Results 171 to 180 of about 6,331 (227)

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

Implementação de uma linha de aconselhamento telefónico de enfermagem no hospital dia de hemofilia

, 2013
O presente trabalho foca-se na problemática que a equipa de enfermagem enfrenta no dia-a-dia, no atendimento telefónico, encaminhamento e aconselhamento do doente/família com hemofilia e outras doenças hemorrágicas congénitas e adquiridas, que contatam telefonicamente o Hospital de Santa Maria  Hospital de dia de Hemofilia.
openaire   +1 more source

Clinical and Neurodevelopmental Course in a Case of EFNB1‐Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
A 14‐year‐old individual presented with an uncorrected bicoronal craniosynostosis that was diagnosed during clinical examination. She had craniofrontonasal syndrome (CFNS) with facial dysmorphology, microcephaly, and mild intellectual disability. Her CFNS was explained by a likely pathogenic variant in EFNB1.
Dominique L. Assing, Danielle E. Jolly, Sarah Gluschitz, Beverly Nelson, Dong Li, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Andrew K. Sobering   +7 more
wiley   +1 more source

Saúde sexual e reprodutiva de mulheres vivendo com HIV/AIDS atendidas em Hospital Dia

, 2014
Os dados da Organização Mundial da Saúde, bem como os nacionais, mostram o avanço da epidemia de aids entre as mulheres, com maior concentração de casos na faixa reprodutiva. O objetivo deste estudo foi analisar aspectos da saúde sexual e reprodutiva de mulheres infectadas pelo HIV/Aids atendidas no Serviço de Ambulatórios Especializados e Hospital Dia
openaire   +1 more source

Identifying the Initiation of a New Line of Therapy for Metastatic Lung, Breast, and Colorectal Cancer in Real‐World Data: A Scoping Review

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Purpose This study aimed to identify and synthesize published algorithms for identifying the initiation of a new line of therapy (LOT) for metastatic lung, breast, and colorectal cancer in real‐world data (RWD). Methods We conducted a scoping review of published, English‐language studies describing algorithms for identifying any LOTs with ...
Oluwadamilola Onasanya, Seyed Hamidreza Mahmoudpour, Benjamin Bates, Irene M. Shui, Geoffrey Liu, Eng Hooi Tan, Yi‐Hsin Yang, Maribel Salas, Joseph Fadare, Dimitri Bennett, Paula Lana de M. Drummond, Judy Ju‐Young Shin, Sonia Guleria, Jocelyn R. Wang, Manila Hada, Helene Denis, Soko Setoguchi, Ilse Truter, Luciane C. Lopes, Ruth Wangia Dixon   +19 more
wiley   +1 more source

Estudo de Reuniões de Equipe Geral em um Hospital-Dia Psiquiátrico. [PDF]

, 2015
openaire   +1 more source

Proteomic Analysis of Cervicovaginal Fluid for Diagnostic Endometriosis Biomarker Discovery

PROTEOMICS – Clinical Applications, Volume 20, Issue 3, May 2026.
ABSTRACT Purpose Endometriosis is a prevalent inflammatory condition characterised by the presence of endometrial‐like tissue outside the uterus and is associated with significant challenges, including diagnostic delays and continued reliance on laparoscopy.
Emily S. J. Paterson, Simon Scheck, Torsten Kleffmann, Roopi Gill, Nicholas Bedford, Simon McDowell, Jane E. Girling, Claire E. Henry   +7 more
wiley   +1 more source

Serum Proteomic Analysis Using Gel‐Based Liquid Chromatography Tandem Mass Spectrometry Reveals Differences Between Canine Oral Malignancies and Non‐Malignant Conditions

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
This study establishes a GeLC‐MS/MS‐based serum proteomics workflow for canine oral oncology to differentiate malignancies from non‐malignant conditions. Comprehensive protein profiling, pathway analysis and protein–drug interaction mapping reveal candidate biomarkers and insights into the pathogenesis of canine oral cancers.
Sekkarin Ploypetch, Sittiruk Roytrakul, Janthima Jaresitthikunchai, Narumon Phaonakrop, Gunnaporn Suriyaphol   +4 more
wiley   +1 more source

Editorial

Onco.News
Sandra Ponte
doaj   +1 more source

SIRT1 Downregulation by Advanced Glycation End Products Activates RANKL‐Dependent Osteoclast Signaling and Drives Chondrocyte Senescence During Osteoarthritis Development

Aging Cell, Volume 25, Issue 5, May 2026.
Mechanistic study of AGEs‐induced OA progression via SIRT1/RANKL/RANK signaling‐mediated osteoclast–chondrocyte communication and cellular senescence. ABSTRACT Advanced glycation end products (AGEs) accumulate with aging and metabolic stress and are increasingly implicated in osteoarthritis (OA) pathology.
Yizhou Li, Jian Wu, Rui Liu, Qiang Li, Fei Xue   +4 more
wiley   +1 more source