Results 51 to 60 of about 360,737 (315)

PANoptosis in the pathogenesis of myelodysplastic syndromes

Molecular Oncology, EarlyView.
PANoptosis, a combination of three types of programmed cell death, is mediated by a large protein complex called a PANoptosome. In healthy bone marrow hematopoietic cells, PANoptosis is restricted by inhibitory signaling. In MDS, bone marrow cells become sensitive to the PANoptotic stimuli due to the aberrant inactivation of inhibitory signaling or ...
Rohit Thalla, Jyoti Lamichhane, Cameron Lewis, Peter Breslin, Jiwang Zhang   +4 more
wiley   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis

Orphanet Journal of Rare Diseases
Background Achondroplasia (ACH) and hypochondroplasia (HCH) are among the most common forms of skeletal dysplasia, caused by gain-of-function variants in the FGFR3 gene, leading to disproportionate short stature.
Genevieve Baujat, Marc-Antoine Hamandjian, Anne-Sophie Jannot, Pierre Karam, Valérie Cormier-Daire   +4 more
doaj   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Clinical Outcomes of SEEG‐Guided Radiofrequency Thermocoagulation in Children With Focal Drug‐Resistant Epilepsy: A Multicenter Real‐World Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) has emerged as a safe and effective minimally invasive treatment for children with drug‐resistant focal epilepsy. Although evidence from real‐world studies remains limited, numerous pediatric cases have demonstrated promising outcomes. This retrospective
Weitao Chen, Stéphane Jean, Weihong Liu, Yihai Dai, Xinrong Fang, Xiaoqiang Wei, Shan Chen, Shiwei Song   +7 more
wiley   +1 more source

How Can We Diagnose Pre-malignant Solitary Cecal Ulcer?

Turkish Journal of Colorectal Disease, 2018
A 75-year-old woman presented with a 1-month history of right lower quadrant pain and constipation. Physical examination revealed tenderness to palpation. The patient had no history of inflammatory bowel disease.
Bahar Büşra Özkan, Kadri Güleşçi, Nazan Aksoy, Yüksel Altınel   +3 more
doaj   +1 more source

A Semi-automatic Diagnosis of Hip Dysplasia on X-Ray Films

Frontiers in Molecular Biosciences, 2020
Background: Diagnosis of hip joint plays an important role in early screening of hip diseases such as coxarthritis, heterotopic ossification, osteonecrosis of the femoral head, etc.
Guangyao Yang, Yaoxian Jiang, Tong Liu, Xudong Zhao, Xiaodan Chang, Zhaowen Qiu, Zhaowen Qiu   +6 more
doaj   +1 more source

Multifocal periapical cemental dysplasia in periodontal Ehlers–Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS]

Clinical Case Reports, 2022
Periodontal Ehlers‐Danlos syndrome (pEDS) is a rare disorder caused by heterozygous mutations in complement 1 subunit genes C1R and C1S. To date, 148 cases have been described in the literature.We describe a case of a suspected de novo‐mutation of pEDS ...
Manfred Nilius, Minou Helene Nilius, Charlotte Müller, Guenter Lauer, Koch Berit, Kohlhaas Marcus   +5 more
doaj   +1 more source

Interdisciplinary Care of Children with Severe Bronchopulmonary Dysplasia

Jornal de Pediatria, 2016
Recommended Citation Abman, S. H., Collaco, J. M., Shepherd, E. G., Keszler, M., Cuevas-Guaman, M., Welty, S. E., Truog, W. E., McGrath-Morrow, S. A., Moore, P. E., Rhein, L. M., Kirpalani, H., Zhang, H., Gratny, L. L., Lynch, S.
S. Abman, J. Collaco, E. Shepherd, M. Keszler, Milenka Cuevas-Guaman, S. Welty, W. Truog, S. McGrath-Morrow, P. Moore, L. Rhein, H. Kirpalani, Huayan Zhang, L. Gratny, S. Lynch, J. Curtiss, B. Stonestreet, R. McKinney, Kevin Dysart, Jason Gien, C. Baker, P. Donohue, E. Austin, Candice Fike, L. Nelin   +23 more
semanticscholar   +1 more source

Oculodentodigital dysplasia

Indian Journal of Ophthalmology, 2016
Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo),
Dharmil C Doshi, Purvi K Limdi, Nilesh V Parekh, Neepa R Gohil   +3 more
openaire   +3 more sources