Results 161 to 170 of about 55,948 (258)

Association of Global Longitudinal Strain With Left Ventricular Remodeling and Left Ventricular Hypertrophy in Patients With Acute Myocardial Infarction After PCI: A Small Single‐Center Prospective Observational Study

Health Science Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background and Aims Among patients with acute myocardial infarction undergoing PCI, subsequent structural alterations of the left ventricle, including left ventricular remodeling (LVR) and left ventricular hypertrophy (LVH), may contribute to later heart failure.
Bing Wang, Hong Yao, Zhijian Zhu, Zhigang Lu, Yesheng Pan   +4 more
wiley   +1 more source

Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late‐Onset Pompe Patients

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT With increased survival due to enzyme replacement therapy, children with classic infantile Pompe disease tend to develop a clinical phenotype with pronounced distal muscle weakness, while late‐onset patients typically exhibit proximal muscle weakness.
Jan J. A. van den Dorpel, Mechteld E. Guldemond, Kevin R. Keene, Pieter A. van Doorn, Ans T. van der Ploeg, Johanna M. P. van den Hout, Hermien E. Kan, Nadine A. M. E. van der Beek   +7 more
wiley   +1 more source

Severe Mitral Regurgitation Triggered by Myocardial Ischemia in Hypertrophic Cardiomyopathy With Abnormalities of the Mitral Valve Complex. [PDF]

JACC Case Rep
Satoh T, Sakamoto A, Unno K, Suwa K, Tsukui H, Kawakami R, Akita K, Ohtani H, Okamoto K, Maekawa Y.   +9 more
europepmc   +1 more source

Long Term Follow‐Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Propionic acidemia (PA) is a rare inherited metabolic disorder associated with recurrent metabolic decompensations and chronic multisystemic complications. Liver transplantation (LT) may improve metabolic stability, but its long‐term impact on organ involvement remains debated.
Tristan Mekdade, Claire‐Marine Bérat, Manuel Schiff, Margaux Gaschignard, Juliette Bouchereau, Jean‐Baptiste Arnoux, Claire Francoz, Aude Servais, Myriam Dao, Vickie Lacroix, Julien Maquet, Apolline Imbard, Edouard Le Guillou, Clément Pontoizeau, Jean‐François Benoist, Mehdi Oualha, Marion Grimaud, Charles de Marcellus, Laurent Sabbah, Claire Mayer, Christophe Chardot, Carmen Capito, Diala Khraiche, Florence Lacaille, Pascale de Lonlay, Anaïs Brassier   +25 more
wiley   +1 more source

Multimodality Imaging in Hypertrophic Cardiomyopathy. [PDF]

Card Fail Rev
Escribano D, Díaz-Peláez E, Delgado V.
europepmc   +1 more source

Liver Cancer in Methylmalonic and Propionic Acidemias: A Rare Complication? A Clinico‐Pathological Study of 24 Livers

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT In methylmalonic (MMA) and propionic acidemias (PA), liver or liver‐kidney transplantation (Tx) is indicated for metabolic decompensations, kidney failure (MMA), and to improve quality of life. Liver cancer was reported in five patients with MMA.
Léa Zloty, Mouna Aoun, Carmen Capito, Anaïs Brassier, Guillaume Morcrette, Ugo Cucinotta, Laurène Dehoux, Claire Mayer, Jean‐Paul Duong Van Huynh, Apolline Imbard, Jean‐François Benoist, Christophe Chardot, Manuel Schiff, Pascale de Lonlay, Monique Fabre, Florence Lacaille   +15 more
wiley   +1 more source

The Multifaceted Role of Pyroptosis: Molecular Mechanisms, Crosstalk with Other Cell Death Pathways, and Therapeutic Implications

MedComm, Volume 7, Issue 7, July 2026.
Pyroptosis maintains immune homeostasis by eliminating damaged or infected cells, but its dysregulation promotes inflammation and cancer progression. The diagram illustrates key activation pathways, links with other programmed cell deaths, and cancer‐specific effects, enhancing its dual protective and pathogenic roles.
Diego Liviu Boaru, Patricia De Castro‐Martinez, Cielo Garcia‐Montero, Oscar Fraile‐Martinez, Majd N. Michael Alhaddadin, Silvestra Barrena‐Blázquez, Laura Lopez‐Gonzalez, Clara Tasende Fernández, Ricardo Alvarado‐Hurtado, Tomás Ratia Giménez, Inmaculada Lasa‐Unzúe, Manuel Díez Alonso, Alberto Gutiérrez‐Calvo, Miguel A. Saez, David Cobo‐Prieto, Jose V. Saz, Melchor Alvarez‐Mon, Raul Diaz‐Pedrero, Miguel A. Ortega   +18 more
wiley   +1 more source

COQ2‐Associated Primary Coenzyme Q10 Deficiency Presenting With Proteinuria: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We report a female pediatric patient with compound heterozygous *COQ2* variants (c.368G>A, c.908A>G) presenting PCOQ10D; high‐dose CoQ10 plus enalapril maleate resolved proteinuria and preserved renal function. ABSTRACT Background Primary coenzyme Q10 (CoQ10) deficiency (PCOQ10D) is an autosomal recessive mitochondrial disorder caused by pathogenic ...
Yuqi Yue, Fei Zhao, Qiuxia Chen
wiley   +1 more source

Identification of the MYH6 c.804G>C Synonymous Variant Causing Exon Skipping in a Hypertrophic Cardiomyopathy Family

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Although in silico tools predicted minimal splicing impact, functional minigene assays demonstrate that the synonymous MYH6 c.804G>C variant induces partial exon 10 skipping (~6.8% in HEK293T cells and ~4.7% in HeLa cells), supporting its potential contribution to HCM pathogenesis.
Songlin Zhang, Xiaohua Tang, Leixiang Yang, Yang Wang, Yong Cui, Xiaopan Chen   +5 more
wiley   +1 more source

A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study describes the largest reported cohort of infants with ELAC2‐related mitochondrial cardiomyopathy, identifying a shared homozygous founder variant among consanguineous Kuwaiti families. The findings highlight the mutation's uniformly severe phenotype, emphasizing the need for early genetic screening and targeted counseling in high‐risk ...
Hind Alsharhan, Worood Alostad, Alshaymaa A. Ali, Mohammad A. Ebrahim, Hesham A. F. Mohammed, Ahmad Alahmad, Hashem Alhashemi, Walid M. Hassan, Ahmad E. M. S. Alhaj, Rasha M. Alsafi, Buthaina Albash   +10 more
wiley   +1 more source