Results 141 to 150 of about 28,298 (249)

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Nitric Oxide in Cancer: Mechanisms, Dual Role, and Therapeutic Strategies

MedComm – Oncology, Volume 5, Issue 3, September 2026.
Nitric oxide exerts concentration‐dependent dual roles in cancer, functioning as either a tumor promoter or suppressor. This review comprehensively examines NO's multifaceted regulation of tumor biology, including S‐nitrosylation signaling, metabolic reprogramming, immunemodulation, and therapy resistance, and highlights emerging therapeutic strategies
Jia Shao, Honghua Zhang, Jingyu Chen, Ziyu Qian, Ning Zhang, Yihua Zhang, Hui Ye, Jianbing Wu, Zhangjian Huang   +8 more
wiley   +1 more source

Onychomatricoma with Tuberous Sclerosis: A Novel Association? [PDF]

Indian Dermatol Online J
Grover C, Gaurav V, Sharma S.
europepmc   +1 more source

The Canine Sacroiliac Joint: 2. Common Surface Variants

Anatomia, Histologia, Embryologia, Volume 55, Issue 5, September 2026.
ABSTRACT The canine sacroiliac joint (CSIJ) is crucial for transferring load between the axial skeleton and the pelvic limbs. However, the morphology of this joint beyond the primary articulation is not well characterized. This second study on the CSIJ aimed to systematically describe common morphological variants, including synovial surface area (SSA)
Janek Gensicke, Mirjam Kalusa, Thomas Grochow, Rebecca L. Tartsch, Alexandra S. Klick, Christoph K. W. Mülling, Simone A. Fietz, Nicole Röhrmann   +7 more
wiley   +1 more source

Genotype-Phenotype Correlation in Tuberous Sclerosis Complex: Insights from North Macedonia [PDF]

Balkan Med J
Gjorgjievska M, Bozhinovski G, Muaremoska Kanzoski L, Babunovska M, Cvetkovska E, Rambabova-Bushljetik I, Plaseska-Karanfilska D.   +6 more
europepmc   +1 more source

Tuberous sclerosis complex with ovarian endometrioma misdiagnosed as multiple metastases: a case report. [PDF]

Front Med (Lausanne)
Tang H, Peng S, Meng P, Wang S, Wang X, Yang F.   +5 more
europepmc   +1 more source

Artificial intelligence‐based statistical modeling delineates architectural distortion in focal cortical dysplasia

Brain Pathology, Volume 36, Issue 5, September 2026.
Histopathological identification of subtle cortical architectural abnormalities in focal cortical dysplasia (FCD) resections remains challenging. We investigated if artificial intelligence (AI)‐based morphometric and spatial analysis of NeuN‐stained cortical sections could detect neuronal architectural disorganization in epilepsy resections, including ...
Andrew Cannon, Roland Tian, Blake Ebner, Robert E. Watson Jr., Brian Burkett, Jamie Van Gompel, Lily C. Wong‐Kisiel, Christopher P. Hartley, Roger K. Moreira, Aditya Raghunathan   +9 more
wiley   +1 more source

Original investigation: evolution of long-term cardiac tumours in patients with tuberous sclerosis. [PDF]

Orphanet J Rare Dis
Santorio NC, de Lima Ribeiro AC, Conci NB, da Silva Lobo Oishi G, Santorio PT, Matos MRQ, Ikari NM, Fernandes F, Hotta VT.   +8 more
europepmc   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

In vitro study of TSC1 deficiency in preadipocytes: insights into development and treatment options for tuberous sclerosis related lipomatosis. [PDF]

Orphanet J Rare Dis
Friedrich JE, Hentschel J, Richter S, Kiep H, Arélin M, Platzer K, Schulz T, Merkenschlager A, Kiess W, Mayer S, Jamra RA, Duc DL, Garten A, Kirstein AS.   +13 more
europepmc   +1 more source