Results 61 to 70 of about 3,123,336 (329)

Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack, A. Carolina Tufino, Mohd Azrin Jamalruddin, Sreya Dey, Yinghong Pan, Elina Mukherjee, Jessica D. Daley, Julia Meade, Mahmoud Aarabi, Lisa Maurer, James Cooper, Kara A. Bernstein, Kelly M. Bailey   +12 more
wiley   +1 more source

A Cre‐dependent lentiviral vector for neuron subtype‐specific expression of large proteins

FEBS Letters, EarlyView.
We designed a versatile and modular lentivector comprising a Cre‐dependent switch and self‐cleaving 2A peptide and tested it for co‐expression of GFP and a 2.8 kb gene of interest (GOI) in mouse cortical parvalbumin (PV+) interneurons and midbrain dopamine (TH+) neurons.
Weixuan Xue, Sandrine Picaud, Régine Hepp, Stéphanie Pons, Uwe Maskos, Bertrand Lambolez, Ludovic Tricoire   +6 more
wiley   +1 more source

Presentación de caso para educación médica : abdomen agudo en paciente con diagnóstico de perforación intestinal por cuerpo extraño con resolución laparoscópica [PDF]

, 2017
Acute abdominal pain together with chest pain are the most common causes for people over 15 years of age to seek emergency medical attention. (Meyer, z et al., 2012). Between 1999 and 2008, visits to emergency services for acute abdomen increased by 31.8%
Wirth Rosales, Martín
core  

Gigantic Stomach: A Rare Manifestation of Duchenne Muscular Dystrophy [PDF]

, 2019
Duchenne muscular dystrophy (DMD) is characterized by degeneration and atrophy of skeletal, cardiac, and smooth muscles after a latent period of apparently normal development and function. The gastrointestinal manifestations start in the second decade of
Dhaliwal, Amaninder, Dhindsa, Banreet S., Hassen, Getaw W., Madiraju, Sarvani, Rochling, Fedja A.   +4 more
core   +2 more sources

ATF4‐mediated stress response as a therapeutic vulnerability in chordoma

Molecular Oncology, EarlyView.
We screened 5 chordoma cell lines against 100+ inhibitors of epigenetic and metabolic pathways and kinases and identified halofuginone, a tRNA synthetase inhibitor. Mechanistically halofuginone induces an integrated stress response, with eIF2alpha phosphorylation, activation of ATF4 and its target genes CHOP, ASNS, INHBE leading to cell death ...
Lucia Cottone, James Dunford, Eleanor Calcutt, Vicki Gamble, Filiz Senbabaoglu Aksu, Lorena Ligammari, Georgina Wherry, Giorgia Gaeta, John C. Christianson, Adrienne M. Flanagan, Udo Oppermann, Adam P. Cribbs   +11 more
wiley   +1 more source

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon, Rui P. L. Neves, Nikolas H. Stoecklein, Sven‐Thorsten Liffers, Jens Siveke, Jan D. Kuhlmann, Pauline Wimberger, Paul Buderath, Rainer Kimmig, Sabine Kasimir‐Bauer   +9 more
wiley   +1 more source

Early and late complications of bariatric operation. [PDF]

, 2018
Weight loss surgery is one of the fastest growing segments of the surgical discipline. As with all medical procedures, postoperative complications will occur. Acute care surgeons need to be familiar with the common problems and their management. Although
Beekley, Alec, Davis, Kimberly A., Johnson, Dirk C., Lim, Robert   +3 more
core   +1 more source

Omental Torsion After Repeated Abdominal Blunt Trauma [PDF]

, 2012
Omental torsion is caused by the rotation of the greater omentum on its axis which may lead to tissue infarction and necrosis. It is a rare cause of acute abdomen. Signs, symptoms and paraclinical data are not specific.
Abdollahi, A., Hosseinpour, M., Jazayeri, H., Sadeghpour, A., Talari, H.   +4 more
core   +1 more source

Association of α-SMA/FAP-positive cancer-associated fibroblasts with clinicopathological features and prognosis in extrahepatic cholangiocarcinoma

Diagnostic Pathology
Objective This study aimed to evaluate the value of cancer-associated fibroblasts (CAFs) that positively express α-smooth muscle actin (α-SMA) and fibroblast activation protein (FAP) as survival indicators for patients with extrahepatic ...
Xiaojun Sui, Zhangqiang Zheng, Lei Yang, Dapeng Zhang, Xiangyu Sun, Ximo Wang   +5 more
doaj   +1 more source

Rapunzel syndrome, a rare hairy tale: a case report [PDF]

Pediatric Emergency Medicine Journal
Rapunzel syndrome is a rare condition that typically occurs in young females with trichotillomania or trichophagia. The name “Rapunzel” was given due to the presence of trichobezoars extending from the stomach down to various parts of the ...
Nevine Macalintal, Shoshana Taube, Vinci Jones, Cornelia Muntean   +3 more
doaj   +1 more source