Results 191 to 200 of about 104,850 (291)

Infantile hypertrophic cardiomyopathy masquerading as cardiac tamponade: A case report. [PDF]

SAGE Open Med Case Rep
Sembiring TSR, Adam MF.
europepmc   +1 more source

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Riboflavin (RF, vitamin B2) is an essential vitamin of which the co‐factors are critical to numerous cellular processes. RF is used as a treatment for inherited metabolic diseases (IMDs), although its effectiveness in many disorders has not been established.
Bregje Jaeger, Nina N. Stolwijk, Femke Aaldering, Charlotte A. Ruys, Marije Smits, Nicole I. Wolf, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

Cardiac imaging in hypertrophic cardiomyopathy and cardiac amyloidosis: a narrative review. [PDF]

Front Cardiovasc Med
Maggialetti N, Scardapane A, Muscogiuri E, Torrente A, Lorusso G, De Marco L, Rella M, Fanigliulo G, Mariano M, Stabile Ianora AA.   +9 more
europepmc   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1427-1430, June 2026.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

Adolescent Athlete With PRKAG2 Hypertrophic Cardiomyopathy: A Success Story With Shared Decision-Making. [PDF]

JACC Case Rep
Russell WW, Paridon S, O'Malley S, Brothers J, Stephens P, Srinivasan C, Edelson JB.   +6 more
europepmc   +1 more source

A Novel Mechanism of Salvianolic Acid B in Postmyocardial Infarction Cardiac Protection: PHB1‐Driven Raf‐ERK Pathway Activation Promotes Cardiomyocyte Mitosis

MedComm, Volume 7, Issue 5, May 2026.
SalB binds to the C‐terminal of PHB1/2 heterodimer, inducing a conformational change that enhances Raf‐ERK pathway activation via Akt‐mediated phosphorylation, thereby promoting cardiomyocyte mitosis. ABSTRACT Heart failure (HF) following myocardial infarction remains a leading cause of global morbidity and mortality, necessitating novel therapeutic ...
Ce Cao, Bo Ma, Jian Zhang, Lili Yang, Zixin Liu, Haoran Li, Jianshu Song, Keer Zhang, Lei Li, Jianhua Fu, Jianxun Liu   +10 more
wiley   +1 more source

Heterogeneous Myocardial Adaptation to Pressure Overload Reveals a Spared, Vulnerable Segment Identified by Multiparametric Cardiac MRI

NMR in Biomedicine, Volume 39, Issue 5, May 2026.
Graphical summary of a longitudinal multiparametric MRI study in mouse TAC model, showing imaging at baseline, 3 days, 4 weeks and 7 weeks. All TAC animals developed global LV hypertrophy (+62% LV mass at week 7), but half displayed a spared‐hypertrophy basolateral region.
Vitali Koch, Andreas T. Ochs, Simon Martin, Thomas Vogl, Marco M. Ochs, David M. Leistner, Sebastian M. Haberkorn   +6 more
wiley   +1 more source

Predictors of Higher Mavacamten Maintenance Dose in Obstructive Hypertrophic Cardiomyopathy. [PDF]

Mayo Clin Proc Innov Qual Outcomes
Suppah M, Abdullah HA, Badr A, Ibrahim R, Farina J, Ayoub C, Arsanjani R, Geske J, Alsidawi S.   +8 more
europepmc   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source