Results 111 to 120 of about 14,696 (273)

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

A Comprehensive Single Institutional Review of 2 Years in a Designated Fast-Track Sarcoma Diagnostic Clinic Linked with a Sarcoma Specialist Advisory Group: Meeting the Target but Failing the Task? [PDF]

, 2016
Background. National guidelines prompted the implementation of a designated two-week wait referral pathway to facilitate the early diagnosis of sarcomas, to improve treatment outcomes. Methods. Patients referred to the Cambridge Sarcoma Diagnostic Clinic
Bearcroft, Philip WP, Davidson, Dochka, Earl, Helena, Grant, Ian, Grimer, Robert, Hatcher, Helen, Hopper, Melanie A, Horan, Gail, Szucs, Zoltan, Wong, Han Hsi   +9 more
core   +3 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Therapeutic Applications of Stimuli‐Based Release and Engineering of Extracellular Vesicles

Advanced NanoBiomed Research, EarlyView.
This review summarizes the effects of endogenous and exogenous stimuli, their effects on the natural release of extracellular vesicles, as well as their uptake and release. It also gives an overview of stimuli‐responsive EVs and their therapeutic applications. Extracellular vesicles (EVs), nano‐ to microsized lipid bilayer membrane‐bound particles, are
Gloria Kemunto, Kristen Dellinger
wiley   +1 more source

The petrotympanic canal (Huguier canal): Evolutionary, anatomical, and medical perspectives

The Anatomical Record, EarlyView.
Abstract The petrotympanic canal, traditionally referred to as Civinini's or Huguier's canal, represents an anatomical passage connecting the middle ear and temporomandibular joint (TMJ). Despite its early description, its structural complexity and functional significance have often been underestimated. In this study, we combined historical, anatomical,
Andrea Papini, Nicola Montemurro, Ferdinando Paternostro, Immacolata Belviso, Massimo Galli, Petra Martini, Licia Uccelli, Jacopo Moggi‐Cecchi, Gregorio Oxilia   +8 more
wiley   +1 more source

An antenatally diagnosed suprarenal cystic mass: A diagnostic challenge

Journal of Pediatric Surgery Case Reports, 2016
Lymphatic malformations are congenital vascular malformations of the lymphatic channels. These most commonly present in the skin and subcutaneous tissue. Cavity chylous accumulation is also reported.
Enas Sindi, Yasmin Yousef, Mehmet Guler
doaj   +1 more source

OGFRL1 Deficiency Causes Chronic Recurrent Multifocal Osteomyelitis Via Pathologic Osteoclastogenesis, With Therapeutic Response to Tumor Necrosis Factor Inhibitor

Arthritis &Rheumatology, EarlyView.
Objective To verify the pathogenesis of the opioid growth factor receptor like‐1 (OGFRL1) loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a patient with chronic recurrent multifocal osteomyelitis (CRMO) and to investigate the underlying mechanism.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang   +9 more
wiley   +1 more source

Marine silicon for biomedical sustainability

BMEMat, EarlyView.
Schematic illustrating marine silicon for biomedical engineering. Abstract Despite momentous divergence from oceanic origin, human beings and marine organisms exhibit elemental homology through silicon utilization. Notably, silicon serves as a critical constituent in multiple biomedical processes.
Yahui Han, Zhibo Yang, Wei Xia, Chengtie Wu   +3 more
wiley   +1 more source

Fish Scales: A Multifunctional Biomaterial from Nature

ENERGY &ENVIRONMENTAL MATERIALS, EarlyView.
Fish scales demonstrate nature's solution to impact protection through overlapping multilayered architecture. This biological design combines mineralized surfaces with collagen networks to achieve both flexibility and fracture resistance. The structural principles inspire advanced protective materials and biomedical implants, where damage tolerance ...
Liyao Dong, Xiaojie Sun, Xiguang Chen
wiley   +1 more source

Multi-disciplinary treatment of retroperitoneal lymphatic malformations

Journal of Pediatric Surgery Case Reports, 2020
Rachel Cryer, Dr., B.Comm (Curtin), MChD (ANU), Sahil Gera, Mr., Parshotam Gera, Mr., M.MedSc(UWA), M.H.M(UNSW), FRACS   +2 more
doaj   +1 more source