Results 31 to 40 of about 107,215 (206)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Assessment of the psychometric properties of the Italian version of the revised impact of miscarriage scale (RIMS): a validity and reliability study

BMC Pregnancy and Childbirth
Background Miscarriage is a traumatic life event that involves over forty thousand Italian women every year. Women affected by this loss can have long-term psychological consequences.
Antonella Nespoli, Simona Fumagalli, Laura Mosconi, Roberto Bonaiuti, Alfredo Vannacci, Claudia Ravaldi   +5 more
doaj   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 more
wiley   +1 more source

Transforming care by integrating maternity and psychological support: a mixed-methods evaluation of a Maternal Mental Health Service

BMC Pregnancy and Childbirth
Background Maternal mental health difficulties, associated with perinatal loss, a traumatic birth or fear of childbirth, are common and yet often left untreated.
Jasmine Reed, Hadiss Khossravi, Sanne van Rhijn   +2 more
doaj   +1 more source

Perinatal palliative care following prenatal diagnosis of severe fetal anomaly: a new family-centered approach in a level III Portuguese hospital

Journal of Pediatric and Neonatal Individualized Medicine, 2018
Perinatal palliative care (PNPC) is an emerging field that aims to improve the quality of life of families affected by an antenatal diagnosis incompatible with long-term survival through a specialized, multidisciplinary approach and holistic and ...
Diana Paula Gomes Guimarães, Maria Hercília Ferreira Guimarães Pereira Areias, Carla Maria de Almeida Ramalho, Maria Manuela Rodrigues   +3 more
doaj   +1 more source

Genetic Ablation and Multi‐Omics Profiling Reveal CEP55 as a Key Driver of Tumorigenesis in Diverse Cancer Models

Advanced Science, EarlyView.
Genetic ablation of Cep55 in Pten‐deficient mouse models delays tumorigenesis. Integrated multi‐omics analyses (proteomics, phosphoproteomics, and spatial transcriptomics) reveal that CEP55 regulates oncogenic signaling (RAS/ERK, PI3K/AKT), integrin/FAK‐mediated adhesion, extracellular matrix (ECM) remodeling, and endocytosis.
Behnam Rashidieh, Yuanhao Yang, Amanda Louise Bain, Phillip Theron, Catharina Vosloo, Sahar Keshvari, Parinaz Ahangar, Brydie Bowden, Simon M. Tria, Ben B. Wang, Sandra Isenmann, Nicholas J. Westra van Holthe, Zherui Xiong, Hani Vu, Sowmya Sharma, Asmerom Sengal, J. Alejandro Lopez, John Finnie, Antonella Papa, Pascal H.G. Duijf, Quan Nguyen, Pirjo M. Apaja, Kum Kum Khanna   +22 more
wiley   +1 more source

Maternal Exercise Rescues Embryonic Osteogenesis Impaired due to POLG Mutation Through a Potential Apelin‐ATF4 Axis

Advanced Science, EarlyView.
Maternal exercise (ME) increases apelin abundance across maternal and fetal tissues and is associated with improved fetal osteogenesis under POLG mutation‐induced mitochondrial dysfunction. Apelin‐APJ signaling is linked to enhanced mitochondrial function, Akt phosphorylation, and ATF4‐RUNX2 association, supporting coordinated fetal bone remodeling ...
Song Ah Chae, Ryan C. Riddle, Zhihua Jiang, Chaeyoung Shin, Min Du, Jun Seok Son   +5 more
wiley   +1 more source

m6A‐Driven Pexophagy Triggers Placental Ferroptosis to Impair Fetal Growth Upon Environmental Stress

Advanced Science, EarlyView.
Prenatal environmental stress exposure promotes m6A modification to drive PEX2‐dependent pexophagy, thereby causing placental ferroptosis and FGR. ABSTRACT The role and underlying mechanisms of placental ferroptosis in fetal growth restriction (FGR) induced by environmental stress remain poorly understood.
Xin‐Xin Zhang, Ye‐Xin Luo, Cheng‐Fang Sun, Rui Pan, Yu‐Xi Wu, Zhi Yuan, Xin‐Run Wang, Xu‐Dong Zhang, Lan‐Lan Wu, Xiang‐Yu Yao, Zhan‐Dong Song, Wei Chang, Tian Wei, Pan‐Yuan Cai, Tian‐Ci Zhang, Yong‐Wei Xiong, De‐Xiang Xu, Hua Wang, Hua‐Long Zhu   +18 more
wiley   +1 more source

Photobiomodulation‑Engineered Extracellular Vesicles Enhance Neural Differentiation via UFL1‑Mediated UFMylation in Spinal Cord Injury

Advanced Science, EarlyView.
Photobiomodulated microglia release engineered extracellular vesicles that deliver UFL1 to the injured spinal cord. UFL1 competitively binds p53 with MDM2, inhibiting p53 ubiquitination and stabilizing p53 signaling. This dual mechanism simultaneously promotes anti‐inflammatory microglial polarization and directs neural stem cell differentiation toward
Yunxiao Fang, Zuomeng Wu, Ruocheng Guo, Cancan Wang, Yue Qin, Yixiang Dong, Aoyun Li, Ao Liu, Chongyu Jia, Tianyu Han, Peiwen Song, Lei Chen, Cailiang Shen   +12 more
wiley   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source