, February 2026.
Abstract People with glycogen storage disease type III (GSDIII‐p) have a remarkably reduced exercise tolerance. Aim of this study was to analyze the oxygen transport‐utilization chain strategies adopted by GSDIII‐p during exercise. Nine GSDIII‐p (39.4 ± 10.0 year, 33% female) and 11 healthy controls (CTRL), age and gender matched, underwent an ...
F. Lanfranconi, L. Peli, L. Pollastri, A. Ferri, L. Tremolizzo, E. Conti, F. Pieruzzi, G. Miserocchi, E. Beretta, M. Marzorati, W. Zardo, S. Gasperini, R. Pretese, S. Paci, C. Capelli, R. Mariani, A. Cattoni, A. C. Balduzzi, R. Parini   +18 more
wiley   +1 more source

Associação entre achados abreugráficos de cardiomegalia e manifestações clínicas Association between X-ray evidence of cardiomegalia and clinical manifestations

Revista de Saúde Pública, 1987
Com o objetivo de estudar possível associação entre achados abreugráficos de cardiomegalia e sinais e/ou sintomas clínicos registrados na primeira consulta, foram analisados os prontuários de 700 pacientes atendidos no Hospital das Clínicas da Faculdade ...
Afonso Dinis Costa- Passos, João Cláudio Flores-Cardoso, Antônio Ruffino-Netto   +2 more
doaj   +1 more source

Acute Reduction in Blood Flow in the Right Coronary Artery After PCI Facilitates Pacemaker‐Induced Ventricular Fibrillation

Annals of Noninvasive Electrocardiology, Volume 31, Issue 1, January 2026.
We present a case involving pacemaker sensing dysfunction caused by acute reduction in blood flow in the right coronary artery. The pacing spikes occurred progressively earlier on the T waves, eventually resulting in R‐on‐T pacing that triggered VF. ABSTRACT Asynchronous pacing itself does not directly lead to the development of malignant ventricular ...
Bo Wu, Yaqin Chen, Jianjun Tang, Jia He
wiley   +1 more source

Teste ergométrico: valor prognóstico em pacientes idosos com doença aterosclerótica coronariana estável Exercise stress test: prognostic value for elderly patients with stable coronary atherosclerosis

Arquivos Brasileiros de Cardiologia, 2006
OBJETIVO: Estudar o valor prognóstico das variáveis do teste ergométrico em pacientes idosos com doença aterosclerótica coronariana e isquemia induzida pelo esforço.
Marcelo Eidi Ochiai, Otávio C. E. Gebara, João Batista Serro-Azul, Lígia B. Pinto, Amit Nussbacher, Humberto Pierri, Mauricio Wajngarten   +6 more
doaj   +1 more source