Results 91 to 100 of about 324,192 (243)

Mitochondrial Diseases: Molecular Pathogenesis and Therapeutic Advances

MedComm, Volume 6, Issue 9, September 2025.
Key pathogenic mechanisms—OXPHOS defects, heteroplasmy, impaired mtDNA repair, disrupted dynamics/mitophagy, and inflammatory signaling—drive multiorgan involvement in mitochondrial diseases. Targeted interventions include metabolic drugs (CoQ10, idebenone, EPI‐743), mitochondrial gene editing (DdCBE, mitoBEs, CyDENT/mitoTALEN/mtZFN), and mitochondrial
Jialun Mei, Peng Ding, Chuan Gao, Jian Zhou, Zhiwei Li, Changqing Zhang, Junjie Gao   +6 more
wiley   +1 more source

Socio‐Epidemiological Correlates of Anemia Among Non‐Pregnant Females of East and West Uttar Pradesh, India: A NFHS‐5 Secondary Data Analysis Highlighting the Need for Precision Public Policy

Public Health Challenges, Volume 4, Issue 3, September 2025.
ABSTRACT Anemia remains a persistent public health challenge in India, disproportionately affecting women and undermining maternal and reproductive health outcomes. Despite nationwide efforts, the burden of anemia continues to vary widely across regions, reflecting complex socio‐demographic determinants.
Sonam Maheshwari, Richa Sinha, Neil Patel, Okashah Kaiwan, Avisham Goyal, Oroshay Kaiwan, Inderbir Padda, Nidhi Uniyal, Mohammed K. Suhail, Talha Bin Emran, Nirja Kaka, Yashendra Sethi   +11 more
wiley   +1 more source

Comprehensive Pan‐Cancer Analysis of TRNT1 as a Potential Biomarker for Breast Cancer

Journal of Cellular and Molecular Medicine, Volume 29, Issue 18, September 2025.
ABSTRACT TRNT1, an RNA nucleotide transferase, plays a critical role in cellular processes and may be involved in cancer. However, its role in cancer has not been fully explored. This study aims to explore the potential significance of TRNT1 in cancer, particularly in breast cancer (BC) progression and prognosis.
Xinwei Li, Yue Meng, Bing Gu
wiley   +1 more source

Analysis of X chromosome inactivation in autism spectrum disorders. [PDF]

, 2008
International audienceAutism spectrum disorders (ASD) are complex genetic disorders more frequently observed in males. Skewed X chromosome inactivation (XCI) is observed in heterozygous females carrying gene mutations involved in several X-linked ...
Anckarsäter, Henrik, Bacchelli, Elena, Battaglia, Agatino, Betancur, Catalina, Blasi, Francesca, Botros, Hany Goubran, Bourgeron, Thomas, Carone, Simona, Chaste, Pauline, Delorme, Richard, Durand, Christelle M., Fauchereau, Fabien, Gillberg, Christopher, Gillberg, I. Carina, Gong, Xiaohong, Green, Jonathan, Jarvela, Irma, Lamb, Janine, Leboyer, Marion, Maestrini, Elena, Moreno-De-Luca, Daniel, Mouren-Simeoni, Marie Christine, Nummela, Ilona, Nygren, Gudrun, Rastam, Maria, Rossi, Mari, Toma, Claudio   +26 more
core   +4 more sources

Risk of hypertensive disorders in pregnancies with non‐immune hydrops fetalis and single fetal effusions

Pregnancy, Volume 1, Issue 4, July 2025.
Abstract Introduction Hydrops fetalis carries high risks of morbidity and mortality for the fetus, as well as obstetric risks such as hypertensive disorders, or mirror syndrome, for the pregnant person. We aimed to characterize the prevalence and types of hypertensive disorders diagnosed in pregnancies with non‐immune hydrops fetalis and single ...
Natalie B. Gulrajani, Diana C. Robles, Juan M. Gonzalez, Mary E. Norton, Teresa N. Sparks   +4 more
wiley   +1 more source

Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia

Clinical Case Reports, 2018
Key Clinical Message The case of an infant girl with severe congenital sideroblastic anemia associated with a novel molecular defect in mitochondrial transporter SLC25A38 is presented.
Min Hee Kim, Sanjay Shah, Sylvia S. Bottomley, Niketa C. Shah   +3 more
doaj   +1 more source

Nutritional status, hematological and serum levels of iron in preschool children from cities with different child development indexes [PDF]

, 2008
OBJECTIVE: To evaluate nutritional status and iron hematological and serum levels of preschool children from cities with different child development indexes (CDI).
Amancio, Olga Maria Silverio, Oliveira, Fernanda Luisa Ceragioli, Oliveira, Wilson Luis de   +2 more
core   +3 more sources

Real‐world insights from a cohort of approximately 2000 individuals who were analysed using a freely available next‐generation sequencing anaemia screening programme

British Journal of Haematology, Volume 206, Issue 6, Page 1853-1856, June 2025.
Data from a large cohort of individuals referred for NGS testing evaluate the utility of next‐generation sequencing in clinical practice for diagnosing hereditary haemolytic anaemias.
Jorune Balciuniene, Saliha Yilmaz, Satheesh Chonat, Rachael F. Grace, Gerald A. Soff, Yaddanapudi Ravindranath, Bertil Glader, Paola Bianchi, Bryan McGee, Archana M. Agarwal, Geetha Puthenveetil   +10 more
wiley   +1 more source

Case of Mitochondrial Encephalomyopathy secondary to COVID-19 in a Pediatric case of SIFD syndrome with a novel TRNT1 mutation

Clinical Immunology Communications
Syndrome of Congenital Sideroblastic Anemia, B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD) is caused by mutations in the tRNA nucleotidyltransferase 1 (TRNT1) gene.
Amer Khojah, Lauren Gunderman, Ameera Bukhari, Aisha Mirza, Madeline Schutt, Aisha Ahmed   +5 more
doaj   +1 more source

Chelation therapy in children

Медицинский совет, 2016
Iron overload (RV) is a condition caused by excessive intake of iron, and in the absence of the specific mechanisms for its excretion - excessive accumulation in tissues and their subsequent lesion leading to functional organ failure [1].
M. V. Krasolnikova
doaj   +1 more source